Yair Blumenfeld

All Publications

• Updates in fetal spina bifida repair CURRENT OPINION IN OBSTETRICS & GYNECOLOGY Blumenfeld, Y. J., Belfort, M. A. 2018; 30 (2): 123–29

  Abstract

  To examine updates in fetal spina bifida surgical repair, as well as promising results emerging from translational medicine.Although the Management of Myelomeningocele Study sponsored by the National Institutes of Health helped establish the neonatal benefits of prenatal spina bifida repair via uterine hysterotomy, also known as 'open' fetal surgery, fetoscopic approaches may yield better maternal and obstetric outcomes.Spina bifida is a severe congenital malformation associated with significant neonatal and childhood morbidity and mortality. Although 'open' fetal spina bifida repair has become the standard prenatal surgical approach due to proven neonatal benefit, this approach is associated with significant maternal and obstetric risks. Recent developments from multidisciplinary clinical and translational research have highlighted the potential for novel fetoscopic surgical approaches to decrease maternal morbidity and reduce obstetric risks. Moreover, novel stem cell therapies coupled with in-utero medical approaches targeting the pathophysiological pathways associated with spina bifida are likely to make additional significant impact.

  View details for DOI 10.1097/GCO.0000000000000443

  View details for Web of Science ID 000427985300007

  View details for PubMedID 29489502

• Predictors of poor neonatal outcomes in prenatally diagnosed multicystic dysplastic kidney disease. Journal of perinatology : official journal of the California Perinatal Association Balasundaram, M., Chock, V. Y., Wu, H. Y., Blumenfeld, Y. J., Hintz, S. R. 2018

  Abstract

  OBJECTIVE: Multicystic dysplastic kidney (MCDK) is one of the most common anomalies detected by prenatal ultrasound. Our objective was to identify factors associated with severe adverse neonatal outcomes of prenatally diagnosed MCDK STUDY DESIGN: A retrospective review of prenatally diagnosed MCDK (1 January 2009 to 30 December 2014) from a single academic center was conducted. The primary outcome was death or need for dialysis among live-born infants. Associations between prenatal characteristics and outcome were analyzed by Fisher's exact test and Mann-Whitney test.RESULTS: A total of 53 cases of prenatally suspected MCDK were included, of which 46 cases were live-born and confirmed postnatally (38 survivors, 8 non-survivors). Prenatally diagnosed extrarenal anomalies, bilateral MCDK, contralateral renal anomalies, and anhydramnios were significantly associated with death or need for dialysis (all p<0.0001).CONCLUSIONS: Prenatally identified findings are associated with adverse neonatal outcome, and can guide counseling and management planning. In the absence of significant associated findings, prenatally diagnosed unilateral MCDK has a benign neonatal course.

  View details for DOI 10.1038/s41372-018-0093-z

  View details for PubMedID 29572458

• Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR CLINICAL CHEMISTRY Camunas-Soler, J., Lee, H., Hudgins, L., Hintz, S. R., Blumenfeld, Y. J., El-Sayed, Y. Y., Quake, S. R. 2018; 64 (2): 336–45

  View details for DOI 10.1373/clinchem.2017.278101

  View details for Web of Science ID 000424396200017

• A Double-Blind, Randomized, Placebo-Controlled Trial of 17 Alpha-hydroxyprogesterone Caproate in the Management of Preterm Premature Rupture of Membranes. American journal of perinatology Langen, E. S., Sit, A., Sherwin, K., Lyell, D. J., Blumenfeld, Y. J., El-Sayed, Y. Y. 2018

  Abstract

  OBJECTIVE: The objective of this study was to evaluate whether weekly administration of 17 alpha-hydroxyprogesterone caproate (17-OHPC) increases the number of women who achieve 34 weeks of gestation after preterm premature rupture of membranes (PPROM).STUDY DESIGN: We conducted a multicenter double-blind, randomized controlled trial of 17-OHPC versus placebo among women with PPROM. Women with singleton pregnancy, clinically confirmed PPROM, and without evidence of active infection or major fetal malformation between 240/7 and 320/7 weeks of pregnancy were offered enrollment. Women received weekly injections of 17-OHPC versus placebo until 340/7 weeks of gestation or delivery. The remainder of care was per hospital protocol. The primary outcome was achievement of 34 weeks of gestation. Secondary outcomes included length of latency and maternal and fetal outcomes.RESULTS: In this study, 21 women were enrolled. Eleven women received placebo and 10 received 17-OHPC. The study was closed prematurely secondary to poor enrollment. None of the women remained pregnant until 34 weeks of gestation. The median latency periods were 8 and 14.5 days for the placebo and 17-OHPC groups, respectively (p=0.14). There were no differences in maternal or neonatal outcomes.CONCLUSION: We did not identify any benefit from administration of 17-OHPC in pregnancies complicated by PPROM.

  View details for DOI 10.1055/s-0037-1617428

  View details for PubMedID 29298456

• Simultaneously Monitoring Immune Response and Microbial Infections during Pregnancy through Plasma cfRNA Sequencing CLINICAL CHEMISTRY Pan, W., Ngo, T. M., Camunas-Soler, J., Song, C., Kowarsky, M., Blumenfeld, Y. J., Wong, R. J., Shaw, G. M., Stevenson, D. K., Quake, S. R. 2017; 63 (11): 1695–1704

  Abstract

  Plasma cell-free RNA (cfRNA) encompasses a broad spectrum of RNA species that can be derived from both human cells and microbes. Because cfRNA is fragmented and of low concentration, it has been challenging to profile its transcriptome using standard RNA-seq methods.We assessed several recently developed RNA-seq methods on cfRNA samples. We then analyzed the dynamic changes of both the human transcriptome and the microbiome of plasma during pregnancy from 60 women.cfRNA reflects a well-orchestrated immune modulation during pregnancy: an up-regulation of antiinflammatory genes and an increased abundance of antimicrobial genes. We observed that the plasma microbiome remained relatively stable during pregnancy. The bacteria Ureaplasma shows an increased prevalence and increased abundance at postpartum, which is likely to be associated with postpartum infection. We demonstrated that cfRNA-seq can be used to monitor viral infections. We detected a number of human pathogens in our patients, including an undiagnosed patient with a high load of human parvovirus B19 virus (B19V), which is known to be a potential cause of complications in pregnancy.Plasma cfRNA-seq demonstrates the potential to simultaneously monitor immune response and microbial infections during pregnancy.

  View details for DOI 10.1373/clinchem.2017.273888

  View details for Web of Science ID 000414042600008

  View details for PubMedID 28904056

• Association between small-for-gestational age and neurocognitive impairment at two years of corrected age among infants born at preterm gestational ages: a cohort study. Journal of perinatology Girsen, A. I., Do, S. C., El-Sayed, Y. Y., Hintz, S. R., Blumenfeld, Y. J. 2017

  Abstract

  To investigate the association between small-for-gestational age (SGA) and neurocognitive impairment at 2 years of corrected age among infants born at preterm gestational ages.A secondary analysis of a prospectively conducted NICHD/Maternal-Fetal Medicine Units BEAM trial. Non-anomalous pregnancies delivered before 37 weeks of gestation were included in the analysis. Neurocognitive outcomes at 2 years of corrected age were compared between infants who were SGA (<10% for gestational age) and those appropriately grown (AGA). The primary outcome was a severe or moderate neurocognitive impairment at 2 years of corrected age among survivors, defined as either mental (MDI) or psychomotor (PDI) developmental index score <70 for severe and <85 for moderate impairment.Of 2299 preterm neonates 67 (3%) were SGA. SGA infants were more often twin pregnancies (31% vs 17%, P=0.003) and delivered more often by cesarean section (63% vs 40%, P<0.001) at similar gestational ages (30.0±2.6 vs 29.5±2.8 weeks, P=0.11). At 2 years of corrected age, SGA and AGA survivors had similar rates of neurocognitive impairment (MDI <70: 18% vs 18%, P=1.0; MDI <85: 44% vs 46%, P=0.96; PDI <70: 20% vs 15%, P=0.51; PDI <85: 40% vs 34%, P=0.48).In this cohort, SGA at preterm gestational ages was associated with similar rates of neurocognitive impairment at two years of corrected age among surviving infants.Journal of Perinatology advance online publication, 27 April 2017; doi:10.1038/jp.2017.58.

  View details for DOI 10.1038/jp.2017.58

  View details for PubMedID 28448062

• . journal of maternal-fetal & neonatal medicine Shachar, B. Z., Mayo, J. A., Lyell, D. J., Stevenson, D. K., Shaw, G. M., Blumenfeld, Y. J. 2017: 1-7

  Abstract

  Approximately 10% of US couples are inter-racial/ethnic. Substantial variation in preterm birth (PTB) rates is seen when stratified by race/ethnicity, although most studies focused solely on maternal racial/ethnic demographics. Our aims were to analyze the contribution of paternal in addition to maternal race/ethnicity, and to evaluate risk of spontaneous PTB for previously understudied inter-racial/ethnic couples.California singleton live births from 2007 to 2010 were included. Race/ethnicity was determined based on self-report, obtained from birth certificates and defined as African American (AA), Hispanic, Asian, and White. Logistic regression was used to estimate odds ratios of spontaneous PTB at 20-23, 24-31, 32-36 and <37 weeks of gestation, with White-White couples as reference. Results were stratified by previous PTB, pre-gestational and gestational diabetes and hypertension. To investigate the paternal contribution to the risk for any given maternal race/ethnicity we assessed the rates of PTB among inter-racial/ethnic couples compared to the respective same-race couple. Odds ratios were adjusted for maternal age, parity, BMI, prenatal care, payor status, education and smoking.Among 1,664,939 live births, 13% (n = 216,417) were born to inter-racial/ethnic couples. Compared to White-White couples, risk for spontaneous PTB was increased across all inter-racial/ethnic couples with a non-White mother, except when the father was Asian. Patterns of association were similar after stratification by previous PTB, hypertension and diabetes. Paternal race/ethnicity was also a significant risk factor for PTB.Increased risks for spontaneous PTB were seen in most inter-racial/ethnic couple groupings. In addition to maternal race/ethnicity, paternal race/ethnicity was a significant risk factor in many inter-racial/ethnic couplings. Identifying such different risk profiles based on both maternal and paternal race/ethnicity may offer new lines of research inquiry for the underlying etiologies of PTB.

  View details for DOI 10.1080/14767058.2017.1293029

  View details for PubMedID 28399669

• Postpartum hemorrhage following vaginal delivery: risk factors and maternal outcomes. Journal of perinatology Miller, C. M., Cohn, S., Akdagli, S., Carvalho, B., Blumenfeld, Y. J., Butwick, A. J. 2017; 37 (3): 243-248

  Abstract

  Limited understanding of risk factors exists for postpartum hemorrhage (PPH) post-vaginal delivery. The aim of this study was to identify risk factors for PPH post-vaginal delivery within a contemporary obstetric cohort.Retrospective case-control study. PPH was classified by an estimated blood loss ⩾500 ml. Risk factors for PPH were identified using univariable and multivariable logistic regression. We secondarily investigated maternal outcomes and medical and surgical interventions for PPH management.The study cohort comprised 159 cases and 318 controls. Compared with a second-stage duration <2 h, a second stage⩾3 h was associated with PPH (adjusted odds ratio=2.3; 95% CI=1.2 to 4.6). No other clinical or obstetric variables were identified as independent risk factors for PPH. Among cases, 4% received red blood cells and 1% required intensive care admission.Although PPH-related morbidity may be uncommon after vaginal delivery, PPH should be anticipated for women after a second stage ⩾3 h.

  View details for DOI 10.1038/jp.2016.225

  View details for PubMedID 27977018

• Utility of third trimester sonographic measurements for predicting SGA in cases of fetal gastroschisis. Journal of perinatology Blumenfeld, Y. J., Do, S., Girsen, A. I., DAVIS, A. S., Hintz, S. R., Desai, A. K., Mansour, T., Merritt, T. A., Oshiro, B. T., El-Sayed, Y. Y., Shamshirsaz, A. A., Lee, H. C. 2017

  Abstract

  To assess the accuracy of different sonographic estimated fetal weight (EFW) cutoffs, and combinations of EFW and biometric measurements for predicting small for gestational age (SGA) in fetal gastroschisis.Gastroschisis cases from two centers were included. The sensitivity, specificity, positive and negative predictive values (PPV and NPV) were calculated for different EFW cutoffs, as well as EFW and biometric measurement combinations.Seventy gastroschisis cases were analyzed. An EFW<10% had 94% sensitivity, 43% specificity, 33% PPV and 96% NPV for SGA at delivery. Using an EFW cutoff of <5% improved the specificity to 63% and PPV to 41%, but decreased the sensitivity to 88%. Combining an abdominal circumference (AC) or femur length (FL) z-score less than -2 with the total EFW improved the specificity and PPV but decreased the sensitivity.A combination of a small AC or FL along with EFW increases the specificity and PPV, but decreases the sensitivity of predicting SGA.Journal of Perinatology advance online publication, 26 January 2017; doi:10.1038/jp.2016.275.

