Abstract

(Abstracted from Genet Med 2018;20:910–917) Maternal plasma DNA sequencing has been offered as an alternative to biochemical and sonographic screening tests for fetal aneuploidy since 2011. The circulating cell-free DNA (cfDNA) fragments in the peripheral blood sample of a pregnant woman derive from 3 tissues: placenta, maternal bone marrow, and the fetus (or fetuses).

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