biostudies-literatureHowley MMNCBDD CDC HHSEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNICHD NIH HHSCenters for Disease Control and PreventionNIEHS NIH HHSEPAHSRD VACDC HHS43-55https://www.ebi.ac.uk/biostudies/studies/S-EPMC9464263biostudies-literatureUnknown115(1)<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Of the 50,186 case infants eligible forBirth defects researchPatterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.PMC9464263U01 DD001227NOFO #DD18‐001P30 ES005605NOFO #DD18-001R01 HD093660FOA #DD09-001PA #96043FOA #DD09‐001CDP 13-003FOA #DD13‐003PA #02081U01 DD000487U01 DD001224EP-D-18-001FOA #DD13-003U01 DD001032Williford ENational Birth Defects Prevention StudyCunniff CMRomitti PAHowley MMLin AENestoridi EAgopian AJBrowne MLBotto LDfalsePatterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>Of the 50,186 case infants eligible for2023-01-01T00:00:00Z2023 Jan2026-05-28T01:55:11.014Z2025-04-04T19:00:31.425ZS-EPMC94642633527795210.1002/bdr2.2003