  View details for DOI 10.1038/jp.2016.275

  View details for PubMedID 28125100

• Prediction of neonatal respiratory distress in pregnancies complicated by fetal lung masses. Prenatal diagnosis Girsen, A. I., Hintz, S. R., Sammour, R., Naqvi, A., El-Sayed, Y. Y., Sherwin, K., Davis, A. S., Chock, V. Y., Barth, R. A., Rubesova, E., Sylvester, K. G., Chitkara, R., Blumenfeld, Y. J. 2017

  Abstract

  The objective of this article is to evaluate the utility of fetal lung mass imaging for predicting neonatal respiratory distress.Pregnancies with fetal lung masses between 2009 and 2014 at a single center were analyzed. Neonatal respiratory distress was defined as intubation and mechanical ventilation at birth, surgery before discharge, or extracorporeal membrane oxygenation (ECMO). The predictive utility of the initial as well as maximal lung mass volume and congenital pulmonary airway malformation volume ratio by ultrasound (US) and magnetic resonance imaging (MRI) was analyzed.Forty-seven fetal lung mass cases were included; of those, eight (17%) had respiratory distress. The initial US was performed at similar gestational ages in pregnancies with and without respiratory distress (26.4 ± 5.6 vs 22.3 ± 3 weeks, p = 0.09); however, those with respiratory distress had higher congenital volume ratio at that time (1.0 vs 0.3, p = 0.01). The strongest predictors of respiratory distress were maximal volume >24.0 cm(3) by MRI (100% sensitivity, 91% specificity, 60% positive predictive value, and 100% negative predictive value) and maximal volume >34.0 cm(3) by US (100% sensitivity, 85% specificity, 54% positive predictive value, and 100% negative predictive value).Ultrasound and MRI parameters can predict neonatal respiratory distress, even when obtained before 24 weeks. Third trimester parameters demonstrated the best positive predictive value. © 2017 John Wiley & Sons, Ltd.

  View details for DOI 10.1002/pd.5002

  View details for PubMedID 28061000

• Opportunities for maternal transport for delivery of very low birth weight infants JOURNAL OF PERINATOLOGY Robles, D., Blumenfeld, Y. J., Lee, H. C., Gould, J. B., Main, E., Profit, J., Melsop, K., Druzin, M. 2017; 37 (1): 32-35

  Abstract

  To assess frequency of very low birth weight (VLBW) births at non-level III hospitals.Retrospective cohort study using linked California birth certificate and discharge data of 2008 to 2010 for deliveries of singleton or first-born infant of multiple gestations with birth weight 400 to 1500 g. Delivery rates by neonatal level of care were obtained. Risk of delivery at non-level III centers was estimated in univariable and multivariable models.Of the 1 508 143 births, 13 919 (9.2%) were VLBW; birth rate at non-level III centers was 14.9% (8.4% in level I and 6.5% in level II). Median rate of VLBW births was 0.3% (range 0 to 4.7%) annually at level I and 0.5% (range 0 to 1.6%) at level II hospitals. Antepartum stay for >24 h occurred in 14.0% and 26.9% of VLBW births in level I and level II hospitals, respectively.Further improvement is possible in reducing VLBW infant delivery at suboptimal sites, given the window of opportunity for many patients.Journal of Perinatology advance online publication, 29 September 2016; doi:10.1038/jp.2016.174.

  View details for DOI 10.1038/jp.2016.174

  View details for Web of Science ID 000391517000007

• A Proteomic Clock of Human Pregnancy. American journal of obstetrics and gynecology Aghaeepour, N., Lehallier, B., Baca, Q., Ganio, E. A., Wong, R. J., Ghaemi, M. S., Culos, A., El-Sayed, Y. Y., Blumenfeld, Y. J., Druzin, M. L., Winn, V. D., Gibbs, R. S., Tibshirani, R., Shaw, G. M., Stevenson, D. K., Gaudilliere, B., Angst, M. S. 2017

  Abstract

  Early detection of maladaptive processes underlying pregnancy-related pathologies is desirable, as it will enable targeted interventions ahead of clinical manifestations. The quantitative analysis of plasma proteins features prominently among molecular approaches used to detect deviations from normal pregnancy. However, derivation of proteomic signatures sufficiently predictive of pregnancy-related outcomes has been challenging. An important obstacle hindering such efforts were limitations in assay technology, which prevented the broad examination of the plasma proteome.The recent availability of a highly-multiplexed platform affording the simultaneous measurement of 1,310 plasma proteins opens the door for a more explorative approach. The major aim of this study was to examine whether analysis of plasma collected during gestation of term pregnancy would allow identifying a set of proteins that tightly track gestational age. Establishing precisely-timed plasma proteomic changes during term pregnancy is a critical step in identifying deviations from regular patterns due to fetal and maternal maladaptations. A second aim was to gain insight into functional attributes of identified proteins, and link such attributes to relevant immunological changes.Pregnant women participated in this longitudinal study. In two subsequent subsets of 21 (training cohort) and 10 (validation cohort) women, specific blood specimens were collected during the first (7-14 wks), second (15-20 wks), and third (24-32 wks) trimesters, and 6 wks post-partum for analysis with a highly-multiplexed aptamer-based platform. An elastic net algorithm was applied to infer a proteomic model predicting gestational age. A bootstrapping procedure and piece-wise regression analysis was used to extract the minimum number of proteins required for predicting gestational age without compromising predictive power. Gene ontology analysis was applied to infer enrichment of molecular functions among proteins included in the proteomic model. Changes in abundance of proteins with such functions were linked to immune features predictive of gestational age at the time of sampling in pregnancies delivering at term.An independently validated model consisting of 74 proteins strongly predicted gestational age (p = 3.8x10-14, R = 0.97). The model could be reduced to eight proteins without losing its predictive power (p = 1.7x10-3, R = 0.91). The three top ranked proteins were glypican 3, chorionic somatomammotropin hormone, and granulins. Proteins activating the Janus kinase (JAK) and signal transducer and activator of transcription (STAT) pathway were enriched in the proteomic model, chorionic somatomammotropin hormone being the top ranked protein. Abundance of chorionic somatomammotropin hormone strongly correlated with STAT5 signaling activity in CD4 T cells, the endogenous cell-signaling event most predictive of gestational age.Results indicate that precisely timed changes in the plasma proteome during term pregnancy mirror a "proteomic clock". Importantly, the combined use of several plasma proteins was required for accurate prediction. The exciting promise of such a "clock" is that deviations from its regular chronological profile may assist in the early diagnoses of pregnancy-relate pathologies and point to underlying pathophysiology. Functional analysis of the proteomic model generated the novel hypothesis that somatomammotropin hormone may critically regulate T-cell function during pregnancy.

  View details for DOI 10.1016/j.ajog.2017.12.208

  View details for PubMedID 29277631

• Trends in the delivery route of twin pregnancies in the United States, 2006-2013. European journal of obstetrics, gynecology, and reproductive biology Bateni, Z. H., Clark, S. L., Sangi-Haghpeykar, H., Aagaard, K. M., Blumenfeld, Y. J., Ramin, S. M., Lee, H. C., Fox, K. A., Moaddab, A., Shamshirsaz, A. A., Salmanian, B., Hosseinzadeh, P., Racusin, D. A., Erfani, H., Espinoza, J., Dildy, G. A., Belfort, M. A., Shamshirsaz, A. A. 2016; 205: 120-126

  Abstract

  To determine the trends of cesarean delivery rate among twin pregnancies from 2006 to 2013.This is a population-based, cross-sectional analysis of twin live births from United State birth data files of the National Center for Health Statistics for calendar years 2006 through 2013. We stratified the population based on the gestational age groups, maternal race/ethnicity, advanced maternal age (AMA) which was defined by age more than 35 years and within the standard birth weight groups (group 1: birth weight 500-1499g, group 2: birth weight 1500-2499g and group 3: birth weight >2500g). We also analyzed the effect of different risk factors for cesarean delivery in twins.There were 1,079,102 infants born of twin gestations in the U.S. from 2006 to 2013, representing a small but significant increase in the proportion of twin births among all births (3.2% in 2006 versus 3.4% in 2013). The rate of cesarean delivery in twin live births peaked at 75.3% in 2009, and was significantly lower (74.8%) in 2013. The rate of the twin live birth with the breech presentation increased steadily from 26.3% in 2006 to 29.1% in 2013. For the fetus of the twin pregnancy presented as breech, the cesarean delivery rate peaked at 92.2% in 2010, falling slightly but significantly in the ensuing 3 years. The results demonstrated that the decrease in cesarean delivery rate was due to fewer cesareans in non-Hispanic white patients; all other ethnic subgroups showed increasing rates of cesarean delivery throughout the study. Gestational diabetes, gestational hypertension, previous cesarean delivery and breech presentation were all significant risk factors for cesarean delivery during the entire study period. Induction of labor and premature rupture of the membranes were associated with lower rates of cesarean delivery in twins.The recent decrease in the cesarean delivery rate in twin gestation appears to be largely attributable to a decline in cesarean among pregnancies complicated by breech presentation in non-Hispanic white women, and may reflect a health care disparity that deserves further research.

  View details for DOI 10.1016/j.ejogrb.2016.08.031

  View details for PubMedID 27591713

• Trends in the delivery route of twin pregnancies in the United States, 2006-2013. European journal of obstetrics, gynecology, and reproductive biology Bateni, Z. H., Clark, S. L., Sangi-Haghpeykar, H., Aagaard, K. M., Blumenfeld, Y. J., Ramin, S. M., Lee, H. C., Fox, K. A., Moaddab, A., Shamshirsaz, A. A., Salmanian, B., Hosseinzadeh, P., Racusin, D. A., Erfani, H., Espinoza, J., Dildy, G. A., Belfort, M. A., Shamshirsaz, A. A. 2016; 205: 120-126

  View details for DOI 10.1016/j.ejogrb.2016.08.031

  View details for PubMedID 27591713

• Opportunities for maternal transport for delivery of very low birth weight infants. Journal of perinatology Robles, D., Blumenfeld, Y. J., Lee, H. C., Gould, J. B., Main, E., Profit, J., Melsop, K., Druzin, M. 2016

  Abstract

  To assess frequency of very low birth weight (VLBW) births at non-level III hospitals.Retrospective cohort study using linked California birth certificate and discharge data of 2008 to 2010 for deliveries of singleton or first-born infant of multiple gestations with birth weight 400 to 1500 g. Delivery rates by neonatal level of care were obtained. Risk of delivery at non-level III centers was estimated in univariable and multivariable models.Of the 1 508 143 births, 13 919 (9.2%) were VLBW; birth rate at non-level III centers was 14.9% (8.4% in level I and 6.5% in level II). Median rate of VLBW births was 0.3% (range 0 to 4.7%) annually at level I and 0.5% (range 0 to 1.6%) at level II hospitals. Antepartum stay for >24 h occurred in 14.0% and 26.9% of VLBW births in level I and level II hospitals, respectively.Further improvement is possible in reducing VLBW infant delivery at suboptimal sites, given the window of opportunity for many patients.Journal of Perinatology advance online publication, 29 September 2016; doi:10.1038/jp.2016.174.

  View details for DOI 10.1038/jp.2016.174

  View details for PubMedID 27684426

• HDlive imaging of a giant omphalocele. Ultrasound in obstetrics & gynecology Blumenfeld, Y. J., E Milan, K., Rubesova, E., Sylvester, K. G., DAVIS, A. S., Chock, V. Y., Hintz, S. R. 2016; 48 (3): 407-408

  View details for DOI 10.1002/uog.15993

  View details for PubMedID 27299988

• Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period. Journal of ultrasound in medicine Blumenfeld, Y. J., Davis, A. S., Hintz, S. R., Milan, K., Messner, A. H., Barth, R. A., Hudgins, L., Chueh, J., Homeyer, M., Bernstein, J. A., Enns, G., Atwal, P., Manning, M. 2016; 35 (6): 1353-1358

  Abstract

  Binder phenotype, or maxillonasal dysostosis, is a distinctive pattern of facial development characterized by a short nose with a flat nasal bridge, an acute nasolabial angle, a short columella, a convex upper lip, and class III malocclusion. We report 3 cases of prenatally diagnosed Binder phenotype associated with perinatal respiratory impairment.

