Cell-free DNA (cfDNA) analysis, based on maternal blood sampling, was initially validated as a clinical prenatal screen for pregnancies at high risk for trisomy 21 (Figure). cfDNA screening has since been approved to determine fetal sex and screen for fetal aneuploidy, including trisomies 13, 18, and 21, in high-risk and average-risk pregnancies.1
Allyse MA, Wick MJ. Noninvasive Prenatal Genetic Screening Using Cell-free DNA. JAMA. 2018;320(6):591–592. doi:10.1001/jama.2018.9418
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