Modifying Risk of Aneuploidy with a Positive Cell-Free Fetal DNA Result

Clin Lab Med. 2016 Jun;36(2):249-59. doi: 10.1016/j.cll.2016.01.018.


Noninvasive genomic assessments of the fetus while in utero have been made possible by the analysis of cell-free fetal DNA fragments from the serum of pregnant women, as part of a noninvasive prenatal testing screening strategy. Between 7% and 10% of total cell-free DNA in the maternal blood comes from placental trophoblasts, allowing for identification of the DNA associated with the fetal component of the placenta. Using simple venipuncture in the outpatient setting, this cell-free, extracellular fetal DNA can be isolated in the maternal serum from a single blood draw as early as the seventh week of gestation.

Keywords: Aneuploidy; NIPT; Noninvasive; Prenatal diagnosis; Prenatal risk; Prenatal screening.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / epidemiology
  • DNA / blood
  • Female
  • Humans
  • Predictive Value of Tests
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Risk Factors
  • Sensitivity and Specificity


  • DNA