  View details for DOI 10.7863/ultra.15.02050

  View details for PubMedID 27162279

• Does Time of Delivery Influence the Risk of Neonatal Morbidity? American journal of perinatology Brookfield, K. F., O'Malley, K., El-Sayed, Y. Y., Blumenfeld, Y. J., Butwick, A. J. 2016; 33 (5): 502-509

  Abstract

  Objective To examine whether time of delivery influences the risk of neonatal morbidity among women with singleton pregnancies. Study Design Secondary analysis of data from the Maternal Fetal Medicine Units Network Factor V Leiden Mutation study. We categorized time of delivery as day (07:00-16:59), evening (17:00-23:59), and overnight (midnight-06:59). Severe neonatal morbidity was defined by at least one of the following: respiratory distress syndrome, transient tachypnea of the newborn, sepsis, seizures, neonatal intensive care admission, or a 5-minute APGAR ≤3. We calculated frequencies of severe neonatal morbidity by time of delivery. Multivariate analysis was performed to determine whether time of delivery was independently associated with severe neonatal morbidity. Results Among 4,087 women, 1,917 (46.9%) delivered during the day, 1,140 (27.9%) delivered in the evening, and 1,030 (25.2%) delivered overnight. We observed no significant differences in the rates of neonatal morbidity between delivery time periods (day: 12.3%; evening: 12.8%; overnight: 12.6%; p = 0.9). No significant association was observed between time of delivery and neonatal morbidity after adjustment for maternal, obstetric, and peripartum factors. Conclusion Our findings suggest that time of delivery is not associated with severe neonatal morbidity.

  View details for DOI 10.1055/s-0035-1567891

  View details for PubMedID 26595143

• Does Time of Delivery Influence the Risk of Neonatal Morbidity? AMERICAN JOURNAL OF PERINATOLOGY Brookfield, K. F., O'Malley, K., Ei-Sayed, Y. Y., Blumenfeld, Y. J., Butwick, A. J. 2016; 33 (5): 502-509

  View details for DOI 10.1055/s-0035-1567891

  View details for Web of Science ID 000373660900012

• Patient preferences for prenatal testing of microdeletion and microduplication syndromes PRENATAL DIAGNOSIS Calonico, E., Blumenfeld, Y. J., Hudgins, L., Taylor, J. 2016; 36 (3): 244-251

  Abstract

  To assess pregnant women's preferences regarding prenatal testing for microdeletion and microduplication conditions, and to identify what factors might influence their decisions.A written questionnaire was administered to pregnant women presenting for prenatal ultrasound. The questionnaire described the salient features of six microdeletion and microduplication syndromes of varying penetrance. Women were asked to indicate whether they would choose to test for each condition via an invasive diagnostic procedure, a non-invasive blood test, or not at all. Demographic and obstetrical data were also obtained.One hundred twenty-four women returned the questionnaire (response rate 89.2%). More than half of women (50.8%) made distinctions between conditions, and would choose a mixture of invasive testing, non-invasive testing, and no testing, depending on the condition. Testing preferences differed based on penetrance and features of the conditions. Prior prenatal testing, ethnicity, and education level were significantly associated (p<0.05) with testing decisions.Pregnant women do not perceive all microdeletion and microduplication conditions to be equal, and prenatal testing for such conditions is not always considered an all or none process. A test menu or filtering process may be a more optimal method of offering prenatal testing for microdeletion and microduplication conditions.

  View details for DOI 10.1002/pd.4760

  View details for Web of Science ID 000372555000007

• Racial and Ethnic Disparities in Mode of Anesthesia for Cesarean Delivery ANESTHESIA AND ANALGESIA Butwick, A. J., Blumenfeld, Y. J., Brookfield, K. F., Nelson, L. M., Weiniger, C. F. 2016; 122 (2): 472-479

  Abstract

  Racial and ethnic disparities have been identified in the provision of neuraxial labor analgesia. These disparities may exist in other key aspects of obstetric anesthesia care. We sought to determine whether racial/ethnic disparities exist in mode of anesthesia for cesarean delivery (CD).Women who underwent CD between 1999 and 2002 at 19 different obstetric centers in the United States were identified from the Maternal-Fetal Medicine Units Network Cesarean Registry. Race/ethnicity was categorized as: Caucasian, African American, Hispanic, and Non-Hispanic Others (NHOs). Mode of anesthesia was classified as neuraxial anesthesia (spinal, epidural, or combined spinal-epidural anesthesia) or general anesthesia. To account for obstetric and non-obstetric covariates that may have influenced mode of anesthesia, multiple logistic regression analyses were performed by using sequential sets of covariates.The study cohort comprised 50,974 women who underwent CD. Rates of general anesthesia among racial/ethnic groups were as follows: 5.2% for Caucasians, 11.3% for African Americans, 5.8% for Hispanics, and 6.6% for NHOs. After adjustment for obstetric and non-obstetric covariates, African Americans had the highest odds of receiving general anesthesia compared with Caucasians (adjusted odds ratio [aOR] = 1.7; 95% confidence interval [CI], 1.5-1.8; P < 0.001). The odds of receiving general anesthesia were also higher among Hispanics (aOR = 1.1; 95% CI, 1.0-1.3; P = 0.02) and NHOs (aOR = 1.2; 95% CI, 1.0-1.4; P = 0.03) compared with Caucasians, respectively. In our sensitivity analysis, we reconstructed the models after excluding women who underwent neuraxial anesthesia before general anesthesia. The adjusted odds of receiving general anesthesia were similar to those in the main analysis: African Americans (aOR = 1.7; 95% CI, 1.5-1.9; P < 0.001); Hispanics (aOR = 1.2; 95% CI, 1.1-1.4; P = 0.006); and NHOs (aOR = 1.2; 95% CI, 1.0-1.5; P = 0.05).Based on data from the Cesarean Registry, African American women had the highest odds of undergoing general anesthesia for CD compared with Caucasian women. It is uncertain whether this disparity exists in current obstetric practice.

  View details for DOI 10.1213/ANE.0000000000000679

  View details for Web of Science ID 000368646500001

• Effect of antepartum meconium staining on perinatal and neonatal outcomes among pregnancies with gastroschisis JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE Girsen, A. I., Wallenstein, M. B., Davis, A. S., Hintz, S. R., Desai, A. K., Mansour, T., Merritt, T. A., Druzin, M. L., Oshiro, B. T., Blumenfeld, Y. J. 2016; 29 (15): 2499-2503

  View details for DOI 10.3109/14767058.2015.1090971

  View details for Web of Science ID 000374775200021

  View details for PubMedID 26445130

• Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis ULTRASOUND IN OBSTETRICS & GYNECOLOGY GRANDE, M., Jansen, F. A., Blumenfeld, Y. J., Fisher, A., Odibo, A. O., Haak, M. C., Borrell, A. 2015; 46 (6): 650-658

  View details for DOI 10.1002/uog.14880

  View details for Web of Science ID 000365855700004

  View details for PubMedID 25900824

• Prenatal Diagnosis and Perinatal Outcomes of Congenital Megalourethra: A Multicenter Cohort Study and Systematic Review of the Literature. Journal of ultrasound in medicine Moaddab, A., Sananes, N., Hernandez-Ruano, S., Werneck Britto, I. S., Blumenfeld, Y., Stoll, F., Favre, R., Ruano, R. 2015; 34 (11): 2057-2064

  Abstract

  The purpose of this study was to evaluate the prenatal findings and postnatal outcomes in fetuses with congenital megalourethra.This retrospective study reviewed our experience and the literature between 1989 and 2014. Prenatal findings were evaluated and compared with postnatal findings, including neonatal mortality and abnormal renal function (need for dialysis or renal transplantation).Fifty fetuses with congenital megalourethra were analyzed, including 6 cases diagnosed in our centers. Most cases (n = 43 [86.0%]) were diagnosed in the second trimester. Only 1 case was diagnosed in the first trimester, whereas 6 cases (12.0%) were diagnosed in the third trimester. Thirty-five fetuses (70.0%) survived. Bilateral hydroureters were associated with perinatal death (P= .024). Among the survivors, 41.9% of the neonates had renal impairment. The following factors were associated with postnatal renal impairment: presence of severe oligohydramnios/anhydramnios (P = .033), bilateral hydronephrosis (P = .008), and earlier gestational age at delivery (P = .022).In fetal megalourethra, bilateral hydroureters, bilateral hydronephrosis, and severe oligohydramnios/anhydramnios are associated with neonatal mortality and renal impairment.

  View details for DOI 10.7863/ultra.14.12064

  View details for PubMedID 26446816

• Prepregnancy Obesity and Risks of Stillbirth PLOS ONE Carmichael, S. L., Blumenfeld, Y. J., Mayo, J., Wei, E., Gould, J. B., Stevenson, D. K., Shaw, G. M. 2015; 10 (10)

  Abstract

  We examined the association of maternal obesity with risk of stillbirth, focusing on whether the pattern of results varied by gestational age or maternal race-ethnicity or parity.Analyses included 4,012 stillbirths and 1,121,234 liveborn infants delivered in California from 2007-2010. We excluded stillbirths due to congenital anomalies, women with hypertensive disorders or diabetes, and plural births, to focus on fetuses and women without these known contributing conditions. We used Poisson regression to estimate relative risks (RR) and 95% confidence intervals (CI). Separate models were run for stillbirths delivered at 20-23, 24-27, 28-31, 32-36, 37-41 weeks, relative to liveborn deliveries at 37-41 weeks.For stillbirth at 20-23 weeks, RRs were elevated for all race-ethnicity and parity groups. The RR for a 20-unit change in BMI (which reflects the approximate BMI difference between a normal weight and an Obese III woman) was 3.5 (95% CI 2.2, 5.6) for nulliparous white women and ranged from 1.8 to 5.0 for other sub-groups. At 24-27 weeks, the association was significant (p<0.05) only for multiparous non-Hispanic whites; at 28-31 weeks, for multiparous whites and nulliparous whites and blacks; at 32-36 weeks, for multiparous whites and nulliparous blacks; and at 37-41 weeks, for all groups except nulliparous blacks. The pattern of results was similar when restricted to stillbirths due to unknown causes and somewhat stronger when restricted to stillbirths attributable to obstetric causes.Increased risks were observed across all gestational ages, and some evidence of heterogeneity of the associations was observed by race-ethnicity and parity.

  View details for DOI 10.1371/journal.pone.0138549

  View details for Web of Science ID 000363183100017

  View details for PubMedID 26466315

  View details for PubMedCentralID PMC4605840

• Maternal characteristics and mid-pregnancy serum biomarkers as risk factors for subtypes of preterm birth. BJOG : an international journal of obstetrics and gynaecology Jelliffe-Pawlowski, L. L., Baer, R. J., Blumenfeld, Y. J., Ryckman, K. K., O'Brodovich, H. M., Gould, J. B., Druzin, M. L., El-Sayed, Y. Y., Lyell, D. J., Stevenson, D. K., Shaw, G. M., Currier, R. J. 2015; 122 (11): 1484-1493

  Abstract

  To examine the relationship between maternal characteristics, serum biomarkers and preterm birth (PTB) by spontaneous and medically indicated subtypes.Population-based cohort.California, United States of America.From a total population of 1 004 039 live singleton births in 2009 and 2010, 841 665 pregnancies with linked birth certificate and hospital discharge records were included.Characteristics were compared for term and preterm deliveries by PTB subtype using logistic regression and odds ratios adjusted for maternal characteristics and obstetric factors present in final stepwise models and 95% confidence intervals. First-trimester and second-trimester serum marker levels were analysed in a subset of 125 202 pregnancies with available first-trimester and second-trimester serum biomarker results.PTB by subtype.In fully adjusted models, ten characteristics and three serum biomarkers were associated with increased risk in each PTB subtype (Black race/ethnicity, pre-existing hypertension with and without pre-eclampsia, gestational hypertension with pre-eclampsia, pre-existing diabetes, anaemia, previous PTB, one or two or more previous caesarean section(s), interpregnancy interval ≥ 60 months, low first-trimester pregnancy-associated plasma protein A, high second-trimester α-fetoprotein, and high second-trimester dimeric inhibin A). These risks occurred in 51.6-86.2% of all pregnancies ending in PTB depending on subtype. The highest risk observed was for medically indicated PTB <32 weeks in women with pre-existing hypertension and pre-eclampsia (adjusted odds ratio 89.7, 95% CI 27.3-111.2).Our findings suggest a shared aetiology across PTB subtypes. These commonalities point to targets for further study and exploration of risk reduction strategies.Findings suggest a shared aetiology across preterm birth subtypes. Patterns may inform risk reduction efforts.

