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The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five-year survival probability of 94.6%. The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation., (© 2023 Wiley Periodicals LLC.)

Background: There are noted birth defects prevalence differences between race/ethnicity groups. For instance, non-Hispanic (NH) Black mothers are more likely to have an infant with encephalocele, although less likely to have an infant with anotia/microtia compared to NH Whites. When stratifying by nativity and years lived within the United States, additional variations become apparent., Methods: Data from the National Birth Defects Prevention Study were used to calculate descriptive statistics and estimate crude/adjusted odds ratios (aORs) and 95% confidence intervals (95%CIs) among NH Blacks with one of 30 major defects and non-malformed controls. Total case/controls were as follows: U.S.- (2,773/1101); Foreign- (343/151); African-born (161/64). Study participants were also examined by number of years lived in the U.S. (≤5 vs. 6+ years)., Results: Compared to U.S.-born, foreign-born NH Black controls tended to be older, had more years of education, and were more likely to have a higher household income. They also had fewer previous livebirths and were less likely to be obese. In the adjusted analyses, two defect groups were significantly attenuated: limb deficiencies, aORs/95%CIs = (0.44 [0.20-0.97]) and septal defects (0.69 [0.48-0.99]). After stratifying by years lived in the United States, the risk for hydrocephaly (2.43 [1.03-5.74]) became apparent among those having lived 6+ years in the United States. When restricting to African-born mothers, none of the findings were statistically significant., Conclusions: Foreign-born NH Blacks were at a reduced risk for a few selected defects. Results were consistent after restricting to African-born mothers and did not change considerably when stratifying by years lived in the United States., (© 2020 Wiley Periodicals, Inc.)

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., (© 2019 Wiley Periodicals, Inc.)