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Sequencing of Circulating Cell-free DNA during Pregnancy
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Sequencing of Circulating Cell-free DNA during Pregnancy
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Journal Article
Sequencing of Circulating Cell-free DNA during Pregnancy
2018
Overview
Sequence 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.1 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.
Publisher
Massachusetts Medical Society