  View details for DOI 10.1111/1471-0528.13495

  View details for PubMedID 26111589

• Fetofetal Transfusion Syndrome in Monochorionic-Triamniotic Triplets Treated with Fetoscopic Laser Ablation: Report of Two Cases and A Systematic Review. AJP reports Blumenfeld, Y. J., Shamshirsaz, A. A., Belfort, M. A., Hintz, S. R., Moaddab, A., Ness, A., Chueh, J., El-Sayed, Y. Y., Ruano, R. 2015; 5 (2): e153-60

  Abstract

  Objective This study aims to determine the clinical outcomes of monochorionic-triamniotic (MT) pregnancies complicated by severe fetofetal transfusion undergoing laser photocoagulation. Study Design We report two cases of MT triplets complicated by fetofetal transfusion syndrome (FFTS) and a systematic review classifying cases into different subtypes: MT with two donors and one recipient, MT with one donor and two recipients, MT with one donor, one recipient, and one unaffected triplet. The number of neonatal survivors was analyzed based on this classification as well as Quintero staging. Results A total of 26 cases of MT triples complicated by FFTS were analyzed. In 56% of the cases, the FFTS involved all three triplets, 50% of whom had an additional donor and 50% an additional recipient. Among the 24 cases that survived beyond 1 week after the procedure, the average gestational age of delivery was 29.6 weeks, and the average interval from procedure to delivery was 10.1 weeks. The overall neonatal survival rate was 71.7%, with demises occurring equally between donor and recipient triplets. Overall neonatal survival including survival of at least two fetuses occurred with equal frequency between the different groups. Conclusion Significant neonatal survival can be achieved in most cases of MT triplets with FFTS.

  View details for DOI 10.1055/s-0035-1552931

  View details for PubMedID 26495175

  View details for PubMedCentralID PMC4603872

• Mode of anaesthesia for preterm Caesarean delivery: secondary analysis from the Maternal-Fetal Medicine Units Network Caesarean Registry†‡. British journal of anaesthesia Butwick, A. J., El-Sayed, Y. Y., Blumenfeld, Y. J., Osmundson, S. S., Weiniger, C. F. 2015; 115 (2): 267-274

  Abstract

  Preterm delivery is often performed by Caesarean section. We investigated modes of anaesthesia and risk factors for general anaesthesia among women undergoing preterm Caesarean delivery.Women undergoing Caesarean delivery between 24(+0) and 36(+6) weeks' gestation were identified from a multicentre US registry. The mode of anaesthesia was classified as neuraxial anaesthesia (spinal, epidural, or combined spinal and epidural) or general anaesthesia. Logistic regression was used to identify patient characteristic, obstetric, and peripartum risk factors associated with general anaesthesia.Within the study cohort, 11 539 women had preterm Caesarean delivery; 9510 (82.4%) underwent neuraxial anaesthesia and 2029 (17.6%) general anaesthesia. In our multivariate model, African-American race [adjusted odds ratio (aOR)=1.9; 95% confidence interval (CI)=1.7-2.2], Hispanic ethnicity (aOR=1.5; 95% CI=1.2-1.8), other race (aOR=1.4; 95% CI=1.1-1.9), and haemolysis, elevated liver enzymes and low platelets (HELLP) syndrome or eclampsia (aOR=2.8; 95% CI=2.2-3.5) were independently associated with receiving general anaesthesia for preterm Caesarean delivery. Women with an emergency Caesarean delivery indication had the highest odds for general anaesthesia (aOR=3.5; 95% CI=3.1-3.9). For every 1 week decrease in gestational age at delivery, the adjusted odds of general anaesthesia increased by 13%.In our study cohort, nearly one in five women received general anaesthesia for preterm Caesarean delivery. Although potential confounding by unmeasured factors cannot be excluded, our findings suggest that early gestational age at delivery, emergent Caesarean delivery indications, hypertensive disease, and non-Caucasian race or ethnicity are associated with general anaesthesia for preterm Caesarean delivery.

  View details for DOI 10.1093/bja/aev108

  View details for PubMedID 25956901

• Maternal serum markers, characteristics and morbidly adherent placenta in women with previa JOURNAL OF PERINATOLOGY Lyell, D. J., Faucett, A. M., Baer, R. J., Blumenfeld, Y. J., Druzin, M. L., El-Sayed, Y. Y., Shaw, G. M., Currier, R. J., Jelliffe-Pawlowski, L. L. 2015; 35 (8): 570-574

  Abstract

  To examine associations with morbidly adherent placenta (MAP) among women with placenta previa.Women with MAP (cases) and previa alone (controls) were identified from a cohort of 236 714 singleton pregnancies with both first and second trimester prenatal screening, and live birth and hospital discharge records; pregnancies with aneuploidies and neural tube or abdominal wall defects were excluded. Logistic binomial regression was used to compare cases with controls.In all, 37 cases with MAP and 699 controls with previa alone were included. Risk for MAP was increased among multiparous women with pregnancy-associated plasma protein-A (PAPP-A) ⩾95th percentile (⩾2.63 multiple of the median (MoM); adjusted OR (aOR) 8.7, 95% confidence interval (CI) 2.8 to 27.4), maternal-serum alpha fetoprotein (MS-AFP) ⩾95th percentile (⩾1.79 MoM; aOR 2.8, 95% CI 1.0 to 8.0), and 1 and ⩾2 prior cesarean deliveries (CDs; aORs 4.4, 95% CI 1.5 to 13.6 and 18.4, 95% CI 5.9 to 57.5, respectively).Elevated PAPP-A, elevated MS-AFP and prior CDs are associated with MAP among women with previa.

  View details for DOI 10.1038/jp.2015.40

  View details for Web of Science ID 000358684100008

• Risk Factors for Prolonged Postpartum Length of Stay Following Cesarean Delivery AMERICAN JOURNAL OF PERINATOLOGY Blumenfeld, Y. J., El-Sayed, Y. Y., Lyell, D. J., Nelson, L. M., Butwick, A. J. 2015; 32 (9): 825-832

  Abstract

  Objective This study aims to identify risk factors for prolonged postpartum length of stays (LOS) after cesarean delivery (CD). Study Design Patients undergoing CD were sourced from a multicenter registry of 19 academic centers between 1999 and 2002 (n = 57,067). Prolonged postpartum LOS was defined as a hospitalization duration ≥ 90th centile. Maternal, antepartum, perioperative, and neonatal variables were compared between women with and without prolonged postpartum LOS. Results The 90th centile for postpartum LOS was 4 days, with 14,954 women experiencing prolonged postpartum LOS. Women with perioperative complications had the highest independent risk for a prolonged postpartum LOS: ileus (adjusted odds ratio [aOR] = 12.28; 95% confidence interval CI = 8.98-16.8); endometritis (aOR = 10.45; 95% CI = 9.51-11.5), and wound complications (aOR = 5.49; 95% CI = 4.54-6.63). Several antepartum, perioperative, and neonatal variables were associated with a prolonged postpartum LOS. Conclusion Perioperative complications had the highest risk for prolonged LOS after CD. Strategies to reduce perioperative complications are needed to decrease the health care burden of prolonged post-CD LOS.

  View details for DOI 10.1055/s-0034-1543953

  View details for Web of Science ID 000358571000004

• Early-Onset Severe Preeclampsia by First Trimester Pregnancy-Associated Plasma Protein A and Total Human Chorionic Gonadotropin AMERICAN JOURNAL OF PERINATOLOGY Jelliffe-Pawlowski, L. L., Baer, R. J., Currier, R. J., Lyell, D. J., Blumenfeld, Y. J., El-Sayed, Y. Y., Shaw, G. M., Druzin, M. L. 2015; 32 (7): 703-711

  View details for DOI 10.1055/s-0034-1396697

  View details for Web of Science ID 000355418600014

  View details for PubMedID 25519199

• Obstetric Ultrasound Quality Improvement Initiative-Utilization of a Quality Assurance Process and Standardized Checklists AMERICAN JOURNAL OF PERINATOLOGY Mrazek-Pugh, B., Blumenfeld, Y. J., Lee, H. C., Chueh, J. 2015; 32 (6): 599-604

  Abstract

  Objective Our aim was to assess whether mandated completion of an electronic checklist and a quality assurance (QA) process improved obstetric (OB) ultrasound image documentation. Study Design A checklist of mandated images based on the American Institute of Ultrasound in Medicine guidelines was created. A baseline QA assessment was performed with a lead senior sonographer reviewing eight random OB examinations for each sonographer. An electronic checklist was then instituted for all OB examinations on each ultrasound machine. It was mandated that each anatomical structure be checked off during real-time image acquisition. A repeat QA assessment of each sonographer was then performed quarterly. Results Baseline assessments were performed between September 2011 and November 2011. Out of the 110 examinations analyzed, only 49% were deemed "complete" with none of the sonographers having a 100% complete examination rate. Following institution of the mandated electronic checklist, a repeat assessment revealed an 81% complete examination rate for the next quarter, and 90% were complete at the end of a year. All sonographers improved their image acquisition regardless of baseline skill level at the initial QA. Conclusion A QA process and a mandated standardized electronic checklist improved the image documentation.

  View details for DOI 10.1055/s-0035-1545667

  View details for Web of Science ID 000354342400013

  View details for PubMedID 25730132

• Second-line uterotonics and the risk of hemorrhage-related morbidity AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY Butwick, A. J., Carvalho, B., Blumenfeld, Y. J., El-Sayed, Y. Y., Nelson, L. M., Bateman, B. T. 2015; 212 (5)

  View details for DOI 10.1016/j.ajog.2015.01.008

  View details for Web of Science ID 000353598500025

  View details for PubMedID 25582104

• Peripartum and neonatal outcomes of small- for- gestational- age infants with gastroschisis PRENATAL DIAGNOSIS Girsen, A. I., Do, S., Davis, A. S., Hintz, S. R., Desai, A. K., Mansour, T., Merritt, T. A., Oshiro, B. T., El-Sayed, Y. Y., Blumenfeld, Y. J. 2015; 35 (5): 477-482

  Abstract

  Neonates with gastroschisis are often small-for-gestational-age (SGA) based on population nomograms. Our objective was to evaluate the effect of SGA on perinatal and neonatal outcomes in cases of gastroschisis.Retrospective study of neonates with prenatally diagnosed gastroschisis from two academic centers between 2008-13. Perinatal and neonatal outcomes of neonates with SGA at birth were compared with appropriate for gestational age (AGA) neonates. The primary composite outcome was defined as any of: neonatal sepsis, short bowel syndrome at discharge, prolonged mechanical ventilation (upper quartile for the cohort), bowel atresia, or death.We identified 112 cases of gastroschisis, 25 of whom (22%) were SGA at birth. There were no differences in adverse peripartum outcomes between SGA and AGA infants. No difference was found in the primary composite neonatal outcome (52% vs. 36%, p=0.21), but SGA infants were more likely to have prolonged mechanical ventilation (44% vs. 22%, p=0.04) and prolonged LOS (52% vs. 22%, p=0.007). After adjusting for GA at delivery, SGA remained associated with prolonged LOS (OR=4.3, CI:1.6 - 11.8).Among infants with gastroschisis, SGA at birth is associated with a 4-fold increase in odds for prolonged LOS, independent of GA. © 2015 John Wiley & Sons, Ltd.

  View details for DOI 10.1002/pd.4562

  View details for Web of Science ID 000353987100011

  View details for PubMedID 25613462

• Reply. Journal of ultrasound in medicine Blumenfeld, Y. J., Rouse, D. J. 2015; 34 (4): 743-?

  View details for DOI 10.7863/ultra.34.4.742.1

  View details for PubMedID 25792594

• Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis ULTRASOUND IN OBSTETRICS & GYNECOLOGY Jansen, F. A., Blumenfeld, Y. J., Fisher, A., Cobben, J. M., Odibo, A. O., Borrell, A., Haak, M. C. 2015; 45 (1): 27-35

  Abstract

  Array comparative genomic hybridization (aCGH) is a molecular cytogenetic technique that is able to detect the presence of copy number variants (CNVs) within the genome. The detection rate of imbalances by aCGH compared to standard karyotyping and 22q11 microdeletion analysis by fluorescence in-situ hybridization (FISH), in the setting of prenatally-diagnosed cardiac malformations, has been reported in several studies. The objective of our study was to perform a systematic literature review and meta-analysis to document the additional diagnostic gain of using aCGH in cases of congenital heart disease (CHD) diagnosed by prenatal ultrasound examination, with the aim of assisting clinicians to determine whether aCGH analysis is warranted when an ultrasonographic diagnosis of CHD is made, and to guide counseling in this setting.Articles in PubMed, EMBASE and Web of Science databases from January 2007 to September 2014 describing CNVs in prenatal cases of CHD were included. Search terms were: 'array comparative genomic hybridization', 'copy number variants' and 'fetal congenital heart defects'. Articles regarding karyotyping or 22q11 deletion only were excluded.Thirteen publications (including 1131 cases of CHD) met the inclusion criteria for the analysis. Meta-analysis indicated an incremental yield of 7.0% (95% CI, 5.3-8.6%) for the detection of CNVs using aCGH, excluding aneuploidy and 22q11 microdeletion cases. Subgroup results showed a 3.4% (95% CI, 0.3-6.6%) incremental yield in isolated CHD cases, and 9.3% (95% CI,  6.6-12%) when extracardiac malformations were present. Overall, an incremental yield of 12% (95% CI, 7.6-16%) was found when 22q11 deletion cases were included. There was an additional yield of 3.4% (95% CI, 2.1-4.6%) for detecting variants of unknown significance (VOUS).In this review we provide an overview of published data and discuss the benefits and limitations of using aCGH. If karyotyping and 22q11 microdeletion analysis by FISH are normal, using aCGH has additional value, detecting pathogenic CNVs in 7.0% of prenatally diagnosed CHD, with a 3.4% additional yield of detecting VOUS. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  View details for DOI 10.1002/uog.14695

