Cell-Free DNA Screening for Aneuploidy and Microdeletion Syndromes

Brian Shaffer, Mary E. Norton

Research output: Contribution to journalReview articlepeer-review

14 Scopus citations


Cell-free DNA (cfDNA) screening for the common aneuploidies is an accurate noninvasive screen for the common autosomal and sex chromosome aneuploidies. However, cfDNA screening should not be considered a diagnostic test, and the positive predictive value should be used in counseling women with a positive test regarding the option for diagnostic testing. Compared with traditional screening, cfDNA may not detect as many chromosomal abnormalities of importance. Furthermore, due to the low prevalence of recurrent copy number variants, the clinical utility in screening for microdeletions and duplications is uncertain and is not recommended for the general obstetric population.

Original languageEnglish (US)
Pages (from-to)13-26
Number of pages14
JournalObstetrics and Gynecology Clinics of North America
Issue number1
StatePublished - Mar 1 2018


  • Aneuploidy screening
  • Cell-free DNA screening
  • Noninvasive prenatal testing
  • Prenatal diagnosis
  • Prenatal screening

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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