Birth defect co-occurrence patterns in the Texas Birth Defects Registry.

ABSTRACT:

Background

The population-level landscape of co-occurring birth defects among infants without a syndromic diagnosis is not well understood.

Methods

We analyzed data from 40,771 infants with two or more major birth defects in the Texas Birth Defects Registry (TBDR; 1999-2014). We calculated adjusted observed-to-expected (O/E) ratios for all two, three, four, and five-way combinations of 138 major defects.

Results

Among 530 patterns with the highest adjusted O/E ratios (top 5% of 10,595 patterns), 66% included only defects co-occurring within one organ system and 28% were suggestive of known patterns (e.g., midline developmental defects). Of the remaining patterns, the combination of defects with the highest O/E ratio (193.8) encompassed the diaphragm, spine, spleen, an

SUBMITTER: Benjamin RH 

PROVIDER: S-EPMC8716666 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature