• Diana W Bianchi and ChiuRossa W KRWKFrom the Prenatal Genomics and Fetal Therapy Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (D.W.B.); and the Li Ka Shing Institute of Health Sciences and the Departm.
• From the Prenatal Genomics and Fetal Therapy Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (D.W.B.); and the Li Ka Shing Institute of Health Sciences and the Department of Chemical Pathology, Chinese University of Hong Kong, Shatin, Hong Kong (R.W.K.C.).
• N. Engl. J. Med. 2018 Aug 2; 379 (5): 464473464-473.

AbstractSequence analysis of cell-free DNA (cfDNA) fragments that circulate in the blood of pregnant women, along with the translation of this method into screening for fetal chromosome abnormalities, is a success story of modern genomic medicine. In less than a decade, prenatal cfDNA testing has gone from small, proof-of-principle studies to a global transformation of prenatal care. As of late 2017, a total of 4 million to 6 million pregnant women had had DNA from their plasma analyzed to screen for fetal aneuploidy. The exponential growth of the test has been a function of the role of the biotechnology industry in its development and marketing. Here we review what has been learned from the wide-scale implementation of this testing, how it has changed prenatal clinical care, and what ethical concerns have arisen, and we speculate about what lies ahead.

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