Birth defects research · 2026
Sibling Recurrence Risk of Non-Chromosomal Birth Defects: A Population-Based Study in Florida, 2000-2019.
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Rutkowski Rachel E, Tanner Jean Paul, Elmore Amanda L, Kirby Russell S, Agopian A J, Salemi Jason L
Аннотация
OBJECTIVES: To estimate sibling recurrence risk for non-chromosomal birth defects using statewide, population-based data.
METHODS: We analyzed data from the Florida Birth Defects Registry to identify singleton siblings born 2000-2019 with any of 43 non-chromosomal birth defects. Multivariable logistic regression was used to estimate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for the association between birth defect occurrence in the older sibling (exposure) and in the younger sibling (outcome). Two analytic scenarios were considered: (1) any birth defect in the younger sibling, and (2) concordant recurrence, defined as a defect within the same body region. Models adjusted for maternal sociodemographic and perinatal characteristics from linked birth certificate and hospital discharge data.
RESULTS: The study population included 1,372,831 sibling pairs, of which 29,611 (2.2%) had an older sibling with a birth defect. Among sibling pairs in which the older sibling was affected, 4.8% of younger siblings also had a birth defect. Younger siblings had over twice the odds of having any birth defect if their older sibling was affected compared to those with an unaffected older sibling (adjusted ROR: 2.1, 95% CI: 2.0-2.2). Recurrence risk varied by body system, with the highest adjusted odds of concordant recurrence observed for orofacial defects (adjusted ROR: 18.7, 95% CI: 13.9-25.1).
CONCLUSIONS: Our findings provide contemporary, system-specific estimates of sibling recurrence that may inform family counseling, preconception care, and clinical decision-making.
METHODS: We analyzed data from the Florida Birth Defects Registry to identify singleton siblings born 2000-2019 with any of 43 non-chromosomal birth defects. Multivariable logistic regression was used to estimate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for the association between birth defect occurrence in the older sibling (exposure) and in the younger sibling (outcome). Two analytic scenarios were considered: (1) any birth defect in the younger sibling, and (2) concordant recurrence, defined as a defect within the same body region. Models adjusted for maternal sociodemographic and perinatal characteristics from linked birth certificate and hospital discharge data.
RESULTS: The study population included 1,372,831 sibling pairs, of which 29,611 (2.2%) had an older sibling with a birth defect. Among sibling pairs in which the older sibling was affected, 4.8% of younger siblings also had a birth defect. Younger siblings had over twice the odds of having any birth defect if their older sibling was affected compared to those with an unaffected older sibling (adjusted ROR: 2.1, 95% CI: 2.0-2.2). Recurrence risk varied by body system, with the highest adjusted odds of concordant recurrence observed for orofacial defects (adjusted ROR: 18.7, 95% CI: 13.9-25.1).
CONCLUSIONS: Our findings provide contemporary, system-specific estimates of sibling recurrence that may inform family counseling, preconception care, and clinical decision-making.