  View details for Web of Science ID 000347233300005

  View details for PubMedID 25319878

• Accuracy of Sonographic Chorionicity Classification in Twin Gestations JOURNAL OF ULTRASOUND IN MEDICINE Blumenfeld, Y. J., Momirova, V., Rouse, D. J., Caritis, S. N., Sciscione, A., Peaceman, A. M., Reddy, U. M., Varner, M. W., Malone, F. D., Iams, J. D., Mercer, B. M., Thorp, J. M., Sorokin, Y., Carpenter, M. W., Lo, J., Ramin, S. M., Harper, M. 2014; 33 (12): 2187-2192

  Abstract

  To evaluate the accuracy of sonographic classification of chorionicity in a large cohort of twins and investigate which factors may be associated with sonographic accuracy.We conducted a secondary analysis of a randomized trial of preterm birth prevention in twins. Sonographic classification of chorionicity was compared with pathologic examination of the placenta. Maternal (age, body mass index, diabetes, and hypertension), obstetric (prior cesarean delivery, gestational age at the first sonographic examination, and antepartum bleeding), and sonographic (oligohydramnios, polyhydramnios, and twin-twin transfusion syndrome) factors were assessed for their possible association with accuracy.A total of 545 twin sets in which chorionicity was classified by sonography before 20 weeks' gestation were included; 455 were dichorionic and 90 were monochorionic based on pathologic examination. Sonography misclassified 35 of 545 twin pregnancies (6.4%): 18 of 455 dichorionic twins (4.0%) and 17 of 90 monochorionic twins (19.0%). The sensitivity and specificity of sonographic diagnosis of monochorionicity were 81.1% and 96.0%, respectively. In a multivariable analysis, pregnancies with initial sonographic examinations before 14 weeks' gestation were less likely to have misclassified chorionicity than those with sonographic examinations at 15 to 20 weeks (odds ratio [OR], 0.47; 95% confidence interval [CI], 0.23-0.96). For each week increase in gestational age, the odds of misclassification rose by 10% (OR, 1.10; 95% CI, 1.01-1.2). In the multivariable analysis, maternal age, body mass index, parity, and prior cesarean delivery were not associated with sonographic accuracy.Sonography before 20 weeks incorrectly classified chorionicity in 6.4% of twin gestations. Those with first sonographic examinations performed at earlier gestational ages had improved chorionicity diagnosis.

  View details for DOI 10.7863/ultra.33.12.2187

  View details for Web of Science ID 000346232600017

  View details for PubMedID 25425377

  View details for PubMedCentralID PMC4246197

• Elective ceasarean section at 38 weeks versus 39 weeks: neonatal and maternal outcomes in a randomised controlled trial reply BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY Cho, Y., Carvalho, B., Butwick, A., Blumenfeld, Y., Riley, E. 2014; 121 (13): 1748-1749

  View details for DOI 10.1111/1471-0528.13080

  View details for Web of Science ID 000345508600045

• Association between maternal characteristics, abnormal serum aneuploidy analytes, and placental abruption. American journal of obstetrics and gynecology Blumenfeld, Y. J., Baer, R. J., Druzin, M. L., El-Sayed, Y. Y., Lyell, D. J., Faucett, A. M., Shaw, G. M., Currier, R. J., Jelliffe-Pawlowski, L. L. 2014; 211 (2): 144 e1-9

  View details for DOI 10.1016/j.ajog.2014.03.027

  View details for PubMedID 24631707

• Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia GENETICS IN MEDICINE Gu, W., Koh, W., Blumenfeld, Y. J., El-Sayed, Y. Y., Hudgins, L., Hintz, S. R., Quake, S. R. 2014; 16 (7): 564-567

  View details for DOI 10.1038/gim.2013.194

  View details for Web of Science ID 000338601400012

• Caesarean delivery for twin gestation at 32-38 weeks does not lead to improved clinical outcomes for neonates or mothers. Evidence-based medicine Lee, H. C., Blumenfeld, Y. J. 2014; 19 (3): 119-?

  View details for DOI 10.1136/eb-2013-101655

  View details for PubMedID 24361755

• Noninvasive in vivo monitoring of tissue-specific global gene expression in humans. Proceedings of the National Academy of Sciences of the United States of America Koh, W., Pan, W., Gawad, C., Fan, H. C., Kerchner, G. A., Wyss-Coray, T., Blumenfeld, Y. J., El-Sayed, Y. Y., Quake, S. R. 2014; 111 (20): 7361-7366

  Abstract

  Circulating cell-free RNA in the blood provides a potential window into the health, phenotype, and developmental programs of a variety of human organs. We used high-throughput methods of RNA analysis such as microarrays and next-generation sequencing to characterize the global landscape circulating RNA in a cohort of human subjects. By focusing on genes whose expression is highly specific to certain tissues, we were able to identify the relative contributions of these tissues to circulating RNA and to monitor changes in tissue development and health. As one application of this approach, we performed a longitudinal study on pregnant women and analyzed their combined cell-free RNA transcriptomes across all three trimesters of pregnancy and after delivery. In addition to the analysis of mRNA, we observed and characterized noncoding species such as long noncoding RNA and circular RNA transcripts whose presence had not been previously observed in human plasma. We demonstrate that it is possible to track specific longitudinal phenotypic changes in both the mother and the fetus and that it is possible to directly measure transcripts from a variety of fetal tissues in the maternal blood sample. We also studied the role of neuron-specific transcripts in the blood of healthy adults and those suffering from the neurodegenerative disorder Alzheimer's disease and showed that disease specific neural transcripts are present at increased levels in the blood of affected individuals. Characterization of the cell-free transcriptome in its entirety may thus provide broad insights into human health and development without the need for invasive tissue sampling.

  View details for DOI 10.1073/pnas.1405528111

  View details for PubMedID 24799715

• Urine culture results and adverse outcomes in women with pyelonephritis. Obstetrics and gynecology Berger, V. K., Yeaton-Massey, A., Kassis, J., Blumenfeld, Y. J., Lee, H. C., Druzin, M. 2014; 123: 138S-?

  Abstract

  A retrospective cohort study of patients with pyelonephritis in pregnancy and immediately postpartum was conducted. Participants delivered between 2005 and 2009 at a single university center (Lucile Packard Children's Hospital at Stanford) were reviewed. Pyelonephritis was defined by a temperature greater than 38.0°C, flank pain or costovertebral angle tenderness, and bacteruria or pyuria on urinalysis. All patients with pyelonephritis and urine culture results were included. Univariate analyses were performed with the χ test. Means were compared with the Student's t test.One hundred thirteen patients were admitted with pyelonephritis and had a urine culture performed. Of the entire cohort, 70% of patients were Hispanic, 53% were nulliparous, and most were diagnosed in the third trimester. A total of 94 patients (83%) had positive urine cultures. There were no differences in adverse outcomes (preterm birth, anemia, bacteremia, acute respiratory distress syndrome, and hospital stay) between those with positive and negative urine cultures. Among those with positive cultures, there was a statistically significant increase in preterm birth (less than 37 weeks of gestation) between those with resistant uropathogens and those with pan-sensitive pathogens (26.5% compared with 7.6%, P=.01) ().(Table is included in full-text article.): Among women with pyelonephritis, complications did not differ between those with positive and negative urine culture results. Women with resistant bacterial uropathogens are at increased risk for preterm birth compared with those with sensitive pathogens.

  View details for DOI 10.1097/01.AOG.0000447112.69038.68

  View details for PubMedID 24770006

• On-time scheduled cesarean delivery start time process-improvement initiative. Obstetrics and gynecology Blumenfeld, Y. J., Riley, E., Hilton, G., Lee, H. C., El-Sayed, Y. Y., Druzin, M. L. 2014; 123: 138S-9S

  Abstract

  Cesarean deliveries comprise approximately 30% of all births, many of which are scheduled. Given the labile nature of labor and delivery units, scheduled cesarean deliveries are often delayed. Our aim was to improve on-time scheduled cesarean delivery start times.A multidisciplinary team (obstetrician-gynecologist, nursing, anesthesia, and hospital administration) met to review scheduled cesarean delivery data, identify logistic barriers to on-time starts, and develop a plan to improve cesarean delivery start times. After identifying possible barriers to on-time starts, the following process was instituted: planned preoperative visit 1-2 days before scheduled cesarean delivery, mandatory submission of History & Physical and consent forms by the time of the preoperative visit, and initial preparation of the first scheduled patient for cesaren delivery by nighttime nursing before morning change of shift. The process launched on March 1, 2013. Data from scheduled cesarean deliveries 6 months before and 3 months after the initiative were reviewed and analyzed.Of 1,298 total cesarean deliveries, 423 were scheduled, defined as cesarean delivery scheduled at least 24 hours in advance (300 before and 123 after the initiative). Sixty-four of 300 scheduled cesarean deliveries (21.3%) were on time before compared with 67 of 123 (54.5%) after the initiative began (P<.001). Among delayed cases, there was no difference in the average delay time between those before and after the initiative (55.7 compared with 54.4 minutes P=.93); however, 50.7% of cases were either on time or delayed by 15 minutes or less before the initiative compared with 69.9% of cases after (P<.001).A multidisciplinary initiative significantly increased scheduled cesarean delivery on-time start times.

  View details for DOI 10.1097/01.AOG.0000447113.07157.f3

  View details for PubMedID 24770007

• Oral misoprostol versus vaginal dinoprostone for labor induction in nulliparous women at term. Journal of perinatology Faucett, A. M., Daniels, K., Lee, H. C., El-Sayed, Y. Y., Blumenfeld, Y. J. 2014; 34 (2): 95-99

  Abstract

  Objective:To compare the efficacy of oral misoprostol to vaginal dinoprostone for labor induction in nulliparous women.Study design:Admissions for labor induction from January 2008 to December 2010 were reviewed. Patients receiving oral misoprostol were compared with those receiving vaginal dinoprostone. The primary outcome was time from induction agent administration to vaginal delivery. Secondary outcomes included vaginal delivery within 24 h, mode of delivery and maternal and fetal outcomes.Result:A total of 680 women were included: 483 (71%) received vaginal dinoprostone and 197 (29%) received oral misoprostol. Women who received oral misoprostol had a shorter interval to vaginal delivery (27.2 vs 21.9 h, P<0.0001) and were more likely to deliver vaginally in <24 h (47% vs 64%, P=0.001). There was no increase in the rate of cesarean delivery or adverse maternal or neonatal outcomes.Conclusion:Labor induction with oral misoprostol resulted in shorter time to vaginal delivery without increased adverse outcomes in nulliparous women.

  View details for DOI 10.1038/jp.2013.133

  View details for PubMedID 24157494

• Isolated umbilical vein varix with a poor outcome despite close fetal surveillance. Journal of ultrasound in medicine Brookfield, K. F., Osmundson, S. S., Chetty, S., Chueh, J., Blumenfeld, Y. J., Barth, R. A., El-Sayed, Y. Y. 2013; 32 (9): 1680-1682

  View details for DOI 10.7863/ultra.32.9.1680

  View details for PubMedID 23980233

• Maternal-fetal medicine fellowship 3- and 4-dimensional ultrasound experience: room for improvement. Journal of ultrasound in medicine Ness, A., Blumenfeld, Y. J., Platt, L. D. 2013; 32 (6): 949-953

  Abstract

  The purpose of this study was to assess maternal-fetal medicine (MFM) fellowship 3- and 4-dimensional (3D/4D) ultrasound experience and training.A 53-item prenatal diagnosis survey was emailed to 458 associate members of the Society for Maternal-Fetal Medicine. Associate members include both MFM fellows and recent graduates who are not yet board certified in MFM.A total of 148 associate members completed the survey (32% response rate); 92% were at least in their second year of a fellowship, and 48.1% had completed a fellowship. About half (50.8%) were capable of performing 3D/4D ultrasound examinations ("performers"), whereas 49.2% were not ("nonperformers"). Among performers, about 80% were capable of only basic image acquisition. Overall, 39.5% of respondents received no official 3D/4D ultrasound training, and 55.5% stated that fewer than 1 in 5 of their MFM faculty routinely performed 3D/4D ultrasound examinations. Compared with performers, nonperformers had less formal 3D/4D ultrasound training (53% versus 26%; P = .018) and fewer MFM faculty who performed 3D/4D ultrasound examinations (43% versus 68%; P = .005), and fewer nonperformers were taught by ultrasound mentors (25% versus 47.8%; P = .011).Most fellows are not trained in 3D/4D ultrasound. Greater emphasis on ultrasound mentorship and formalized ultrasound training by MFM faculty during fellowships is needed.

