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Updated: Jul 13, 2026
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In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
Published on: March 7, 2025
Congenital defects among liveborn infants with Down syndrome
Mario A Cleves1, Charlotte A Hobbs, Phillip A Cleves
1Arkansas Center for Birth Defects Research and Prevention, Department of Pediatrics, College of Medicine, University of Arkansas for Medical Sciences, and Arkansas Children's Hospital, Little Rock, Arkansas 72202, USA. clevesmarioa@uams.edu
Summary
Infants with Down syndrome (DS) have higher risks for gastrointestinal, genitourinary, orofacial, and abdominal wall malformations. This study provides national data on birth defects in DS infants to aid care planning.
Area of Science:
- Medical research
- Pediatrics
- Genetics
Background:
- Infants with Down syndrome (DS) frequently have congenital malformations.
- Accurate data on birth defects is crucial for managing care for these infants.
- This study analyzes a national hospital discharge dataset to determine the prevalence of structural birth defects in infants with DS.
Purpose of the Study:
- To identify the rates of structural birth defects in liveborn infants with Down syndrome.
- To provide national estimates of congenital malformations associated with DS.
- To inform healthcare providers and parents about the spectrum of birth defects in DS.
Main Methods:
- Utilized ICD-9-CM diagnosis codes from the Healthcare Cost and Utilization Project (HCUP).
- Analyzed data from 1993-2002, including 11,372 infants with DS and over 7.8 million non-DS infants.
- Employed logistic regression models to calculate odds ratios (ORs) for malformations in infants with DS.
Main Results:
- Infants with DS showed significantly elevated risks for gastrointestinal (OR 67.07), genitourinary (OR 3.62), orofacial (OR 5.63), and abdominal wall (OR 3.25) malformations.
- Congenital heart defects were also more common in infants with DS.
- No increased risk of spina bifida was observed in infants with DS compared to controls.
Conclusions:
- This study presents the first national data on congenital malformations co-occurring with Down syndrome.
- Findings can help providers and families anticipate and prepare for the health challenges associated with DS.
- Highlights the need for comprehensive screening and management strategies for infants with DS.
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