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

Wawrzyniec Rieder; Scott White; George McGillivray; Lisa Hui

doi:10.1111/ajo.12834

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.

Authors

Wawrzyniec Rieder^{1

2}, Scott White^{3

4}, George McGillivray^{1

5

6}, Lisa Hui^{1

5

7

8}

Affiliations

¹ Mercy Perinatal, Mercy Hospital for Women, Melbourne, Victoria, Australia.
² Department of Obstetrics and Gynecology, CHUV, Lausanne, Switzerland.
³ Maternal Fetal Medicine Service, King Edward Memorial Hospital, Perth, Western Australia, Australia.
⁴ Division of Obstetrics and Gynecology, The University of Western Australia, Perth, Western Australia, Australia.
⁵ Public Health Genetics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
⁶ Royal Women's Hospital, Melbourne, Victoria, Australia.
⁷ Department of Obstetrics and Gynecology, University of Melbourne, Melbourne, Victoria, Australia.
⁸ Department of Obstetrics and Gynecology, The Northers Hospital, Melbourne, Victoria, Australia.

PMID: 29900540
DOI: 10.1111/ajo.12834

Abstract

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

Substances

Cell-Free Nucleic Acids