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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. [ABSTRACT FROM AUTHOR]

Background: Down syndrome is the most common chromosomal disorder at birth and is often accompanied by structural birth defects. Current data on major structural defects in this population are limited. Methods: States and territorial population‐based surveillance programs submitted data on identified cases of Down syndrome and identified structural birth defects during 2013–2017. We estimated prevalence by program type and maternal and infant characteristics. Among programs with active case ascertainment, we estimated the prevalence of birth defects by organ system and for specific defects by maternal age (<35, ≥35) and infant sex. Results: We identified 13,376 cases of Down syndrome. Prevalence among all programs was 12.7 per 10,000 live births. Among these children, 75% had at least one reported co‐occurring birth defect diagnosis code. Among 6,210 cases identified by active programs, 66% had a cardiovascular defect with septal defects being the most common: atrial (32.5%), ventricular (20.6%), and atrioventricular (17.4%). Defect prevalence differed by infant sex more frequently than by maternal age. For example, atrioventricular septal defects were more common in female children (20.1% vs. 15.1%) while limb deficiencies were more prevalent in male children (0.4% vs. 0.1%). Conclusions: Our study provides updated prevalence estimates for structural defects, including rare defects, among children with Down syndrome using one of the largest and most recent cohorts to date. These data may aid clinical care and surveillance. [ABSTRACT FROM AUTHOR]

Background/Objectives: In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5‐year birth cohort using data from 30 population‐based birth defect surveillance programs in the United States. Methods: As a special call for data for the 2019 NBDPN Annual Report, state programs reported expanded data on gastroschisis and omphalocele for birth years 2012–2016. We estimated the overall prevalence (per 10,000 live births) and 95% confidence intervals (CI) for each defect as well as by maternal race/ethnicity, maternal age, infant sex, and case ascertainment methodology utilized by the program (active vs. passive). We also compared distribution of cases by maternal and infant factors and presence/absence of other birth defects. Results: The overall prevalence estimates (per 10,000 live births) were 4.3 (95% CI: 4.1–4.4) for gastroschisis and 2.1 (95% CI: 2.0–2.2) for omphalocele. Gastroschisis was more frequent among young mothers (<25 years) and omphalocele more common among older mothers (>40 years). Mothers of infants with gastroschisis were more likely to be underweight/normal weight prior to pregnancy and mothers of infants with omphalocele more likely to be overweight/obese. Omphalocele was twice as likely as gastroschisis to co‐occur with other birth defects. Conclusions: This report highlights important differences between gastroschisis and omphalocele. These differences indicate the importance of distinguishing between these defects in epidemiologic assessments. The report also provides additional data on co‐occurrence of gastroschisis and omphalocele with other birth defects. This information can provide a basis for future research to better understand these defects. [ABSTRACT FROM AUTHOR]

Background: With their unique history of exposure to extensive nuclear testing between 1946 and 1958, descendants of Marshall Island residents may have underappreciated genetic abnormalities, increasing their risk of birth defects. Methods: We conducted a retrospective cohort study of resident women with at least one singleton live birth between 1997 and 2013 in northwest Arkansas using state birth certificate data linked to data from the Arkansas Reproductive Health Monitoring System, a statewide birth defects registry. We calculated unadjusted and adjusted prevalence ratios (PR) and 95% confidence intervals (CI) from modified Poisson regression analyses for non‐Hispanic (NH) whites, NH‐blacks, Hispanics and Marshallese, using NH‐whites as the reference group. Results: Of the 91,662 singleton births during the study period, 2,488 were to Marshallese women. Due to the relatively small number of Marshallese births, we could not calculate prevalence estimates for some defects. Marshallese infants had higher rates of congenital cataracts (PR = 9.3; 95% CI: 3.1, 27.9). Although the number of defects was low, Marshallese infants also had higher rates of truncus arteriosus (PR = 44.0; 95% CI: 2.2, 896.1). Conclusions: Marshallese infants may have increased risk of specific birth defects, but estimates are unstable because of small sample size so results are inconclusive. Larger population‐based studies would allow for further investigation of this potential risk among Marshallese infants. [ABSTRACT FROM AUTHOR]

