Heinke, DominiqueIsenburg, Jennifer LStallings, Erin BShort, Tyiesha DLe, MimiFisher, SarahShan, XiaoyiKirby, Russell SNguyen, Hoang HNestoridi, EiriniNembhard, Wendy NRomitti, Paul ASalemi, Jason LLupo, Philip J
Summary
Down syndrome (DS) is often associated with structural birth defects. The expansion of data for structural defects in the DS population are greatly needed and this study aims to fill that need. Researchers identified 13,376 cases of DS and among these cases, 75% had at least one reported co-occurring defect diagnosis at birth. Factors such as infant sex were shown to impact differences in defect prevalance more than factors such as maternal age. This study helps to provide new estimates for structural defects, including rare defects, among children with DS and may aid clinical care decisions.
Abstract
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. 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. 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%). 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.
Conditions
Chromosome Disorders, Congenital Abnormalities