Article
Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma.
Annual review of medicine - 1 Jan 2016
Wong Felix C K, Lo Y M Dennis
Abstract excerpt
Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness, and these tests are now widely available for clinical use. Moreover, MPS-based NIPT of subchromosomal deletions/duplications and single-gene disorders has also...
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