Gary M Shaw

Stanford University, Palo Alto, California, United States

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Publications (367)1300.35 Total impact

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    ABSTRACT: Gastroschisis is a birth defect where loops of bowel are protruding from the abdominal wall at birth. Previous research has suggested that gastroschisis cases can occur in clusters. The objective of this study was to identify if there were areas of elevated gastroschisis risk using data from the National Birth Defects Prevention Study (NBDPS), 1997 through 2007. We obtained data on cases (n = 371) through population-based birth defects surveillance systems in Arkansas, California, and Utah; controls (n = 2359) were selected from the same geographic areas as cases. Mothers were interviewed on demographic information and exposures during pregnancy, including residential history. We used first trimester maternal addresses and generalized additive models to create a continuous map surface of odds ratios (OR) by smoothing over latitude and longitude. Permutation tests were used to assess whether location of maternal residence was important and identify locations with statistically significant ORs. In Arkansas, adjusted ORs in the southwest corner were 2.0 and the global deviance was not statistically significant (p-value: 0.57). Adjusted ORs for California indicated areas of increased risk with ORs 1.3 (p-value: 0.34). In Utah, the adjusted ORs were elevated (OR: 2.4) in the south-eastern corner of the study area (p-value: 0.34). The results of this study, while not statistically significant, suggest there were spatial variations in gastroschisis births. We cannot rule out that these variations were due to edge effects or residual confounding. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    Birth Defects Research Part A Clinical and Molecular Teratology 04/2015; DOI:10.1002/bdra.23375 · 2.21 Impact Factor
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    ABSTRACT: Right-sided and left-sided obstructive heart defects (OHDs) are subtypes of congenital heart defects, in which the heart valves, arteries, or veins are abnormally narrow or blocked. Previous studies have suggested that the development of OHDs involved a complex interplay between genetic variants and maternal factors. Using the data from 569 OHD case families and 1,644 control families enrolled in the National Birth Defects Prevention Study (NBDPS) between 1997 and 2008, we conducted an analysis to investigate the genetic effects of 877 single nucleotide polymorphisms (SNPs) in 60 candidate genes for association with the risk of OHDs, and their interactions with maternal use of folic acid supplements, and pre-pregnancy obesity. Applying log-linear models based on the hybrid design, we identified a SNP in methylenetetrahydrofolate reductase (MTHFR) gene (C677T polymorphism) with a main genetic effect on the occurrence of OHDs. In addition, multiple SNPs in betaine-homocysteine methyltransferase (BHMT and BHMT2) were also identified to be associated with the occurrence of OHDs through significant main infant genetic effects and interaction effects with maternal use of folic acid supplements. We also identified multiple SNPs in glutamate-cysteine ligase, catalytic subunit (GCLC) and DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B) that were associated with elevated risk of OHDs among obese women. Our findings suggested that the risk of OHDs was closely related to a combined effect of variations in genes in the folate, homocysteine, or glutathione/transsulfuration pathways, maternal use of folic acid supplements and pre-pregnancy obesity. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 04/2015; DOI:10.1002/ajmg.a.36867 · 2.05 Impact Factor
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    ABSTRACT: Despite years of research, the etiologies of preterm birth remain unclear. In order to help generate new research hypotheses, this study explored spatial and temporal patterns of preterm birth in a large, total-population dataset. Data on 145 million U.S. births in 3,000 counties from the Natality Files of the National Center for Health Statistics for 1971-2011 were examined. State trends in early (<34 weeks) and late (34-36 weeks) preterm birth rates were compared. K-means cluster analyses were conducted to identify gestational age distribution patterns for all US counties over time. A weak association was observed between state trends in <34 weeks birth rates and the initial absolute <34 weeks birth rate. Significant associations were observed between trends in <34 weeks and 34-36 weeks birth rates and between white and African American <34 weeks births. Periodicity was observed in county-level trends in <34 weeks birth rates. Cluster analyses identified periods of significant heterogeneity and homogeneity in gestational age distributional trends for U.S. counties. The observed geographic and temporal patterns suggest periodicity and complex, shared influences among preterm birth rates in the United States. These patterns could provide insight into promising hypotheses for further research.Pediatric Research (2015); doi:10.1038/pr.2015.55.
