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Introduction

Prenatal genetic testing plays a critical role in obstetric care, allowing for the early detection of genetic and chromosomal abnormalities in the developing fetus.  Commonly tested conditions include aneuploidies (ie, extra or missing chromosomes) and inherited single gene disorders (eg, cystic fibrosis, Tay-Sachs disease).  These tests can yield information to help guide reproductive decisions as well as newborn care.  All testing is accompanied by adequate counseling regarding the limitations, possible outcomes, and significance of testing.

Overview of prenatal genetic testing

Prenatal genetic testing includes both screening and diagnostic procedures.  Screening tests assess a fetus's risk for certain genetic conditions but are unable to determine whether or not the fetus is actually affected.  Diagnostic testing (ie, prenatal diagnosis) provides a definitive diagnosis by directly analyzing fetal genetic material obtained via chorionic villus sampling (CVS) (

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