Hypospadias is one of the most common congenital anomalies. Trends of hypospadias prevalence by severity are not well reported. Most prevalence studies consist of pooled data from different countries or states suffer from low data quality due to inconsistent methodologies, limited variables, and lack of categorization of hypospadias severity. The objective of this study is to examine the prevalence of hypospadias by degrees of severity and associated risk factors using combined data sources from a stable and well-defined population. The study population includes infants born with hypospadias to mothers residing in Arkansas from 1997 to 2016. Cases were identified from an active population-based surveillance program of birth defects. Identified hypospadias cases from surveillance data were linked to birth certificate and to a clinical database. These two data sources provide more details on the location of the defect and maternal and infant characteristics. The prevalence and 95% confidence intervals were calculated using total male live births as denominator. Chi-square test was used to assess the association of nominal variables. Logistic regression was used to calculate adjusted odds ratio. A total 3230 hypospadias cases were identified from 1997 to 2016. The overall prevalence is 83.0 per 10,000 male births. A majority of cases (56.7%) were classified as first degree with the others having second degree (22.8%), third degree (4.7%) or not otherwise specified (15.6%). The highest prevalence of hypospadias was observed among Non-Hispanic whites. Higher prevalence also was observed among mothers in the older age group with no prenatal care in the first trimester and with gestational hypertension or diabetes. Premature or small for gestational age infants tend to have higher prevalence across all levels of severity. The number of hypospadias cases increased over time. After maternal age, race and education were adjusted, higher risk persisted for infants of restricted fetal growth, mothers with gestational hypertension or diabetes and the cohort of 2013–2016. There is an increase of hypospadias cases in Arkansas. Several maternal and infant characteristics associated with higher prevalence for all levels of severity are worth further investigation. Summary Table Prevalence of hypospadias per 10 000 by severity and selected characteristics 1997-2016. Summary Table 1st degree 2nd degree 3rd degree Not otherwise specified Cases Prevalence (95% CI) Cases Prevalence (95% CI) Cases Prevalence (95% CI) Cases Prevalence (95% CI) Maternal Race Non Hispanic–White 1442 53.9 (51.1–56.7) 551 20.6 (18.9–22.4) 91 3.4 (2.7–4.2) 385 14.4 (13.0–15.9) Non Hispanic–Black 232 31 (27.2–35.3) 123 16.4 (13.7–19.6) 39 5.2 (3.7–7.1) 80 10.7 (8.5–13.3) Maternal age 30–34 356 53.6 (48.2–59.4) 133 20 (16.8–23.7) 22 3.3 (2.1–5) 93 14 (11.3–17.1) 35+ 178 56.7 (48.7–65.6) 63 20.1 (15.4–25.7) 19 6.1 (3.6–9.4) 45 14.3 (10.5–19.2) Fetal growth Small for gestational age 213 61.7 (53.7–70.5) 112 32.4 (26.7–39) 61 17.7 (13.5–22.7) 78 22.6 (17.9–28.2) Appropriate gestational age 1373 43.7 (41.4–46.1) 540 17.2 (15.8–18.7) 79 2.5 (2.0–3.1) 370 11.8 (10.6–13) Gestational hypetension 113 58.7 (48.4–70.5) 48 24.9 (18.4–33.0) 28 14.5 (9.7–21) 42 21.8 (15.7–29.5) Gestational diabetes 73 53.9 (42.3–67.8) 33 24.4 (16.8–34.2) 8 5.9 (2.6–11.6) 20 14.8 (9.0–22.8) Birth cohort 2002–2006 546 56 (51.4–60.9) 149 15.3 (12.9–17.9) 37 3.8 (2.7–5.2) 93 9.5 (7.7–11.7) 2007–2011 430 42.5 (38.5–46.7) 228 22.5 (19.7–25.6) 45 4.4 (3.2–5.9) 153 15.1 (12.8–17.7) 2012–2016 505 52.5 (48.0–57.2) 256 26.6 (23.4–30.1) 46 4.8 (3.5–6.4) 118 12.3 (10.1–14.7) CI=Confidence Intervel [ABSTRACT FROM AUTHOR]