    Pediatric Research 03/2015; DOI:10.1038/pr.2015.55 · 2.84 Impact Factor
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    ABSTRACT: First, create a clinical severity score for patients with chronic lung disease of infancy (CLDi) following neonatal intensive care unit (NICU) stay. Second, using California wide population-based data, identify factors associated with clinical severity of CLDi at 4-9 months corrected gestational age (CGA). Pediatric pulmonologists ranked and weighted eight factors reflecting clinical severity of CLDi. Utilizing these data we scored and assigned these to 4-9 month old CGA moderate/severe bronchopulmonary dysplasia (BPD) infants, born<30 weeks gestational age (GA), within the California High Risk Infant Follow up (HRIF) program. Infants were studied relative to factors from the California Perinatal Quality Care Collaborative (CPQCC). We received survey responses from 43/88 pediatric pulmonologists from 28/53 North American training centers who are experts in CLDi. Strong agreement between ranking (72-100%) of respiratory system parameters and weighting (out of 100 points weighting was within 20 points) was observed with severity of CLDi. Data from 940 CLDi premature infants <30 weeks GA were obtained. Infants with severe CLDi scores at 4-9 months CGA (relative to a zero score) showed positive associations with being male, odds ratio[OR] = 2.45[confidence interval (CI) 1.26-4.77]), >30 ventilator days, OR = 3.82 (1.30-11.2), postnatal steroids OR = 3.94 (1.94-7.84), and a surprising inverse association with retinopathy of prematurity stage 3-4, OR = 0.24 (0.09-0.67) CONCLUSIONS: The CLDi clinical severity score allowed for standardized assessment of pulmonary morbidity, and evaluation of risk factors in the NICU for CLDi following NICU discharge. These observations point to risk factors associated with CLDi outcomes at 4-9 months CGA. Pediatr Pulmonol. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    Pediatric Pulmonology 02/2015; DOI:10.1002/ppul.23148 · 2.30 Impact Factor
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    ABSTRACT: Bronchopulmonary dysplasia (BPD) remains a serious morbidity in very low-birth-weight (VLBW) infants (<1500 g). Deregionalization of neonatal care has resulted in an increasing number of VLBW infants treated in community hospitals with unknown impact on the development of BPD. To identify individual risk factors for BPD development and hospital variation of BPD rates across all levels of neonatal intensive care units (NICUs) within the California Perinatal Quality Care Collaborative. Retrospective cohort study (January 2007 to December 2011) from the California Perinatal Quality Care Collaborative including more than 90% of California's NICUs. Eligible VLBW infants born between 22 to 29 weeks' gestational age. Varying levels of intensive care. Bronchopulmonary dysplasia was defined as continuous supplemental oxygen use at 36 weeks' postmenstrual age. A combined outcome of BPD or mortality prior to 36 weeks was used. Multivariable logistic regression accounting for hospital as a random effect and gestational age as a risk factor was used to assess individual risk factors for BPD. This model was applied to determine risk-adjusted rates of BPD across hospitals and assess associations between levels of care and BPD rates. The study cohort included 15 779 infants, of which 1534 infants died prior to 36 weeks' postmenstrual age. A total of 7081 infants, or 44.8%, met the primary outcome of BPD or death prior to 36 weeks. Combined BPD or death rates across 116 NICUs varied from 17.7% to 73.4% (interquartile range, 38.7%-54.1%). Compared with level IV NICUs, the risk for developing BPD was higher for level II NICUs (odds ratio, 1.23; 95% CI, 1.02-1.49) and similar for level III NICUs (odds ratio, 1.04; 95% CI, 0.95-1.14). Bronchopulmonary dysplasia or death prior to 36 weeks' postmenstrual age affects approximately 45% of VLBW infants across California. The wide variability in BPD occurrence across hospitals could offer insights into potential risk or preventive factors. Additionally, our findings suggest that increased regionalization of NICU care may reduce BPD among VLBW infants.
