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Clinical Genome Sequencing

Published in Genomic and Personalized Medicine

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study.

Published in Genetics in medicine : official journal of the American College of Medical Genetics

Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement. A blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotypin...