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Genetics in Medicine
Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problem-atic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement. Methods: A blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotyping was compared with an internally validated, laboratory-developed test based on next-generation sequenc-ing in 212 Down syndromedoi:10.1097/gim.0b013e3182368a0e pmid:22005709 fatcat:q7y2uo5gybb7rldtjb3qa45nby