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JAMA Insights
Clinical Update
August 14, 2018

Noninvasive Prenatal Genetic Screening Using Cell-free DNA

Author Affiliations
  • 1Division of Obstetrics and Gynecology, Mayo Clinic, Rochester, Minnesota
  • 2Program in Biomedical Ethics, Mayo Clinic, Rochester, Minnesota
  • 3Division of Clinical Genomics, Mayo Clinic, Rochester, Minnesota
JAMA. 2018;320(6):591-592. doi:10.1001/jama.2018.9418

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

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