Is Prenatal Cell-Free DNA Aneuploidy Screening Useful for All?

Compared with standard screening, cell-free DNA screening had lower false-positive rates for trisomies 21 and 18 in a general obstetric population; but this technology's performance must be replicated before it can be routinely used in low-risk women.

The use of cell-free DNA (cfDNA) testing as a primary screen for aneuploidy has greatly changed obstetric practice as applied to high-risk women (typically defined as those older than 35 at delivery). Women who screen negative are less likely to proceed with invasive diagnostic testing, thus averting the risk for procedure-related miscarriage. However, because the cfDNA screen's utility has been documented only in women at highest risk for aneuploidy, low-risk populations have often been excluded from the test in clinical practice. In an industry-supported study, investigators enrolled women at 21 general prenatal care centers to evaluate the performance of cfDNA compared with standard aneuploidy screens (whether first-trimester combined, s…

Reviewing Author

Allison Bryant, MD, MPH

Disclosures

RoyaltiesUpToDate

Leadership Positions in Professional SocietiesSociety for Maternal-Fetal Medicine (Board of Directors)

Allison Bryant, MD, MPH

Disclosures

RoyaltiesUpToDate

Leadership Positions in Professional SocietiesSociety for Maternal-Fetal Medicine (Board of Directors)

Is Prenatal Cell-Free DNA Aneuploidy Screening Useful for All?

Topics

Reviewing Author