Rationale and Comments

NIPT has only been adequately evaluated in singleton pregnancies at high risk for chromosomal abnormalities (maternal age >35, positive screening, sonographic findings suggestive of aneuploidy, translocation carrier at increased risk for trisomy 13, 18, or 21, or prior pregnancy with a trisomy 13, 18, or 21). Its utility in low-risk pregnancies remains unclear. False-positive and false-negative results occur with NIPT, particularly for trisomy 13 and 18. Any positive NIPT result should be confirmed with invasive diagnostic testing prior to a termination of pregnancy. If NIPT is performed, adequate pretest counseling must be provided to explain the benefits and limitations.

Sponsoring Organizations

• Society for Maternal-Fetal Medicine

Sources

• Expert consensus

Disciplines

• Genetic
• Obstetrical

References

• American College of Obstetricians and Gynecologists Committee on Genetics. Noninvasive prenatal testing for fetal aneuploidy. Committee Opinion No. 545. Obstet Gynecol. 2012 Dec;120(6):1532–4.