A New Era in Noninvasive Prenatal Testing.

Source

From the Edmond J. Safra Center for Ethics, Harvard University, Cambridge, MA (S.M.); and the Vincent Department of Obstetrics and Gynecology, Massachusetts General Hospital, and Harvard Medical School (M.F.G.); and the Department of Health Policy and Management, Harvard School of Public Health (M.M.M.) - all in Boston.

Abstract

A new, noninvasive prenatal test is poised to change the standard of care for genetic screening. Cell-free fetal DNA (cfDNA) testing requires only a maternal blood sample, can be performed as early as 9 weeks of gestation, and outperforms standard screening tests for trisomies 21, 18, and 13 in high-risk populations. It has a sensitivity exceeding 98% and a specificity above 99.5% (see table). Currently, standard screening entails testing of maternal blood samples at gestational weeks 10 to 13 or 16 to 18 (or at both points) to measure serum markers associated with common trisomies and usually an ultrasound examination, . . .