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Emerging evidence suggests newborn screening analytes may yield insights into the etiologies of birth defects, yet no effort has evaluated associations between a range of newborn screening analytes and birth defects. This population-based study pooled statewide data on birth defects, birth certificates, and newborn screening analytes from Texas occurring between January 1, 2007 and December 31, 2009. Associations between a panel of thirty-six newborn screening analytes, collected by the statewide Texas Newborn Screening Program, and the presence of a birth defect, defined as at least one of 39 birth defects diagnoses recorded by the Texas Birth Defects Registry, were assessed using regression analysis. Of the 27,643 births identified, 20,205 had at least one of the 39 birth defects of interest (cases) as identified by the Texas Birth Defects Registry, while 7,438 did not have a birth defect (controls). Among 1,404 analyte-birth defect associations evaluated, 377 were significant in replication analysis. Analytes most consistently associated with birth defects included the phenylalanine/tyrosine ratio (N = 29 birth defects), tyrosine (N = 28 birth defects), and thyroxine (N = 25 birth defects). Birth defects most frequently associated with a range of analytes included gastroschisis (N = 29 analytes), several cardiovascular defects (N = 26 analytes), and spina bifida (N = 23 analytes). Several significant and novel associations were observed between newborn screening analytes and birth defects. While some findings could be consequences of the defects themselves or to the care provided to infants with these defects, these findings could help to elucidate mechanisms underlying the etiology of some birth defects.

Objectives To determine the prevalence, patterns, and predictors of alcohol consumption prior to and during various intervals of pregnancy in the U.S. Methods Alcohol-related, pregnancy-related, and demographic data were derived from computer-assisted telephone interviews with 4,088 randomly selected control mothers from the National Birth Defects Prevention Study who delivered live born infants without birth defects during 1997–2002. Alcohol consumption rates and crude and adjusted odds ratios (OR) were calculated. Results 30.3% of all women reported drinking alcohol at some time during pregnancy, of which 8.3% reported binge drinking (4+ drinks on one occasion). Drinking rates declined considerably after the first month of pregnancy, during which 22.5% of women reported drinking, although 2.7% of women reported drinking during all trimesters of pregnancy and 7.9% reported drinking during the 3rd trimester. Pre-pregnancy binge drinking was a strong predictor of both drinking during pregnancy (adjusted OR = 8.52, 95% CI = 6.67–10.88) and binge drinking during pregnancy (adjusted OR = 36.02, 95% CI = 24.63–52.69). Other characteristics associated with both any drinking and binge drinking during pregnancy were non-Hispanic white race/ethnicity, cigarette smoking during pregnancy, and having an unintended pregnancy. Conclusions Our study revealed that drinking during pregnancy is fairly common, three times the levels reported in surveys that ask only about drinking during the month before the survey. Women who binge drink before pregnancy are at particular risk for drinking after becoming pregnant. Sexually active women of childbearing ages who drink alcohol should be advised to use reliable methods to prevent pregnancy, plan their pregnancies, and stop drinking before becoming pregnant.

ObjectivesWe examined the association of an array of estimated maternal occupational physical activities and psychosocial stressors during pregnancy with odds for preterm birth (PTB) and small-for-gestational age (SGA).MethodsData for infants born without major birth defects delivered from 1997 to 2009 whose mothers reported working at least 1 month during pregnancy were obtained from the National Birth Defects Prevention Study. We linked occupational codes to the US Department of Labor's Occupational Information Network, which provides estimates of exposure for multiple domains of physical activity and psychosocial stressors by occupational categories. We conducted factor analysis using principal components extraction with 17 occupational activities and calculated factor scores. ORs for PTB and SGA across quartiles of factor scores in each trimester were computed using logistic regression.ResultsFactor analysis grouped occupational domains into 4 groups based on factor loadings. These groups were ‘occupational physical activity’, ‘interpersonal stressor’, ‘automated work’ and ‘job responsibility’. High levels of ‘occupational physical activity’ were significantly associated with SGA (adjusted OR (AOR) for highest quartile compared with lowest quartile of factor score: 1.36; 95% CIs 1.02 to 1.82; p for trend=0.001) and were also positively associated with PTB (AOR: 1.24; 95% CI 0.93 to 1.64; p for trend=0.01). No clear results were observed across domains of psychosocial stressors.ConclusionsOur findings expand understanding of associations between occupational physical activity and psychosocial stressors and PTB and SGA and suggest that additional research is needed to further examine these relationships.