  View details for DOI 10.7863/ultra.32.6.949

  View details for PubMedID 23716515

• Maternal-fetal medicine fellowship obstetrical ultrasound experience: results from a fellowship survey PRENATAL DIAGNOSIS Blumenfeld, Y. J., Ness, A., Platt, L. D. 2013; 33 (2): 158-161

  Abstract

  To assess maternal-fetal medicine (MFM) fellowship obstetrical ultrasound training, scope of practice and research.A 52-item prenatal diagnosis survey was e-mailed to 458 associate members of the Society for Maternal-Fetal Medicine on two separate occasions. Associate members include both MFM fellows and recent graduates who are not yet board certified in MFM.A total of 148 associate members completed the survey (32% response rate), 92% of whom were at least in their second year of fellowship. A total of 58% of fellows spend at least 20% of their fellowship time performing prenatal ultrasounds, and most begin their ultrasound training in their first year. Most fellows describe being comfortable performing routine fetal anatomy surveys, growth ultrasounds and umbilical artery Doppler measurements, but only 48% are nuchal translucency (NT) certified, most through Nuchal Translucency Quality Review. A total of 7% of fellows do not receive structured training in 2D ultrasound, 39% receive no structured training in 3D/4D ultrasound, and 28% receive no structured training in fetal echocardiography. Only 38% can identify an ultrasound mentor during fellowship.Most fellows are trained in ultrasound during their first year of fellowship and feel comfortable performing routine exams. However, ultrasound mentorship, structured training and research in prenatal ultrasound are limited in some programs.

  View details for DOI 10.1002/pd.4029

  View details for Web of Science ID 000314493500010

  View details for PubMedID 23229275

• Conservatively Managed Fetal Goiter: An Alternative to in utero Therapy. Fetal diagnosis and therapy Blumenfeld, Y. J., Davis, A., Milan, K., Chueh, J., Hudgins, L., Barth, R. A., Hintz, S. R. 2013; 34 (3): 184-187

  Abstract

  Fetal goiter may arise from a variety of etiologies including iodine deficiency, overtreatment of maternal Graves' disease, inappropriate maternal thyroid replacement and, rarely, congenital hypothyroidism. Fetal goiter is often associated with a retroflexed neck and polyhydramnios, raising concerns regarding airway obstruction in such cases. Prior reports have advocated for cordocentesis and intra-amniotic thyroid hormone therapy in order to confirm the diagnosis of fetal thyroid dysfunction, reduce the size of the fetal goiter, reduce polyhydramnios, aid with the assistance of maternal thyroid hormone therapy and reduce fetal malpresentation. We report two cases of conservatively managed fetal goiter, one resulting in a vaginal delivery, and no evidence of postnatal respiratory distress despite the presence of polyhydramnios and a retroflexed neck on prenatal ultrasound. © 2013 S. Karger AG, Basel.

  View details for DOI 10.1159/000353387

  View details for PubMedID 23920148

• Infants with Prenatally Diagnosed Anomalies Special Approaches to Preparation and Resuscitation CLINICS IN PERINATOLOGY Colby, C. E., Carey, W. A., Blumenfeld, Y. J., Hintz, S. R. 2012; 39 (4): 871-887

  Abstract

  When a fetal anomaly is suspected, a multidisciplinary approach to diagnosis, counseling, pregnancy management, surveillance, delivery planning, and neonatal care is critical to creating a comprehensive management plan. This article provides a basic framework for integrating prenatal diagnostic and maternal-fetal care considerations, delivery planning, special resuscitation needs, and immediate and later neonatal care and evaluation into developing a thoughtful management plan for infants with prenatally diagnosed complex anomalies including congenital heart disease, intrathoracic masses, fetal airway obstruction, neural tube defects, abdominal wall defects, and skeletal dysplasia.

  View details for DOI 10.1016/j.clp.2012.09.012

  View details for Web of Science ID 000312623900011

  View details for PubMedID 23164184

• Utilization of available prenatal screening and diagnosis: effects of the California screen program JOURNAL OF PERINATOLOGY Blumenfeld, Y. J., Taylor, J., Lee, H. C., Hudgins, L., Sung, J. F., El-Sayed, Y. Y. 2012; 32 (12): 907-912

  Abstract

  In 2009, the California Genetic Disease Branch introduced an aneuploidy screening program allowing Medi-Cal (state insured) patients access to state-sponsored first-trimester screening. The objective of this study was to assess the effect of greater access to prenatal screening on available resources at a single center.Data of prenatal screening and diagnostic procedures performed 4 months before the introduction of the program were compared with those of 12 months following the introduction.Between December 2008 and March 2010, 7689 women underwent first trimester screening, 1286 underwent amniocentesis and 398 underwent chorionic villus sampling. When a comparison was made between the 4 months before and the 12 months after the program's introduction, a greater number of nuchal translucency (NT) examinations was seen to have been performed (384 per month vs 513 per month, P=0.001). Prenatal diagnostic procedures did not increase, but a greater proportion was performed for positive screen results.Introduction of the California screening program was associated with increased NT procedures and fewer invasive procedures for advanced maternal age.

  View details for DOI 10.1038/jp.2012.8

  View details for Web of Science ID 000311831700002

  View details for PubMedID 22402484

• Detecting Prenatal Microdeletions Non-Invasively: Case of a 22q11.2 Deletion Annual Meeting of the Association-for-Molecular-Pathology Gu, W., Fan, H., Blumenfeld, Y., El-Sayed, Y., Quake, S. ELSEVIER SCIENCE INC. 2012: 638–38

  View details for Web of Science ID 000310178600021

• Non-invasive prenatal measurement of the fetal genome NATURE Fan, H. C., Gu, W., Wang, J., Blumenfeld, Y. J., El-Sayed, Y. Y., Quake, S. R. 2012; 487 (7407): 320-?

  Abstract

  The vast majority of prenatal genetic testing requires invasive sampling. However, this poses a risk to the fetus, so one must make a decision that weighs the desire for genetic information against the risk of an adverse outcome due to hazards of the testing process. These issues are not required to be coupled, and it would be desirable to discover genetic information about the fetus without incurring a health risk. Here we demonstrate that it is possible to non-invasively sequence the entire prenatal genome. Our results show that molecular counting of parental haplotypes in maternal plasma by shotgun sequencing of maternal plasma DNA allows the inherited fetal genome to be deciphered non-invasively. We also applied the counting principle directly to each allele in the fetal exome by performing exome capture on maternal plasma DNA before shotgun sequencing. This approach enables non-invasive exome screening of clinically relevant and deleterious alleles that were paternally inherited or had arisen as de novo germline mutations, and complements the haplotype counting approach to provide a comprehensive view of the fetal genome. Non-invasive determination of the fetal genome may ultimately facilitate the diagnosis of all inherited and de novo genetic disease.

  View details for DOI 10.1038/nature11251

  View details for Web of Science ID 000306506500033

  View details for PubMedID 22763444

• Rectus muscle and visceral peritoneum closure at cesarean delivery and intraabdominal adhesions 78th Annual Meeting of the Pacific-Coast-Obstetrical-and-Gynecological-Society Lyell, D. J., Caughey, A. B., Hu, E., Blumenfeld, Y., El-Sayed, Y. Y., Daniels, K. MOSBY-ELSEVIER. 2012

  Abstract

  The purpose of this study was to evaluate the effect of the rectus muscle and visceral peritoneum closure at cesarean delivery on adhesions.We performed a secondary analysis of a prospective cohort study of women who underwent first repeat cesarean delivery. Surgeons scored the severity and location of adhesions. Records were abstracted to assess previous surgical techniques.The original cohort included 173 patients. Rectus muscle closure was associated with fewer combined filmy and dense adhesions overall (27.5% vs 46%; P = .04) and fewer dense adhesions overall (17.5% vs 46%; P = .001; adjusted odds ratio, [aOR], 0.24; 95% confidence interval [CI], 0.09-0.65), particularly from fascia to omentum (aOR, 0.08; 95% CI, 0.007-0.82). Visceral peritoneum closure was associated with increased dense fascia-to-omentum adhesions (aOR, 15.78; 95% CI, 1.81-137.24).Closure of the rectus muscles at cesarean delivery may reduce adhesions, and visceral peritoneum closure may increase them. Surgical techniques at cesarean delivery should be assessed independently, because they may have opposite effects on adhesion formation.

  View details for DOI 10.1016/j.ajog.2012.02.033

  View details for Web of Science ID 000304442900029

  View details for PubMedID 22463952

• Trends in Cesarean Delivery for Twin Births in the United States: 1995-2008 Reply OBSTETRICS AND GYNECOLOGY Lee, H. C., Gould, J. B., Boscardin, W. J., El-Sayed, Y. Y., Blumenfeld, Y. J. 2012; 119 (3): 658-659

  View details for DOI 10.1097/AOG.0b013e318248f682

  View details for Web of Science ID 000300637400029

• Profiling maternal plasma cell-free RNA by RNA-sequencing: a comprehensive approach 32nd Annual Pregnancy Meeting of the Society-for-Maternal-Fetal-Medicine (SMFM) Koh, W., Fan, C., Blumenfeld, Y., Wong, R., El-Sayed, Y., Kogut, E., Quake, S. MOSBY-ELSEVIER. 2012: S324–S324

  View details for Web of Science ID 000298889900725

• Erratum: Non-invasive prenatal measurement of the fetal genome. Nature Fan, H. C., Gu, W., Wang, J., Blumenfeld, Y. J., El-Sayed, Y. Y., Quake, S. R. 2012

  View details for DOI 10.1038/nature11423

  View details for PubMedID 22878723

• Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake PRENATAL DIAGNOSIS Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., Ormond, K. E. 2011; 31 (13): 1292-1299

  Abstract

  To investigate pregnant women's level of future interest in noninvasive prenatal diagnosis (NIPD) and what factors might affect expected uptake of this testing.Written questionnaires were administered to women in their third trimester.One hundred fourteen women returned the questionnaire (80.9% response rate). Of these, 71.9% reported interest in NIPD, 22.7% were ambivalent, and 5.4% were uninterested. Safety of the fetus was the single most important factor in 75% of women's decisions. Factors associated with increased interest in NIPD included: older age (p = 0.036), higher education (p = 0.013), Caucasian or Asian ethnicity (p = 0.011), and higher likelihood to terminate an affected pregnancy (p = 0.002). Nearly 20% of women reported that they would do whatever their doctor recommended regarding NIPD, and 94.4% of women wished to meet with a genetic counselor at some point to discuss NIPD.The majority of pregnant women report hypothetical interest in NIPD, primarily because of increased safety for the fetus, although a significant minority are uninterested or ambivalent. Discussions with healthcare providers regarding NIPD, and their recommendations, are likely to be an important factor in women's decisions about this testing. As such, adequate discussion of the implications of prenatal diagnostic testing will be critical.

  View details for DOI 10.1002/pd.2888

  View details for Web of Science ID 000298566900013

  View details for PubMedID 22028097

  View details for PubMedCentralID PMC3225485

• Trends in Cesarean Delivery for Twin Births in the United States 1995-2008 OBSTETRICS AND GYNECOLOGY Lee, H. C., Gould, J. B., Boscardin, W. J., El-Sayed, Y. Y., Blumenfeld, Y. J. 2011; 118 (5): 1095-1101

  Abstract

  To estimate trends and risk factors for cesarean delivery for twins in the United States.This was a cross-sectional study in which we calculated cesarean delivery rates for twins from 1995 to 2008 using National Center for Health Statistics data. We compared cesarean delivery rates by year and for vertex compared with breech presentation. The order of presentation for a given twin pair could not be determined from the available records and therefore analysis was based on individual discrete twin data. Multivariable logistic regression was used to estimate independent risk factors, including year of birth and maternal factors, for cesarean delivery.Cesarean delivery rates for twin births increased steadily from 53.4% to 75.0% in 2008. Rates rose for the breech twin category (81.5%-92.1%) and the vertex twin category (45.1%-68.2%). The relative increase in the cesarean delivery rate for preterm and term neonates was similar. After risk adjustment, there was an average increase noted in cesarean delivery of 5% each year during the study period (risk ratio 1.05, 95% confidence interval 1.04-1.05).Cesarean delivery rates for twin births increased dramatically from 1995 to 2008. This increase is significantly higher than that which could be explained by an increase in cesarean delivery for breech presentation of either the presenting or second twin.

