ACOG - Noninvasive Prenatal Testing for Fetal Aneuploidy

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ACOG - Noninvasive Prenatal Testing for Fetal Aneuploidy

Number 545, December 2012

The American College of Obstetricians and Gynecologists Committee on Genetics
The Society for Maternal-Fetal Medicine Publications CommitteeThis document reflects emerging clinical and scientific advances as of the date issued and is subject to change.
The information should not be construed as dictating an exclusive course of treatment or procedure to be followed.

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Noninvasive Prenatal Testing for Fetal Aneuploidy

ABSTRACT: Noninvasive prenatal testing that uses cell free fetal DNA from the plasma of pregnant women offers tremendous potential as a screening tool for fetal aneuploidy. Cell free fetal DNA testing should be an informed patient choice after pretest counseling and should not be part of routine prenatal laboratory assessment. Cell free fetal DNA testing should not be offered to low-risk women or women with multiple gestations because it has not been sufficiently evaluated in these groups. A negative cell free fetal DNA test result does not ensure an unaffected pregnancy. A patient with a positive test result should be referred for genetic counseling and should be offered invasive prenatal diagnosis for confirmation of test results.