Cell-free DNA for the detection of fetal aneuploidy

Tamar Goldwaser, Susan Klugman

Research output: Contribution to journalReview articlepeer-review

19 Scopus citations


Screening for fetal aneuploidy via cell-free DNA was described more than two decades ago and has been used clinically by obstetric providers in the United States for more than 5 years. Cell-free DNA affords excellent detection of fetal Down syndrome and other common aneuploidies and thus is sought by patients and providers. However, owing to the source of the DNA and the nature of the screening test, scenarios may arise that require expert counseling about complex issues regarding fetal and maternal health, test interpretation, and management. It is essential that infertility specialists understand the specific issues related to the strengths and limitations of this screening test, especially in light of expanded genetic testing of embryos.

Original languageEnglish (US)
Pages (from-to)195-200
Number of pages6
JournalFertility and sterility
Issue number2
StatePublished - Feb 2018


  • Aneuploidy
  • cell-free DNA
  • prenatal

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology


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