Bringing Noninvasive Prenatal Aneuploidy Testing to an Office Near You: How Close Are We?

Assays for fetal DNA in maternal circulation have come a long way and could represent the next big step in improving prenatal diagnosis.

The ideal diagnostic test for fetal aneuploidy has long eluded providers of obstetric care. Noninvasive screening methods do not detect all cases of aneuploidy (JW Womens Health Mar 8 2007), and invasive diagnostic procedures carry nontrivial risks for pregnancy loss. Investigators in Hong Kong, the Netherlands, and the U.K. sought to validate a method of screening maternal plasma for circulating fetal DNA to detect trisomy 21. A total of 753 maternal serum samples (from pregnancies with known karyotypes based on chorionic villus sampling or amniocentesis) were assayed with maternal plasma DNA sequencing analysis that was multiplexed (multiple samples were pooled and tested together).

The 8-plex test protocol had 79% sensitivity and 99% spec…

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)

Bringing Noninvasive Prenatal Aneuploidy Testing to an Office Near You: How Close Are We?

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Reviewing Author