Linking family history in obstetric and pediatric care: assessing risk for genetic disease and birth defects

Abstract

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.