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Sibling Recurrence Risk of Non-Chromosomal Birth Defects: A Population-Based Study in Florida, 2000-2019.

Rachel E Rutkowski1, Jean Paul Tanner1, Amanda L Elmore2

  • 1Department of Epidemiology, University of South Florida, Tampa, Florida, USA.

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|February 20, 2026
PubMed
Summary
This summary is machine-generated.

Having an older sibling with a birth defect more than doubles the risk for a younger sibling to also have a birth defect. Recurrence risk is highest for orofacial defects, emphasizing the need for genetic counseling.

Keywords:
birth defectscongenital malformationsgeneticsrecurrencesiblingssurveillance

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Area of Science:

  • Public Health
  • Genetics
  • Epidemiology

Background:

  • Birth defects are a significant public health concern.
  • Understanding sibling recurrence risk is crucial for genetic counseling and reproductive planning.

Purpose of the Study:

  • To estimate sibling recurrence risk for non-chromosomal birth defects.
  • To provide system-specific recurrence risk data.

Main Methods:

  • Analysis of population-based data from the Florida Birth Defects Registry (2000-2019).
  • Inclusion of 1,372,831 sibling pairs with adjustment for maternal and perinatal factors.
  • Use of multivariable logistic regression to calculate adjusted odds ratios (aORs) for recurrence.

Main Results:

  • Younger siblings had more than double the odds of any birth defect if the older sibling was affected (aOR: 2.1).
  • Concordant recurrence risk was highest for orofacial defects (aOR: 18.7).
  • Overall, 4.8% of younger siblings had a birth defect when the older sibling was affected.

Conclusions:

  • Provides updated, system-specific sibling recurrence risk estimates for non-chromosomal birth defects.
  • Findings can inform family counseling, preconception care, and clinical decision-making.