  View details for DOI 10.1097/AOG.0b013e3182318651

  View details for Web of Science ID 000296292600018

  View details for PubMedID 22015878

  View details for PubMedCentralID PMC3202294

• Do adhesions at repeat cesarean delay delivery of the newborn? 31st Annual Scientific Meeting of the Society-of-Maternal-Fetal-Medicine (SMFM) Greenberg, M. B., Daniels, K., Blumenfeld, Y. J., Caughey, A. B., Lyell, D. J. MOSBY-ELSEVIER. 2011

  Abstract

  We sought to assess whether the presence and severity of adhesions at first repeat cesarean delivery are associated with delayed delivery of the newborn.We conducted secondary analysis of a prospective cohort of women undergoing first repeat cesarean. Severity and location of adhesions were reported by surgeons immediately postoperatively. We compared adhesion density scores with delivery data.Of 145 women analyzed, 92 (63.5%) had adhesions and 53 (36.5%) did not. Mean incision to delivery time in women with adhesion scores >3 was 19.8 minutes, compared to 15.6 minutes with scores ≤ 3 (P = .04). More women with adhesion scores >3 remained undelivered at 30 minutes after incision compared to scores ≤ 3 (17.9% vs 5.1%; odds ratio, 7.6; 95% confidence interval, 1.6-34.5), after controlling for potential confounders.Among women undergoing first repeat cesarean, severity of adhesions may delay delivery of the newborn. Study of techniques to reduce adhesions may be warranted to prevent delayed delivery at repeat cesarean.

  View details for DOI 10.1016/j.ajog.2011.06.088

  View details for Web of Science ID 000296084600050

  View details for PubMedID 21864825

• Sextuplet heterotopic pregnancy presenting as ovarian hyperstimulation syndrome and hemoperitoneum FERTILITY AND STERILITY Fisher, S. L., Massie, J. A., Blumenfeld, Y. J., Lathi, R. B. 2011; 95 (7)

  Abstract

  To describe a case of bilateral ruptured heterotopic pregnancies presenting as persistent ovarian hyperstimulation syndrome in a quadruplet pregnancy.Case report.University hospital and clinic.An infertile patient who conceived using gonadotropin therapy.Culdocentesis with resultant aspiration of sanguinous fluid prompted laparoscopic exploration and bilateral salpingectomies.Not applicable.Gross hemoperitoneum and ruptured bilateral heterotopic sextuplet pregnancy.Patients who conceive after gonadotropin therapy should be closely monitored during treatment and in early pregnancy to recognize and minimize morbidity and complications. After superovulation, the presence of an intrauterine pregnancy, either single or multiple, does not rule out the possibility of ectopic pregnancy, and this should always be considered as a possibility in the setting of acute anemia.

  View details for DOI 10.1016/j.fertnstert.2011.01.172

  View details for Web of Science ID 000290791000088

  View details for PubMedID 21406303

• Prenatal Diagnosis of Cross-Fused Renal Ectopia: Does Color Doppler and 3-Dimensional Sonography Help? JOURNAL OF ULTRASOUND IN MEDICINE Chang, P. L., Mrazek-Pugh, B., Blumenfeld, Y. J. 2011; 30 (4): 578-580

  View details for Web of Science ID 000291126800019

  View details for PubMedID 21460160

• Antenatal Steroid Administration for Premature Neonates in California OBSTETRICS AND GYNECOLOGY Lee, H. C., Lyndon, A., Blumenfeld, Y. J., Dudley, R. A., Gould, J. B. 2011; 117 (3): 603-609

  Abstract

  To estimate risk factors for premature neonates not receiving antenatal steroids in a population-based cohort and to determine whether the gains of a quality-improvement collaborative project on antenatal steroid administration were sustained long-term.Clinical data for premature neonates born in 2005–2007 were obtained from the California Perinatal Quality Care Collaborative, which collects data on more than 90% of neonatal admissions in California. Eligible neonates had a birth weight of less than 1,500 g or gestational age less than 34 weeks and were born at a Collaborative hospital. These data were linked to administrative data from California Vital Statistics. Sociodemographic and medical risk factors for not receiving antenatal steroids were determined. We also examined the effect of birth hospital participation in a previous quality-improvement collaborative project. A random effects logistic regression model was used to determine independent risk factors.Of 15,343 eligible neonates, 23.1% did not receive antenatal steroids in 2005–2007. Hispanic mothers (25.6%), mothers younger than age 20 (27.6%), and those without prenatal care (52.2%) were less likely to receive antenatal steroids. Mothers giving birth vaginally (26.8%) and mothers with a diagnosis of fetal distress (26.5%) were also less likely to receive antenatal steroids. Rupture of membranes before delivery and multiple gestations were associated with higher likelihood of antenatal steroid administration. Hospitals that participated in a quality-improvement collaborative in 1999– 2000 had higher rates of antenatal steroid administration (85% compared with 69%, P<.001).A number of eligible mothers do not receive antenatal steroids. Quality-improvement initiatives to improve antenatal steroid administration could target specific high-risk groups.

  View details for DOI 10.1097/AOG.0b013e31820c3c9b

  View details for Web of Science ID 000287649400013

  View details for PubMedID 21446208

  View details for PubMedCentralID PMC3072287

• MR imaging in cases of antenatal suspected appendicitis - a meta-analysis JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE Blumenfeld, Y. J., Wong, A. E., Jafari, A., Barth, R. A., El-Sayed, Y. Y. 2011; 24 (3): 485-488

  Abstract

  Appendicitis is the most common surgical emergency in pregnancy. Acute appendicitis is often difficult to diagnose clinically, and concerns regarding antenatal CT imaging limit its use resulting in high false negative rates at laparotomy. MRI has recently been reported as a reasonable alternative to CT imaging in cases of suspected appendicitis. Our objective was to perform a meta-analysis of recently published data regarding the utility of MR imaging in cases of antenatal suspected acute appendicitis.We searched the PubMed database using keywords 'MRI', 'appendicitis', and 'pregnancy'. Five case series describing the role of MRI in cases of antenatal appendicitis were included. The sensitivity, specificity, positive, and negative predictive values were calculated.Two hundred twenty-nine patients were included in the study. In the first analysis in which non-diagnostic scans were excluded, the sensitivity, specificity, positive and negative predictive values of MRI for diagnosing appendicitis were 95.0%, 99.9%, 90.4%, and 99.5%, respectively. In the second analysis, which included non-diagnostic scans, the sensitivity, specificity, positive and negative predictive values were 90.5%, 98.6%, 86.3%, and 99.0%, respectivelyMR imaging may be useful in cases of suspected antenatal appendicitis. Data are still limited and larger prospective studies are necessary to confirm this finding.

  View details for DOI 10.3109/14767058.2010.506227

  View details for Web of Science ID 000286993000020

  View details for PubMedID 20695758

• Genomic imprinting in offspring conceived with assisted reproductive technology 31st Annual Scientific Meeting of the Society-of-Maternal-Fetal-Medicine (SMFM) Norton, M., Haston, K., Reijo-Pera, R., Chueh, J., Blumenfeld, Y., Bianco, K., Zlatnik, M. MOSBY-ELSEVIER. 2011: S284–S285

  View details for Web of Science ID 000285927500719

• The Effect of Preterm Premature Rupture of Membranes on Neonatal Mortality Rates 30th Annual Clinical Meeting of the Society-for-Maternal-Fetal-Medicine Blumenfeld, Y. J., Lee, H. C., Gould, J. B., Langen, E. S., Jafari, A., El-Sayed, Y. Y. LIPPINCOTT WILLIAMS & WILKINS. 2010: 1381–86

  Abstract

  To estimate the effect of preterm premature rupture of membranes (PROM) on neonatal mortality.A cross-sectional study using a state perinatal database (California Perinatal Quality Care Collaborative) was performed. Prenatal data, including ruptured membranes, corticosteroid administration, maternal age, maternal race, maternal hypertension, mode of delivery, and prenatal care, were recorded. Mortality rates were compared for neonates born between 24 and 34 weeks of gestation without preterm PROM to those with recent (less than 18 hours before delivery) and prolonged (more than 18 hours before delivery) preterm PROM. Neonatal sepsis rates were also examined.Neonates born between 24 0/7 and 34 0/7 weeks of gestation from 127 California neonatal intensive care units between 2005 and 2007 were included (N=17,501). When analyzed by 2-week gestational age groups, there were no differences in mortality rates between those born with and without membrane rupture before delivery. The presence of prolonged preterm PROM was associated with decreased mortality at 24 to 26 weeks of gestation (18% compared with 31% for recent preterm PROM; odds ratio [OR] 1.79; confidence interval [CI] 1.25-2.56) but increased mortality at 28 to 30 weeks of gestation (4% compared with 3% for recent preterm PROM; OR 0.44; CI 0.22, 0.88) when adjusted for possible confounding factors. Sepsis rates did not differ between those with recent or prolonged preterm PROM at any gestational age.The presence of membrane rupture before delivery was not associated with increased neonatal mortality in any gestational age group. The effects of a prolonged latency period were not consistent across gestational ages.

  View details for DOI 10.1097/AOG.0b013e3181fe3d28

  View details for Web of Science ID 000284491000021

  View details for PubMedID 21099606

• Maternal-fetal and neonatal pharmacogenomics: a review of current literature JOURNAL OF PERINATOLOGY Blumenfeld, Y. J., Reynolds-May, M. F., Altman, R. B., El-Sayed, Y. Y. 2010; 30 (9): 571-579

  Abstract

  Pharmacogenomics, the study of specific genetic variations and their effect on drug response, will likely give rise to many applications in maternal-fetal and neonatal medicine; yet, an understanding of these applications in the field of obstetrics and gynecology and neonatal pediatrics is not widespread. This review describes the underpinnings of the field of pharmacogenomics and summarizes the current pharmacogenomic inquiries in relation to maternal-fetal medicine-including studies on various fetal and neonatal genetic cytochrome P450 (CYP) enzyme variants and their role in drug toxicities (for example, codeine metabolism, sepsis and selective serotonin reuptake inhibitor (SSRI) toxicity). Potential future directions, including alternative drug classification, improvements in drug efficacy and non-invasive pharmacogenomic testing, will also be explored.

  View details for DOI 10.1038/jp.2009.183

  View details for Web of Science ID 000281388500002

  View details for PubMedID 19924131

  View details for PubMedCentralID PMC3098749

• Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing CLINICAL CHEMISTRY Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., Quake, S. R. 2010; 56 (8): 1279-1286

  Abstract

  Noninvasive prenatal diagnosis with cell-free DNA in maternal plasma is challenging because only a small portion of the DNA sample is derived from the fetus. A few previous studies provided size-range estimates of maternal and fetal DNA, but direct measurement of the size distributions is difficult because of the small quantity of cell-free DNA.We used high-throughput paired-end sequencing to directly measure the size distributions of maternal and fetal DNA in cell-free maternal plasma collected from 3 typical diploid and 4 aneuploid male pregnancies. As a control, restriction fragments of lambda DNA were also sequenced.Cell-free DNA had a dominant peak at approximately 162 bp and a minor peak at approximately 340 bp. Chromosome Y sequences were rarely longer than 250 bp but were present in sizes of <150 bp at a larger proportion compared with the rest of the sequences. Selective analysis of the shortest fragments generally increased the fetal DNA fraction but did not necessarily increase the sensitivity of aneuploidy detection, owing to the reduction in the number of DNA molecules being counted. Restriction fragments of lambda DNA with sizes between 60 bp and 120 bp were preferentially sequenced, indicating that the shotgun sequencing work flow introduced a bias toward shorter fragments.Our results confirm that fetal DNA is shorter than maternal DNA. The enrichment of fetal DNA by size selection, however, may not provide a dramatic increase in sensitivity for assays that rely on length measurement in situ because of a trade-off between the fetal DNA fraction and the number of molecules being counted.

  View details for DOI 10.1373/clinchem.2010.144188

  View details for Web of Science ID 000280501400016

  View details for PubMedID 20558635

• Ultrasound estimation of fetal weight in small for gestational age pregnancies JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE Blumenfeld, Y. J., Lee, H. C., Pullen, K. M., Wong, A. E., Pettit, K., Taslimi, M. M. 2010; 23 (8): 790-793

  Abstract

  Approximately half of small for gestational age (SGA) cases are due to maternal or fetal pathology, and may result in significant neonatal morbidity and mortality. The estimated fetal weight (EFW) measurement is the cornerstone of ultrasonographic findings when diagnosing and managing SGA pregnancies. Our objective was to determine the ultrasound accuracy of EFW in SGA pregnancies.A retrospective chart review was performed of all pregnancies complicated by SGA from a single institution (Stanford University) over a 2-year-period (2004-2006). SGA was defined as EFW < or = 10%. 98 neonates whose last ultrasound for EFW occurred within 7 days of delivery were included in the study. The absolute differences between the EFW and birthweight (BW) were analyzed, and the absolute percent errors were calculated as (EFW - BW)/BW x 100. The mean absolute differences and mean absolute percent errors were analyzed across all gestational ages (GA) and EFWs using one-way analysis of variance.The mean absolute percent error for the entire cohort was 8.7% (+/-6.3%). There was no statistically significant difference in the mean absolute percent error across all GAs (<32 weeks, 32-36 weeks, >36 weeks), and EFWs (<1500 g, 1500-2000 g, >2000 g).Ultrasound measurement of EFW in SGA pregnancies is consistent across all GAs and EFW measurements.

