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Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects

Philip J Lupo1, Jennifer L Isenburg2, Jason L Salemi3

  • 1Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine, Houston, Texas.

Birth Defects Research
|November 21, 2017
PubMed

Insights

Epidemiological data reveal the prevalence of gastrointestinal defects in live births. These findings on birth defects like intestinal atresia provide a basis for future research into their causes.

Area of Science:

  • Pediatric epidemiology
  • Birth defects research
  • Gastrointestinal malformations

Background:

  • Gastrointestinal defects represent a diverse group of congenital malformations with significant clinical impact.
  • Limited epidemiological data exist for these common birth defects.
  • The 2017 National Birth Defects Prevention Network (NBDPN) aimed to describe gastrointestinal defect occurrence.

Purpose of the Study:

  • To determine the prevalence of specific gastrointestinal defects using population-based data.
  • To describe the occurrence of biliary atresia, esophageal atresia/tracheoesophageal fistula, and intestinal atresia/stenosis.
  • To investigate the co-occurrence of these gastrointestinal defects with other structural birth defects.

Main Methods:

  • Utilized data from 28 state programs within the 2017 NBDPN annual report (2010-2014).
  • Calculated prevalence per 10,000 live births for four categories of gastrointestinal defects.
  • Analyzed the frequency of co-occurring structural birth defects.

Main Results:

  • Prevalence estimates: Biliary atresia (0.7/10,000), Esophageal atresia/tracheoesophageal fistula (2.3/10,000), Rectal/large intestinal atresia/stenosis (4.2/10,000), Small intestinal atresia/stenosis (3.4/10,000).
  • High rates of co-occurrence with other defects were observed, particularly for esophageal atresia/tracheoesophageal fistula (53.9%), rectal/large intestinal atresia/stenosis (45.5%), and small intestinal atresia/stenosis (50.6%).

Conclusions:

  • Population-based prevalence estimates for key gastrointestinal defects have been established.
  • These findings provide a foundation for future epidemiological investigations.
  • Further research into genetic and environmental factors is needed to understand the etiology of these malformations.
Abstract

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