Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era

Aust N Z J Obstet Gynaecol. 2018 Aug;58(4):397-403. doi: 10.1111/ajo.12834. Epub 2018 Jun 13.


Cell-free DNA screening has quickly become established in Australia as an accurate - albeit costly - prenatal screening test for trisomy 21, 18 and 13. It is also commonly used for the detection of sex chromosome abnormalities. The increasing number of prenatal screening pathways available to women has increased the complexity of pretest counselling. Concurrent advances in diagnostic testing with the widespread use of chromosomal microarrays create further challenges for the continuing education of clinicians and health consumers. This article aims to answer common clinical questions in this rapidly evolving field and complements the recently updated Royal Australian and New Zealand College of Obstetricians and Gynaecologists Statement on Prenatal Screening for Fetal Chromosome and Genetic Conditions.

Keywords: aneuploidy; cell-free DNA; noninvasive prenatal testing; prenatal screening; trisomy 21.

MeSH terms

  • Australia
  • Cell-Free Nucleic Acids*
  • Chromosome Disorders / diagnosis*
  • Down Syndrome / diagnosis
  • Female
  • Genetic Testing*
  • Humans
  • Predictive Value of Tests
  • Pregnancy
  • Prenatal Diagnosis*
  • Trisomy 13 Syndrome / diagnosis
  • Trisomy 18 Syndrome / diagnosis


  • Cell-Free Nucleic Acids