Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.

ABSTRACT:

Background

About 20%-30% of children with birth defects have multiple major birth defects in more than one organ system, often referred to as multiple congenital anomalies (MCAs). Evaluating the patterns of MCAs can provide clues to the underlying causes, pathogenic mechanisms, and developmental pathways. We sought to explore selected patterns of MCAs within the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study that excluded cases attributed to known chromosomal or single-gene abnormalities.

Methods

We defined MCAs as having two or more NBDPS-eligible birth defects and calculated the adjusted observed-to-expected ratio for all observed MCA patterns using co-occurring defect analysis.

Results

Of the 50,186 case infants eligible for

SUBMITTER: Howley MM 

PROVIDER: S-EPMC9464263 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature