Article
Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort.
Obstetrics and gynecology - 1 Aug 2014
Pergament Eugene, Cuckle Howard, Zimmermann Bernhard, Banjevic Milena, Sigurjonsson Styrmir, Ryan Allison, Hall Megan P, Dodd Michael, Lacroute Phil, Stosic Melissa, Chopra Nikhil, Hunkapiller Nathan, Prosen Dennis E, McAdoo Sallie, Demko Zachary, Siddiqui Asim, Hill Matthew, Rabinowitz Matthew
Abstract excerpt
OBJECTIVE: To estimate performance of a single-nucleotide polymorphism-based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations on single venopuncture. METHODS: One thousand sixty-four maternal blood samples from 7 weeks of gestation and beyond were included; 1,051 were within specifications and 518 (49.3%) were low risk. Cell-free DNA was amplified, sequenced, and analyzed...
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