    JAMA Pediatrics 02/2015; 169(2):e143676. DOI:10.1001/jamapediatrics.2014.3676 · 4.25 Impact Factor
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    ABSTRACT: Approximately 6.3 million live births and fetal deaths occurred during the ascertainment period in the California Birth Defects Monitoring Program registry. American-Indian and non-Hispanic white women delivered 40,268 and 2,044,118 births, respectively. While much information has been published about non-Hispanic white infants, little is known regarding the risks of birth defects among infants born to American-Indian women. This study used data from the California Birth Defects Monitoring Program to explore risks of selected birth defects in offspring of American-Indian relative to non-Hispanic white women in California. The study population included all live births and fetal deaths 20 weeks or greater from 1983 to 2010. Prevalence ratios and corresponding 95% confidence intervals (CI) were computed using Poisson regression for 51 groupings of birth defects. Prevalence ratios were estimated for 51 groupings of birth defects. Of the 51, nine had statistically precise results ranging from 0.78 to 1.85. The eight groups with elevated risks for American-Indian births were reduction deformities of brain, anomalies of anterior segments, specified anomalies of ear, ostium secundum type atrial septal defect, specified anomalies of heart, anomalies of the aorta, anomalies of great veins, and cleft lip with cleft palate. Our results suggest that American-Indian women having babies in California may be at higher risk for eight birth defect phenotypes compared with non-Hispanic whites. Further research is needed to determine whether these risks are observed among other populations of American-Indian women or when adjusted for potential covariates. Birth Defects Research (Part A) 103:105-110, 2015 © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    Birth Defects Research Part A Clinical and Molecular Teratology 02/2015; 103(2):105-10. DOI:10.1002/bdra.23341 · 2.21 Impact Factor
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    ABSTRACT: Objective This study aims to evaluate the relationship between early-onset severe preeclampsia and first trimester serum levels of pregnancy-associated plasma protein A (PAPP-A) and total human chorionic gonadotropin (hCG). Study Design The association between early-onset severe preeclampsia and abnormal levels of first trimester PAPP-A and total hCG in maternal serum were measured in a sample of singleton pregnancies without chromosomal defects that had integrated prenatal serum screening in 2009 and 2010 (n = 129,488). Logistic binomial regression was used to estimate the relative risk (RR) of early-onset severe preeclampsia in pregnancies with abnormal levels of first trimester PAPP-A or total hCG as compared with controls. Results Regardless of parity, women with low first trimester PAPP-A or high total hCG were at increased risk for early-onset severe preeclampsia. Women with low PAPP-A (multiple of the median [MoM] ≤ the 10th percentile in nulliparous or ≤ the 5th percentile in multiparous) or high total hCG (MoM ≥ the 90th percentile in nulliparous or ≥ the 95th percentile in multiparous) were at more than a threefold increased risk for early-onset severe preeclampsia (RR, 4.2; 95% confidence interval [CI], 3.0-5.9 and RR, 3.3; 95% CI, 2.1-5.2, respectively). Conclusion Routinely collected first trimester measurements of PAPP-A and total hCG provide unique risk information for early-onset severe preeclampsia. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
    American Journal of Perinatology 12/2014; DOI:10.1055/s-0034-1396697 · 1.60 Impact Factor
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    ABSTRACT: Several single nucleotide variants (SNVs) in low-density lipoprotein receptor-related protein 6 (Lrp6) cause neural tube defects (NTDs) in mice. We therefore examined LRP6 in 192 unrelated infants from California with the NTD, spina bifida, and found four heterozygous missense SNVs, three of which were predicted to be deleterious, among NTD cases and not in 190 ethnically matched non-malformed controls. Parents and siblings could not be tested because of the study design. Like Cd and rs mouse variants, the p.Tyr544Cys Lrp6 protein failed to bind the chaperone protein MESD and impaired Lrp6 subcellular localization to the plasma membrane of MDCK II cells. Only the p.Tyr544Cys Lrp6 variant down-regulated canonical Wnt signaling in a TopFlash luciferase reporter in vitro assay. In contrast, three Lrp6 mutants (p.Ala3Val, p.Tyr544Cys and p.Arg1574Leu) increased non-canonical Wnt/PCP signaling in an Ap1-luciferase assay. Thus, LRP6 variants outside of YWTD-repeats could potentially predispose embryos to NTDs, while Lrp6 modulation of Wnt/PCP signaling would be more essential than its canonical pathway role in neural tube closure.This article is protected by copyright. All rights reserved