Background Maternal prepregnancy body mass index (BMI) is associated with several infant outcomes, but it is unclear whether these associations reflect causal relationships. We conducted a study of interpregnancy change in BMI (IPC-BMI) to improve understanding of the associations between BMI and large for gestational age (LGA), small for gestational age (SGA), and preterm birth (PTB). Methods Birth certificate data from 2481 linked sibling pairs (Texas, 2005–2012) were used to estimate IPC-BMI and evaluate its association with LGA, SGA, and PTB in the younger sibling of the pair. Multivariable logistic regression was used to estimate adjusted odds ratios (aOR) and 95% confidence intervals (CI) using data from the full sample and within strata defined by prepregnancy BMI for the older sibling. Results On average, women gained 1.1 BMI units between pregnancies. In the full sample, interpregnancy BMI decreases were associated with reduced odds of LGA and increased odds of SGA and PTB (IPC-BMI < -1 versus 0 to < 1: LGA aOR 0.7, 95% CI 0.4, 1.1; SGA aOR 1.6, 95% CI 1.0, 2.7; PTB aOR 1.9, 95% CI 1.3, 2.8). In stratified analyses, similar associations were observed in some, but not all, strata. Findings for interpregnancy BMI increases were less consistent, with little evidence for associations between these outcomes and the most extreme IPC-BMI increases. Conclusions There is growing evidence that interpregnancy BMI decreases are associated with LGA, SGA, and PTB. However, taken as a whole, the literature provides insufficient evidence to establish causal links between maternal BMI and these outcomes.

Background: Maternal obesity and diabetes are both associated with increased risk of congenital central nervous system (CNS) malformations in the offspring and may share a common underlying mechanism. Our objective was to evaluate whether gestational diabetes influenced the association of prepregnancy maternal obesity and risks for CNS birth defects. Methods: This Texas population-based case-control study evaluated births occurring January 1997 through June 2001. Data came from structured telephone interviews. Cases (n = 477) were mothers of offspring with anencephaly (n = 120), spina bifida (n = 184), holoprosencephaly (n = 49), or isolated hydrocephaly (n = 124). Controls (n = 497) were mothers of live infants without abnormalities randomly selected from the same hospitals as cases. Response rates were approximately 60% for both cases and controls. We evaluated maternal obesity (body mass index ≥30.0 kg/m²) and risks for CNS birth defects, as well as whether gestational diabetes influenced the risks. Results: After adjusting for maternal ethnicity, age, education, smoking, alcohol use, and periconceptional vitamin use, obese women had substantially increased risks of delivering offspring with anencephaly (odds ratio = 2.3; 95% confidence interval = 1.2-4.3), spina bifida (2.8; 1.7-4.5), or isolated hydrocephaly (2.7; 1.5-5.0), but not holoprosencephaly (1.4; 0.5-3.8). Odds ratios were higher for the joint effects of maternal obesity and gestational diabetes, with evidence for interaction on a multiplicative scale. Conclusions: Maternal obesity and gestational diabetes may increase the risk of CNS birth defects through shared causal mechanisms.

Background: Oral contraceptives (OCs) are the most commonly used reversible contraceptive method among US women. Although the majority of previous studies have reported no association between OC use during pregnancy and birth defects, some studies have reported increased occurrence of neural tube defects, limb reduction defects, and urinary tract anomalies. Methods: We assessed OC use among mothers who participated in the multisite, case-control, National Birth Defects Prevention Study. Mothers of 9986 infants with 32 types of birth defects and 4000 infants without birth defects were included. Results: Maternal OC use during the first 3 months of pregnancy was associated with an increased odds ratio for 2 of 32 birth defects: hypoplastic left heart syndrome (adjusted odds ratio = 2.3 [95% confidence interval = 1.3–4.3) and gastroschisis (1.8 [1.3–2.7]). Conclusion: Previous reports of associations between OC use and specific types of anomalies were not corroborated. Given that associations were assessed for 32 types of birth defects, our findings of 2 increased associations between OC use and gastroschisis and hypoplastic left heart syndrome should be interpreted as hypotheses until they can be evaluated further. Overall, our findings are consistent with the majority of previous studies that found women who use OCs during early pregnancy have no increased risk for most types of major congenital malformations.

