Prevalence of structural birth defects among infants with Down syndrome, 2013–2017: A US population‐based study

Abstract

BackgroundDown 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.MethodsStates 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.ResultsWe 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%).ConclusionsOur 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.

Co‐occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013–2017: A U.S. population‐based analysis

“…We limited cases to ≥20 weeks gestation (or 350 g birthweight where gestational age was missing) to allow for diagnosis of co‐occurring congenital anomalies. To examine co‐occurring congenital anomalies, we followed the methods described in Heinke et al (2021). However, due to the small cell sizes resulting from stratification by maternal race/ethnicity, we limited this analysis to major and minor congenital anomalies by organ systems and four selected cardiovascular birth defects commonly associated with DS: atrial septal defect (ASD), atrioventricular septal defect (AVSD), tetralogy of Fallot (TOF), and ventricular septal defect (VSD).…”

“…Several reports have indicated that the prevalence of DS varies by race and ethnicity within the United States. For example, the highest prevalence is among children born to Hispanic mothers (15.4–16.6 per 10,000 live births), while the prevalence among children born to non‐Hispanic Black and non‐Hispanic Asian or Pacific Islander mothers is lower (10.2–10.9 and 10.8–11.6 per 10,000 live births, respectively) (Heinke et al, 2021; Mai et al, 2019). However, patterns of co‐occurring congenital anomalies by race and ethnicity are only beginning to be described (Freeman et al, 2008), which limits our understanding of disparities among individuals with DS.…”

Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry

“…Trisomy 21 is the most common chromosomal disorder, approximately 1 of 800 births worldwide [18], with CHD found in 44 %-66 % of these infants [18,19]. The highest rate of trisomy 21 in this study was in patients with AVSD/ECD (31.1 %), followed by PDA, VSD, PTA, TOF, Ebstein, and ASD.…”

Prevalence of Single Umbilical Artery (Isolated and non-isolated) and Its Correlation with Birth Defects and Premature Death

“…The occurrence of SUA becomes more frequent when the mothers considered for the study suffer from medical and pregnancy complications. Such maternal health problems include preexisting diabetes, high blood pressure, placental abnormalities, and epileptic episodes [2,17,18] .If the mother undergoes frequent administration of levothyroxine or phenytoin, is dependent on other drugs, has an irregular pattern of conception that may be seasonal, etc also puts the fetus at risk for SUA [10,11,12,19].…”

“…The prevalence of SUA varies from population to population examined and the timeline of testing, which is found to be from 0.2 percent in newborns to 11% in high-risk fetuses at 11-14 weeks of gestation. [9, 6,10,11].…”