    Human Mutation 12/2014; 36(3). DOI:10.1002/humu.22750 · 5.05 Impact Factor
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    ABSTRACT: Estrogenic endocrine disruptors acting via estrogen receptors α (ESR1) and β (ESR2) have been implicated in the etiology of hypospadias, a common congenital malformation of male external genitalia. Our objective was to determine the association of single nucleotide polymorphisms (SNPs) in ESR1 and ESR2 genes with hypospadias in a racially-ethnically diverse study population of California births. We investigated the relationship between hypospadias and 108 ESR1 and 36 ESR2 SNPs in 647 cases and 877 population-based non-malformed controls among infants born in selected California counties from 1990-2003. Subgroup analyses were performed by race/ethnicity (non-Hispanic whites, Hispanics) and by hypospadias severity (mild-moderate, severe). The odds ratios (OR) for 33 of the 108 ESR1 SNPs had p-values <0.05 (p-values: 0.05-0.007) for risk of hypospadias. However, none of the 36 ESR2 SNPs was significantly associated. In stratified analyses, the association results were consistent by disease severity, but different sets of SNPs were significantly associated with hypospadias in non-Hispanic whites and Hispanics. Due to high linkage disequilibrium across the SNPs, haplotype analyses were conducted and identified six haplotype blocks in ESR1 gene that had haplotypes significantly associated with increased risk of hypospadias (ORs: 1.3-1.8, p-values = 0.04-0.00001). Similar to SNP analysis, different ESR1 haplotypes were associated with risk for hypospadias in non-Hispanic whites and Hispanics. No significant haplotype association was observed for ESR2. The study provides evidence that ESR1 SNPs and haplotypes influence the risk of hypospadias in both whites and Hispanics and warrant further examination in other study populations. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.
    The Journal of Urology 11/2014; DOI:10.1016/j.juro.2014.11.087 · 3.75 Impact Factor
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    ABSTRACT: Gastroschisis is unique because of its substantial risk in pregnancies of adolescent women. Adolescents may have poor diet quality, which places them at higher risk of gastroschisis.
    Journal of Nutrition 11/2014; 144(11):1781-6. DOI:10.3945/jn.114.201376 · 4.23 Impact Factor
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    ABSTRACT: Background: Adverse associations between maternal pesticide exposure and neural tube defects (NTDs) have been suggested but not consistently observed. This study used data from the multisite National Birth Defects Prevention Study to examine associations between maternal periconceptional (1 month preconception through 2 months postconception) occupational pesticide exposure and NTDs. Methods: Mothers of 502 NTD cases and 2950 unaffected live-born control infants with estimated delivery dates from 1997 through 2002 were included. Duration, categorical intensity scores, and categorical frequency scores for pesticide classes (e.g., insecticides) were assigned using a modified, literature-based job-exposure matrix and maternal-reported occupational histories. Adjusted odds ratios (aORs) and 95% confidence intervals were estimated based on fitted multivariable logistic regression models that described associations between maternal periconceptional occupational pesticide exposure and NTDs. The aORs were estimated for pesticide exposure (any [yes/no] and cumulative exposure [intensity × frequency × duration] to any pesticide class, each pesticide class, or combination of pesticide classes) and all NTD cases combined and NTD subtypes. Results: Positive, but marginally significant or nonsignificant, aORs were observed for exposure to insecticides + herbicides for all NTD cases combined and for spina bifida alone. Similarly, positive aORs were observed for any exposure and cumulative exposure to insecticides + herbicides + fungicides and anencephaly alone and encephalocele alone. All other aORs were near unity. Conclusion: Pesticide exposure associations varied by NTD subtype and pesticide class. Several aORs were increased, but not significantly. Future work should continue to examine associations between pesticide classes and NTD subtypes using a detailed occupational pesticide exposure assessment and examine pesticide exposures outside the workplace. Birth Defects Research (Part A), 2014. © 2014 Wiley Periodicals, Inc.