BackgroundSome assessments indicate the prevalence of certain birth defects varies by urban–rural status. We evaluated associations between urban–rural residence and a spectrum of birth defects, using a phenome-wide association study approach in Texas, a state with large urban centers and expansive rural areas.MethodsData for birth defects and livebirths during 1999–2015 were obtained from the Texas Birth Defects Registry and the Center for Health Statistics. Maternal residence was classified as urban or rural, and prevalence ratios (PR) and 95% confidence intervals (CI) were calculated for any defect and 140 specific defects by Poisson regression.ResultsOverall, birth defects were less frequent in rural compared to urban counties (PR = 0.88, 95% CI: 0.87–0.89). Twelve specific defects were less prevalent in rural counties, including ventricular septal defects (VSDs; PR = 0.76, 95% CI: 0.73–0.79) and hypospadias (PR = 0.86, 95% CI: 0.82–0.89). For some birth defects, including VSDs, there was evidence of decreasing prevalence with decreasing population size.ConclusionsIn our large population-based assessment, we demonstrated that several birth defects were less prevalent in rural counties, suggesting that characteristics of urban settings may be relevant to their etiologies, diagnosis, or surveillance. Further research is needed to identify specific exposures underlying these associations.ImpactThere are few studies of birth defects prevalence in urban versus rural settings. To address this, we investigated a comprehensive range of birth defects, including several rare defects that have not been previously studied, in a large and diverse population.We identified 12 structural birth defects that were less prevalent in rural areas.Findings suggest possible differential exposures among urban and rural women, and/or possible underdiagnosis of certain birth defects in rural areas.Findings highlight the need for further study of geographically referenced risk factors for birth defects, and of the completeness of birth defects ascertainment in rural areas.

Objectives. We investigated the relationship between race/ethnicity and 27 major birth defects. Methods. We pooled data from 12 population-based birth defects surveillance systems in the United States that included 13.5 million live births (1 of 3 of US births) from 1999 to 2007. Using Poisson regression, we calculated prevalence estimates for each birth defect and 13 racial/ethnic groupings, along with crude and adjusted prevalence ratios (aPRs). Non-Hispanic Whites served as the referent group. Results. American Indians/Alaska Natives had a significantly higher and 50% or greater prevalence for 7 conditions (aPR = 3.97; 95% confidence interval [CI] = 2.89, 5.44 for anotia or microtia); aPRs of 1.5 to 2.1 for cleft lip, trisomy 18, and encephalocele, and lower, upper, and any limb deficiency). Cubans and Asians, especially Chinese and Asian Indians, had either significantly lower or similar prevalences of these defects compared with non-Hispanic Whites, with the exception of anotia or microtia among Chinese (aPR = 2.08; 95% CI = 1.30, 3.33) and Filipinos (aPR = 1.90; 95% CI = 1.10, 3.30) and tetralogy of Fallot among Vietnamese (aPR = 1.60; 95% CI = 1.11, 2.32). Conclusions. This is the largest population-based study to our knowledge to systematically examine the prevalence of a range of major birth defects across many racial/ethnic groups, including Asian and Hispanic subgroups. The relatively high prevalence of birth defects in American Indians/Alaska Natives warrants further attention.

Lowered maternal weight gain and reduction in early pregnancy have been associated with risk of neural tube defects (NTDs) in offspring. We examined the association of self-reported maternal dieting behaviors on the occurrence of NTDs. We conducted a population based case–control study among Mexican–American women who were residents of the 14 Texas counties bordering Mexico. Case women had an NTD-affected pregnancy identified at birth or prenatally and had deliveries during the years 1995–2000. Control women were those who delivered live born infants without an apparent congenital malformation, randomly selected and frequency-matched to cases by year and facility. One hundred eighty-four case women and 225 control women were asked in person about the use of nutritional supplements, dieting to lose weight, and type of weight reduction supplements used during the 3 months before conception. Women who reported being on a diet to lose weight during the 3 months before conception had an NTD odds ratio (OR) of 1.9 (95% confidence interval (CI) = 1.1, 3.3) compared with those not reporting being on a diet. Neither consuming vitamin drinks (OR = 1.2) nor using diet pills (OR = 1.6) during the 3 months before conception had ORs that were different from the null, when compared to women not reporting those behaviors. The risk effect for dieting did not differ markedly among normal or underweight (OR = 2.0, 95% CI = 0.7, 5.6), overweight (OR = 1.9, 95% CI = 0.7, 5.0), or obese women (OR = 1.5, 95% CI = 0.6, 4.0). No effect was seen among dieting women who were consuming at least 1.0 mg/day of folate (OR = 1.1, CI = 0.3, 4.5). Maternal dieting prior to conception may increase the risk of NTDs in offspring.