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

Dominique Heinke; Jennifer L Isenburg; Erin B Stallings; Tyiesha D Short; Mimi Le; Sarah Fisher; Xiaoyi Shan; Russell S Kirby; Hoang H Nguyen; Eirini Nestoridi; Wendy N Nembhard; Paul A Romitti; Jason L Salemi; Philip J Lupo; National Birth Defects Prevention Network

doi:10.1002/bdr2.1854

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

Journal article

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

Dominique Heinke, Jennifer L Isenburg, Erin B Stallings, Tyiesha D Short, Mimi Le, Sarah Fisher, Xiaoyi Shan, Russell S Kirby, Hoang H Nguyen, Eirini Nestoridi, …

Birth defects research, Vol.113(2), pp.189-202

01/15/2021

DOI: 10.1002/bdr2.1854

PMCID: PMC7978493

PMID: 33348463

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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.

Down syndrome

birth defects

maternal age

trisomy 21

infant sex

Details

Title: Subtitle: Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study
Creators: Dominique Heinke - Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, Boston, Massachusetts, USA
Jennifer L Isenburg - National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Erin B Stallings - National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
Tyiesha D Short - Oak Ridge Institute for Science and Education, Oak Ridge, Tennessee, USA
Mimi Le - Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Austin, Texas, USA
Sarah Fisher - Congenital Malformations Registry, New York State Department of Health, Albany, New York, USA
Xiaoyi Shan - Arkansas Reproductive Health Monitoring System, Arkansas Children's Research Institute, Little Rock, Arkansas, USA
Russell S Kirby - College of Public Health, University of South Florida, Tampa, Florida, USA
Hoang H Nguyen - Department of Pediatrics, Division of Cardiology, UT Southwestern Medical Center, Dallas, Texas, USA
Eirini Nestoridi - Center for Birth Defects Research and Prevention, Massachusetts Department of Public Health, Boston, Massachusetts, USA
Wendy N Nembhard - Department of Epidemiology, Fay W. Boozman College of Public Health, University of Arkansas for Medical Sciences and Arkansas Center for Birth Defects Research and Prevention, Little Rock, Arkansas, USA
Paul A Romitti - Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, Iowa, USA
Jason L Salemi - College of Public Health, University of South Florida, Tampa, Florida, USA
Philip J Lupo - Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA
National Birth Defects Prevention Network
Resource Type: Journal article
Publication Details: Birth defects research, Vol.113(2), pp.189-202
DOI: 10.1002/bdr2.1854
PMID: 33348463
PMCID: PMC7978493
NLM abbreviation: Birth Defects Res
ISSN: 2472-1727
eISSN: 2472-1727
Publisher: Wiley
Grant note: CC999999 / Intramural CDC HHS R01CA24986701 / NIH HHS
Language: English
Date published: 01/15/2021
Academic Unit: Epidemiology; Biostatistics
Record Identifier: 9984214680002771

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