Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a foregut defect that is a major component of the VATER/VACTERL association. The specific diagnostic criteria for the VATER/VACTERL association phenotype have changed over time. The current definition is presence of at least three of the following: Vertebral defects, Anal atresia, Cardiac defects, TE fistula, or Renal and Limb anomalies in the absence of a specific genetic diagnosis. Using the Texas Birth Defect Registry, 1,175 cases of EA+/−TEF (174 EA; 1,001 EA + TEF) were evaluated against strict definitions of VATER/VACTERL. Nine (5.2%) cases of EA alone and 164 (16.3%) cases of EA + TEF met criteria for a diagnosis of VATER;and 20 (11.5%) and 223 (22.2%), respectively, met criteria for VACTERL. Trisomy 21, Trisomy 18, 22q11 deletion, and CHARGE were the most common syndromic diagnoses. About 88.5% (154) cases of EA and 77.8% (778) cases of EA + TEF were likely not to meet the criteria for VACTERL. EA+/−TEF is more likely to be an isolated defect or part of a multiple malformation syndrome in a pattern other than VACTERL, than be part of the defined association. This study reinforces the need to consider broader evaluation for alternate diagnoses in the presence of these defects.
Background
Acculturation has been examined with respect to various pregnancy adverse outcomes, including birth defects. Given the mixed and limited findings on the association between nativity and birth defects, we sought to further explore parental nativity and years lived in the U.S. across a range of defects.
Methods
Data from the National Birth Defects Prevention Study were used for this analysis. Infants with one of 46 major isolated birth defects (30 noncardiac/16 cardiac conditions) and infants without birth defects (controls) born during 1997–2011 were included. We examined parental nativity (foreign‐born mothers, fathers, and both parents combined compared to a referent of both U.S.‐born parents) and the number of years lived in the U.S. (≤5/6+ years). Descriptive statistics and logistic regression analyses were performed to estimate crude/adjusted odds ratios and 95% confidence intervals.
Results
Compared to U.S.‐born mothers, foreign‐born mothers tended to be older (25+ years), of Hispanic or Other race/ethnicity and were less likely to have reported drinking, smoking, illicit drug use, or having taken folic acid. In the adjusted analysis, seven findings among both parents reporting a foreign‐birth were significant, including an increased association with spina bifida, anotia/microtia, and diaphragmatic hernia (aORs range: 1.3–1.7), and a reduced association with craniosynostosis and gastroschisis (aORs = 0.7). A generally protective effect was observed among foreign‐born subjects living in the U.S. ≤5 years.
Conclusions
We found that nativity was associated with some selected isolated defects, although the direction of effect varied by phenotype and by a number of years residing in the U.S.
Background
There is considerable variability in the prevalence of birth defects among racial/ethnic groups. This study estimated birth defect prevalence among the less studied non‐Hispanic (NH) Asian/Pacific Islander (PI) and American Indian/Alaska Native (AI/AN) populations in Texas relative to NH Whites.
Methods
Data were obtained from the Texas Birth Defect Registry from 1999 to 2015 for deliveries to Texas‐resident women who were NH White, NH Asian/PI, or AI/AN. This covers a live birth population of 2.6 million. Prevalence ratios and 95% confidence intervals (95% CIs) were calculated for NH Asian/PIs and AI/ANs (relative to NH Whites) for 44 birth defects using Poisson regression adjusting for maternal age.
Results
After adjustment there were 33 statistically significant prevalence ratios (aPRs). Among NH Asian/PIs, 23 defects had a lower aPR (0.38–0.86) and three defects had a higher aPR (1.19–2.50). AI/ANs had one defect with a significantly lower aPR (0.64) and six with a higher aPR (1.36–4.63).
Conclusions
Non‐Hispanic Asian/PIs generally have a lower prevalence ratio for many birth defects while AI/ANs have a higher prevalence ratio compared to NH Whites. These findings update the limited literature on this topic and warrant additional research to identify the true associations across a range of birth defects among these understudied racial/ethnic groups.
We found that risk patterns for microcephaly varied across case groupings. Risk factors included maternal race/ethnicity, age, and smoking during pregnancy. Among severe unexplained cases, notable positive associations were seen among mothers who were non-Hispanic Black or less educated, while inverse associations were noted for obesity.
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