    Birth Defects Research Part A Clinical and Molecular Teratology 11/2014; 100(11). DOI:10.1002/bdra.23293 · 2.21 Impact Factor
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    ABSTRACT: Background It has been observed in several studies that infants with anotia/microtia are more common among Hispanics compared with other racial/ethnic groups. We examined the association between selected Hispanic ethnicity and acculturation factors and anotia/microtia in the National Birth Defects Prevention Study.Methods We examined data from mothers of 351 infants with isolated anotia/microtia and 8435 unaffected infants from the National Birth Defects Prevention Study with an expected delivery date from 1997 to 2007. Sociodemographic, maternal, and acculturation factors (e.g., age, maternal education, household income, body mass index, gestational diabetes, folic acid, smoking, alcohol intake, study center, parental birthplace, and years lived in the United States, maternal language) were assessed as overall risk factors and also as risk factors among subgroups of Hispanics (United States- and foreign-born) versus non-Hispanic whites.ResultsCompared with non-Hispanic whites, both United States- and foreign-born Hispanic mothers demonstrated substantially higher odds of delivering infants with anotia/microtia across nearly all strata of sociodemographic and other maternal factors (adjusted odds ratios range: 2.1–11.9). The odds of anotia/microtia was particularly elevated among Hispanic mothers who emigrated from Mexico after age five (adjusted odds ratios = 4.88; 95% confidence interval = 2.93–8.11) or who conducted the interview in Spanish (adjusted odds ratios = 4.97; 95% confidence interval = 3.00–8.24).Conclusion We observed that certain sociodemographic and acculturation factors are associated with higher risks of anotia/microtia among offspring of Hispanic mothers. Birth Defects Research (Part A), 2014. © 2014 Wiley Periodicals, Inc.
    Birth Defects Research Part A Clinical and Molecular Teratology 11/2014; 100(11). DOI:10.1002/bdra.23282 · 2.21 Impact Factor
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    ABSTRACT: The purpose of this study was to compare the performance of first-trimester nuchal translucency (NT) cutoff of ≥3.5 mm with NT percentiles that were calculated for crown-rump length to identify fetuses with critical congenital heart defects (CCHDs). This was a population-level study of singleton pregnancies in California with NT measurements performed between 11 and 14 weeks of gestation. Eligible cases were those that resulted in live births from 2009-2010 and had information about the presence or absence of CCHDs available in the hospital discharge records through age 1 year (n = 76,089). Logistic binomial regression methods were used to compare the rate of CCHDs by an NT percentile for crown-rump length and millimeter cutpoints. Compared with fetuses with an NT measurement of <90th percentile, fetuses with an NT of ≥99th percentile were >5 times as likely to have a CCHD (1.3% vs 0.2%; relative risk, 5.66; 95% confidence interval, 3.19-10.04) and fetuses with an NT measurement ≥3.5 mm were >12 times as likely to have a CCHD (2.8% vs 0.2%; relative risk, 12.28; 95% confidence interval, 5.11-29.51). NT ≥99th percentile had a sensitivity of 5.8% and a specificity of 98.9% for the detection of CCHDs compared with 2.6% and 99.8% for NT ≥3.5 mm. Results show that NT measurements of ≥99th percentile and ≥3.5 mm are not equivalent and that substantial risk for CCHD extends to the less restrictive ≥99th percentile cutpoint. Data suggest that the use of this cutpoint compared with the current standard could double the number of CCHDs that are identified based on NT risk. Copyright © 2014 Elsevier Inc. All rights reserved.
    American Journal of Obstetrics and Gynecology 10/2014; DOI:10.1016/j.ajog.2014.10.1102 · 3.97 Impact Factor
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    ABSTRACT: To evaluate associations between traffic-related air pollution during pregnancy and preterm birth in births in four counties in California during years 2000 to 2006. We used logistic regression to examine the association between the highest quartile of ambient air pollutants (carbon monoxide, nitrogen dioxide, particulate matter <10 and 2.5 μm) and traffic density during pregnancy and each of five levels of prematurity based on gestational age at birth (20-23, 24-27, 28-31, 32-33, and 34-36 weeks) versus term (37-42 weeks). We examined trimester averages and the last month and the last 6 weeks of pregnancy. Models were adjusted for birthweight, maternal age, race/ethnicity, education, prenatal care, and birth costs payment. Neighborhood socioeconomic status (SES) was evaluated as a potential effect modifier. There were increased odds ratios (ORs) for early preterm birth for those exposed to the highest quartile of each pollutant during the second trimester and the end of pregnancy (adjusted OR, 1.4-2.8). Associations were stronger among mothers living in low SES neighborhoods (adjusted OR, 2.1-4.3). We observed exposure-response associations for multiple pollutant exposures and early preterm birth. Inverse associations during the first trimester were observed. The results confirm associations between traffic-related air pollution and prematurity, particularly among very early preterm births and low SES neighborhoods. Copyright © 2014 Elsevier Inc. All rights reserved.
