Published online September 1, 2007
PEDIATRICS Vol. 120 Supplement September 2007, pp. S66-S70 (doi:10.1542/peds.2007-1010E)
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SUPPLEMENT ARTICLE


Linking Family History in Obstetric and Pediatric Care: Assessing Risk for Genetic Disease and Birth Defects

Siobhan M. Dolan, MD, MPHa and Cynthia Moore, MD, PhDb

a Department of Obstetrics and Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, New York
b National Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia

Family history captures the collective influence of shared genetic susceptibility, shared environmental factors, and common behaviors within families. Throughout the reproductive continuum, pediatricians, obstetricians, family practitioners, genetic counselors, and other clinicians can work with families to elicit relevant family history information and factor it into risk-assessment calculations and, when appropriate, decision-making. Current screening tools have focused on understanding the risk for single-gene disorders, chromosomal conditions, and teratogen exposures during the preconception, prenatal, and interconception periods. More research and data are needed to understand how family history influences risk for a wide variety of complex birth outcomes such as preterm birth, stillbirth, and many birth defects. With a better understanding of the impact of family history on many adverse birth outcomes, tools for the collection of a broader set of pertinent family history information must be developed.

Key Words: family history • preconception • prenatal • interconception • pregnancy • genetics

Abbreviations: NTD—neural tube defect • CF—cystic fibrosis • CMA—chromosomal microarray analysis

Accepted May 16, 2007.