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Rare Autosomal Trisomies

Important and Not So Rare

Scott, Fergus; Bonifacio, Michael; Sandow, Rhiannon; Ellis, Katie; Smet, Maria-Elisabeth; McLennan, Andrew

Obstetrical & Gynecological Survey: February 2019 - Volume 74 - Issue 2 - p 70–72
doi: 10.1097/01.ogx.0000553177.95633.e4

(Abstracted from Prenatal Diagn 2018;38(10):765–771)

Noninvasive prenatal testing (NIPT) analyzes cell-free DNA (cfDNA) in maternal plasma, which is a combination of DNA from maternal cells and from placental cytotrophoblast. The technique of massively parallel sequencing (MPS) sequences and counts large numbers of unique, single-locus DNA fragments and assigns them to the chromosome of origin.

Sydney Ultrasound for Women, Bondi Junction (F.S., R.S., M.-E.S., A.M.); University of New South Wales, Kensington (F.S.); Genea, Sydney (M.B., K.E.); and Discipline of Obstetrics, Gynaecology and Neonatology, University of Sydney, Camperdown (A.M.), New South Wales, Australia

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