    Annals of Epidemiology 10/2014; 24(12):888-895.e4. DOI:10.1016/j.annepidem.2014.10.004 · 2.15 Impact Factor
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    ABSTRACT: Preterm birth is an important marker of health and has a prevalence of 12-13% in the U.S. Polycyclic aromatic hydrocarbons (PAHs) are a group of organic contaminants that form during the incomplete combustion of hydrocarbons, such as coal, diesel and gasoline. Studies suggest that exposure to PAHs during pregnancy is related to adverse birth outcomes. The aim of this study is to evaluate the association between exposure to PAHs during the pregnancy and preterm birth.
    Environmental Research 10/2014; 135C:221-226. DOI:10.1016/j.envres.2014.09.014 · 3.95 Impact Factor
  • American Journal of Medical Genetics Part A 10/2014; 164(10). DOI:10.1002/ajmg.a.36659 · 2.05 Impact Factor
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    ABSTRACT: Pesticide exposures are ubiquitous and of substantial public concern. We examined the potential association of congenital heart defects with residential proximity to commercial agricultural pesticide applications in the San Joaquin Valley, California.
    Environmental Research 09/2014; 135C:133-138. DOI:10.1016/j.envres.2014.08.030 · 3.95 Impact Factor
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    ABSTRACT: Background: Prevalence of gastroschisis has inexplicably been increasing over the past few decades. Our intent was to explore whether early gestational exposures to pesticides were associated with risk of gastroschisis. Methods: We used population-based data, accompanied by detailed information from maternal interviews as well as information on residential proximity to a large number of commercial pesticide applications during early pregnancy. The study population derived from the San Joaquin Valley of California (). Cases were 156 infants/fetuses with gastroschisis and controls were 785 infants without birth defects. Results: Among 22 chemical pesticide groups analyzed, none had an elevated odds ratio with an associated confidence interval that excluded 1.0, although exposure to the triazine group showed borderline significance. Among 36 specific pesticide chemicals analyzed, only exposure to petroleum distillates was associated with an elevated risk, odds ratio = 2.5 (1.1-5.6). In general, a substantially different inference was not derived when analyses were stratified by maternal age or when risk estimation included adjustment for race/ethnicity, body mass index, folic acid supplement use, and smoking. Conclusion: Our study rigorously adds to the scant literature on this topic. Our a priori expectation was that we would observe certain pesticide compounds to be particularly associated with young age owing to the disproportionate risk observed for young women to have offspring with gastroschisis. We did not observe an exposure profile unique to young women. Birth Defects Research (Part A), 2014. © 2014 Wiley Periodicals, Inc.
    Birth Defects Research Part A Clinical and Molecular Teratology 09/2014; 100(9). DOI:10.1002/bdra.23263 · 2.21 Impact Factor
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    ABSTRACT: Objective To examine the association between placental abruption, maternal characteristics, and routine first and second trimester aneuploidy screening analytes. Study Design Analysis of 1,017 women with and 136,898 women without placental abruption who had first and second trimester prenatal screening results, linked birth certificate, and hospital discharge records for a live born singleton. Maternal characteristics and first and second trimester aneuploidy screening analytes were analyzed using logistic binomial regression. Results Placental abruption was more frequent among women of Asian race, age > 34 years, women with chronic and pregnancy-associated hypertension, preeclampsia, preexisting diabetes, previous preterm birth and inter-pregnancy interval < 6 months. First trimester pregnancy associated plasma protein–A (PAPP-A) ≤ 5th percentile, second trimester alpha fetoprotein (AFP) ≥ 95th percentile, unconjugated estriol (uE3) ≤ 5th percentile, and dimeric inhibin-A (INH) ≥ 95th percentile were associated with placental abruption as well. When logistic models were stratified by the presence or absence of hypertensive disease, only maternal age > 34 years (OR 1.4, 1.0–2.0), PAPP-A ≤5th percentile (OR 1.9, 1.2–3.1), and AFP ≥ 95th percentile (OR 2.3, 1.4–3.8) remained statistically significantly associated for abruption. Conclusion In this large, population based cohort study, abnormal maternal aneuploidy serum analyte levels were associated with placental abruption, regardless of the presence of hypertensive disease.