  View details for DOI 10.3109/14767050903387052

  View details for Web of Science ID 000280592200006

  View details for PubMedID 19968588

• Single- versus double-layer hysterotomy closure at primary caesarean delivery and bladder adhesions BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY Blumenfeld, Y. J., Caughey, A. B., El-Sayed, Y. Y., Daniels, K., Lyell, D. J. 2010; 117 (6): 690-694

  Abstract

  To determine the association between single-layer (one running suture) and double-layer (second layer or imbricating suture) hysterotomy closure at primary caesarean delivery and subsequent adhesion formation.A secondary analysis from a prospective cohort study of women undergoing first repeat caesarean section.Department of Obstetrics and Gynecology, Stanford University, Stanford, CA, USA.One hundred and twenty-seven pregnant women undergoing first repeat caesarean section.Patient records were reviewed to identify whether primary caesarean hysterotomies were closed with a single or double layer. Data were analysed by Fisher's exact tests and multivariable logistic regression.Prevalence rate of pelvic and abdominal adhesions.Of the 127 women, primary hysterotomy closure was single layer in 56 and double layer in 71. Single-layer hysterotomy closure was associated with bladder adhesions at the time of repeat caesarean (24% versus 7%, P = 0.01). Single-layer closure was associated in this study with a seven-fold increase in the odds of developing bladder adhesions (odds ratio, 6.96; 95% confidence interval, 1.72-28.1), regardless of other surgical techniques, previous labour, infection and age over 35 years. There was no association between single-layer closure and other pelvic or abdominal adhesions.Primary single-layer hysterotomy closure may be associated with more frequent bladder adhesions during repeat caesarean deliveries. The severity and clinical implications of these adhesions should be assessed in large prospective trials.

  View details for DOI 10.1111/j.1471-0528.2010.02529.x

  View details for Web of Science ID 000276509100007

  View details for PubMedID 20236104

• The Effects of Respiratory Failure on Delivery in Pregnant Patients With H1N1 2009 Influenza OBSTETRICS AND GYNECOLOGY Jafari, A., Langen, E. S., Aziz, N., Blumenfeld, Y. J., Mihm, F., Druzin, M. L. 2010; 115 (5): 1033-1035

  Abstract

  The majority of hospitalizations for H1N1 complications have been in people with high-risk comorbidities, including pregnancy. Here we describe the obstetric and critical care treatment of three patients with confirmed H1N1 influenza virus infection complicated by acute respiratory failure.We describe the clinical and therapeutic courses of three patients with confirmed H1N1 2009 influenza virus infection complicating singleton, twin, and triplet gestations, each of which were complicated by respiratory failure.These three cases illustrate that a high index of suspicion, prompt treatment, timing and mode of delivery considerations, and interdisciplinary treatment are integral to the care of pregnant patients with H1N1 influenza infections complicated by acute respiratory failure.

  View details for DOI 10.1097/AOG.0b013e3181da85fc

  View details for Web of Science ID 000277185800022

  View details for PubMedID 20410779

• Chorionic villus sampling: technique and training CURRENT OPINION IN OBSTETRICS & GYNECOLOGY Blumenfeld, Y. J., Chueh, J. 2010; 22 (2): 146-151

  Abstract

  Over the past decade, first trimester screening has become the gold standard prenatal screening modality in the developed world. This shift toward earlier screening would not be possible without the availability of early diagnosis, namely, chorionic villus sampling (CVS). The purpose of this review is to highlight recent updates related to CVS technique, potential complications, and training.Recent data highlight the importance of operator experience in reducing CVS-related complications and argues for the 'centralization' of CVS in experienced centers. On the other hand, despite over 30 years of clinical practice, there is still no consensus regarding optimal CVS technique and some variation exists between CVS providers. Moreover, there is a deficiency in adequate infrastructure geared toward the training and certification of future CVS providers.CVS is the gold standard method of first trimester prenatal diagnosis. Recent data suggest that CVS loss rates are lower than what was previously reported and are lowest in centers that perform a large number of procedures. The 'centralization' of this specialized procedure also offers the perfect opportunity for the safe, ongoing training of future CVS providers.

  View details for DOI 10.1097/GCO.0b013e3283372365

  View details for Web of Science ID 000276562900010

  View details for PubMedID 20154617

• Comprehensive maternal-fetal pharmacogenomics - a novel pharmacogenomic thumbprint 30th Annual Clinical Meeting of the Society-for-Maternal-Fetal-Medicine Blumenfeld, Y., Fan, C., Sangkuhl, K., Altman, R., El-Sayed, Y., Quake, S. MOSBY-ELSEVIER. 2009: S254–S254

  View details for Web of Science ID 000279559500695

• First trimester screening versus diagnostic testing; how important is prenatal counseling in the decision-making process? 30th Annual Clinical Meeting of the Society-for-Maternal-Fetal-Medicine Wong, A., Blumenfeld, Y., Lyell, D., Ormond, K., Chueh, J. MOSBY-ELSEVIER. 2009: S253–S253

  View details for Web of Science ID 000279559500692

• The effect of ruptured membranes on early neonatal sepsis 30th Annual Clinical Meeting of the Society-for-Maternal-Fetal-Medicine Blumenfeld, Y., Lee, H., Gould, J., Greenberg, M., Sung, J., El-Sayed, Y. MOSBY-ELSEVIER. 2009: S168–S168

  View details for Web of Science ID 000279559500437

• Do ruptured membranes remote from term affect neonatal mortality? 30th Annual Clinical Meeting of the Society-for-Maternal-Fetal-Medicine Blumenfeld, Y., Lee, H., Gould, J., Langen, E., Jafari, A., El-Sayed, Y. MOSBY-ELSEVIER. 2009: S167–S168

  View details for Web of Science ID 000279559500436

• Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy 29th Annual Meeting of the Society-for-Maternal-Fetal-Medicine Fan, H. C., Blumenfeld, Y. J., El-Sayed, Y. Y., Chueh, J., Quake, S. R. MOSBY-ELSEVIER. 2009

  Abstract

  The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy.Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three thousand and sixty PCR reactions were performed for each of the target chromosomes (X, Y, 13, 18, and 21), and the number of single molecule amplifications was compared to a reference. The difference between target and reference chromosome counts was used to determine the ploidy of each of the target chromosomes.Digital PCR accurately identified all cases of fetal trisomy (3 cases of trisomy 21, 3 cases of trisomy 18, and 2 cases of triosmy 13) in the 40 specimens analyzed. The remaining specimens were determined to have normal ploidy for the chromosomes tested.Microfluidic digital PCR allows detection of fetal chromosomal aneuploidy utilizing uncultured amniocytes and chorionic villus tissue in less than 6 hours.

  View details for DOI 10.1016/j.ajog.2009.03.002

  View details for Web of Science ID 000265253800029

  View details for PubMedID 19375573

• Prematurity prevention: the role of acute tocolysis CURRENT OPINION IN OBSTETRICS & GYNECOLOGY Blumenfeld, Y. J., Lyell, D. J. 2009; 21 (2): 136-141

  Abstract

  The preterm birth rate in the United States remains at an all-time high and continues to rise. Acute tocolysis has potential to delay preterm birth for 48 h, the critical period of antenatal steroid administration, or to arrest an episode of preterm labor, thus delaying birth and improving neonatal outcomes. It is therefore paramount that medical providers remain up-to-date regarding the usefulness, indications and contraindications, and side-effects and adverse effects of all tocolytics.Magnesium sulfate remains the most common tocolyic agent in the United States. Recent evidence comparing oral nifedipine with magnesium sulfate suggests equal efficacy with fewer maternal side-effects, thus supporting this oral medication as first-line treatment. This review will summarize the most common acute tocolytic drugs, their methods of action, and clinical data regarding their utility.All tocolytic medications have side-effects, some of them potentially life-threatening. Decisions regarding whether to use a tocolytic and which tocolytic to use require the diagnosis of preterm labor, knowledge of the patient's gestational age, medical conditions, and cost. Once tocolysis is initiated, attention must be paid to the patient's response, side-effects, and adverse events. Larger studies are needed which incorporate, in addition to efficacy, data on safety and side-effect profiles and cost.

  View details for DOI 10.1097/GCO.0b013e3283292455

  View details for Web of Science ID 000265320800006

  View details for PubMedID 19996866

• DIGITAL PCR ENABLES RAPID PRENATAL DIAGNOSIS OF FETAL ANEUPLOIDY 29th Annual Meeting of the Society-for-Maternal-Fetal-Medicine Fan, C., Blumenfeld, Y., Chueh, J., El-Sayed, Y., Quake, S. MOSBY-ELSEVIER. 2008: S30–S30

  View details for DOI 10.1016/j.ajog.2008.09.089

  View details for Web of Science ID 000262205700066

• Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., Quake, S. R. 2008; 105 (42): 16266-16271

  Abstract

  We directly sequenced cell-free DNA with high-throughput shotgun sequencing technology from plasma of pregnant women, obtaining, on average, 5 million sequence tags per patient sample. This enabled us to measure the over- and underrepresentation of chromosomes from an aneuploid fetus. The sequencing approach is polymorphism-independent and therefore universally applicable for the noninvasive detection of fetal aneuploidy. Using this method, we successfully identified all nine cases of trisomy 21 (Down syndrome), two cases of trisomy 18 (Edward syndrome), and one case of trisomy 13 (Patau syndrome) in a cohort of 18 normal and aneuploid pregnancies; trisomy was detected at gestational ages as early as the 14th week. Direct sequencing also allowed us to study the characteristics of cell-free plasma DNA, and we found evidence that this DNA is enriched for sequences from nucleosomes.

  View details for DOI 10.1073/pnas.0808319105

  View details for Web of Science ID 000260597400037

  View details for PubMedID 18838674

• Uterine exteriorization compared with in situ repair at cesarean delivery: A randomized controlled trial OBSTETRICS AND GYNECOLOGY Blumenfeld, Y., Caughey, A. B., Lyell, D. J. 2008; 112 (1): 183-183

  View details for Web of Science ID 000257279600027

  View details for PubMedID 18591325

• Single- versus double-layer uterine incision closure and uterine rupture JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE Gyamfi, C., Juhasz, G., Gyamfi, P., Blumenfeld, Y., Stone, J. L. 2006; 19 (10): 639-643

  Abstract

  To evaluate whether closure of the uterine incision with one or two layers changes uterine rupture or vaginal birth after cesarean section (VBAC) success rates.Subjects with one previous cesarean section by documented transverse uterine incision that attempted VBAC were identified. Exclusion criteria included lack of documentation of the type of closure of the previous uterine incision, multiple gestation, more than one previous cesarean section, and previous scar other than low transverse. Uterine rupture and VBAC success rates were compared between those with single-layer and double-layer uterine closure. Time interval between deliveries, birth weight, body mass index (BMI), and history of previous VBAC were evaluated as possible confounders.Of 948 subjects identified, 913 had double-layer closure and 35 had single-layer closure. The uterine rupture rate was significantly higher in the single-layer closure group (8.6% vs. 1.3%, p = 0.015). This finding persisted when controlling for previous VBAC, induction, birth weight >4000 g, delivery interval >19 months, and BMI >29 (OR 8.01, 95% CI 1.96-32.79). There was no difference in VBAC success rate (74.3% vs. 77%, p = 0.685).Single-layer uterine closure may be more likely to result in uterine rupture.

  View details for DOI 10.1080/14767050600849383

  View details for Web of Science ID 000242992000007

  View details for PubMedID 17118738

• Single-versus double-layer uterine incision closure and uterine rupture 25th Annual Meeting of the Society-for-Maternal-Fetal-Medicine Gyamfi, C., Juhasz, G., Gyamfi, P., Rochon, M., Blumenfeld, Y., Stone, J. MOSBY-ELSEVIER. 2004: S183–S183

  View details for Web of Science ID 000225925500650

• Fetal urinoma as a sign of a dysplastic kidney PEDIATRIC NEPHROLOGY Miller, M., Korzets, Z., Blumenfeld, Y., Pomeranz, M., Aviram, R., Rathaus, V., Pomeranz, A. 2003; 18 (1): 65-67

  Abstract

  We describe a female neonate in whom a urinoma was first diagnosed at 20 weeks of gestation without any evidence of underlying urinary tract obstruction. The urinoma became apparent following the performance of a "bloody tap" amniocentesis. Sequential ultrasonography, both fetal and up to 3 months after birth, showed eventual resorption of the urinoma in parallel with the development of a shrunken, non-functioning kidney. Except for the onset of high-renin hypertension, which spontaneously remitted at 1 year of age, the baby's postnatal course was uneventful. Renal function was normal. The presence of a fetal urinoma as a sign of a dysplastic kidney is discussed.

  View details for DOI 10.1007/s00467-002-0862-x

  View details for Web of Science ID 000180591500014

  View details for PubMedID 12488994