    American journal of obstetrics and gynecology 08/2014; 211(2). DOI:10.1016/j.ajog.2014.03.027 · 3.97 Impact Factor
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    ABSTRACT: Congenital heart defects are the most common malformation, and are the foremost causes of mortality in the first year of life. Among congenital heart defects, conotruncal defects represent about 20% and are severe malformations with significant morbidity. Insulin gene enhancer protein 1 (ISL1) has been considered a candidate gene for conotruncal heart defects based on its embryonic expression pattern and heart defects induced in Isl1 knockout mice. Nevertheless no mutation of ISL1 has been reported from any human subject with a heart defect. From a population base of 974,579 births during 1999–2004, we used multiplex ligation-dependent probe amplification to screen for microdeletions/duplications of ISL1 among 389 infants with tetralogy of Fallot or d-transposition of the great arteries (d-TGA). We also sequenced all exons of ISL1. We identified a novel 20-kb microdeletion encompassing the entire coding region of ISL1, but not including either flanking gene, from an infant with d-TGA. We confirmed that the deletion was caused by nonhomologous end joining mechanism. Sequencing of exons of ISL1 did not reveal any subject with a novel nonsynonymous mutation. This is the first report of an ISL1 mutation of a child with a congenital heart defect.
    07/2014; 2(4). DOI:10.1002/mgg3.75

Publication Stats

10k Citations
1,300.35 Total Impact Points

Institutions

  • 2009–2015
    • Stanford University
      • Department of Pediatrics
      Palo Alto, California, United States
  • 2009–2014
    • Stanford Medicine
      • • Department of Pediatrics
      • • Division of Neonatal and Developmental Medicine
      • • Pediatric Neurology Clinic
      Stanford, California, United States
  • 2012–2013
    • University of Texas at Austin
      • Division of Nutritional Sciences
      Austin, Texas, United States
  • 1990–2010
    • March of Dimes Foundation
      White Plains, New York, United States
  • 2005–2009
    • Children's Hospital Oakland Research Institute
      Oakland, California, United States
  • 1996–2009
    • University of California, Berkeley
      • School of Public Health
      Berkeley, California, United States
  • 1995–2009
    • Children's Hospital & Research Center Oakland
      Oakland, California, United States
    • Oakland University
      Рочестер, Michigan, United States
  • 2008
    • Texas A&M University System Health Science Center
      • Institute of Biosciences and Technology
      Bryan, TX, United States
  • 2007
    • University of Arkansas at Little Rock
      Little Rock, Arkansas, United States
    • Harbor-UCLA Medical Center
      • Department of Emergency Medicine
      Torrance, CA, United States
  • 2002–2006
    • University of California, Los Angeles
      • • Department of Epidemiology
      • • School of Public Health
      Los Angeles, CA, United States
  • 2004
    • University of Nebraska at Omaha
      Omaha, Nebraska, United States
  • 2003
    • Centers for Disease Control and Prevention
      • National Center on Birth Defects and Developmental Disabilities
      Druid Hills, GA, United States
  • 1999
    • Washington State Department of Health
      Olympia, Washington, United States
    • University of Oklahoma Health Sciences Center
      Oklahoma City, Oklahoma, United States
  • 1996–1999
    • Kaiser Permanente
      Oakland, California, United States
  • 1998
    • Texas A&M University
      College Station, Texas, United States
  • 1993
    • Battelle Memorial Institute
      Columbus, Ohio, United States
  • 1991
    • Berkeley Earth
      Washington, Washington, D.C., United States