wileyonlinelibrary.com/journal/anzjog 397 © 2018 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists
INTRODUCTION
In less than a decade, the feld of prenatal testing has been trans-
formed by the introduction of cell-free DNA-based (cfDNA) screen-
ing for aneuploidy and the use of chromosomal microarrays
for prenatal diagnostic analysis. The Royal Australian and New
Zealand College of Obstetricians and Gynecologists (RANZCOG)
statement on Prenatal Screening for Fetal Chromosome and
Genetic Conditions has been recently updated.
1
This article com-
plements that statement by answering some of the frequently
asked questions from College members. Further background on
the biology and technical basis of cfDNA screening have been
DOI: 10.1111/ajo.12834
CLINICAL PERSPECTIVE
Contemporary prenatal aneuploidy screening
practice in Australia: Frequently asked questions
in the cell-free DNA era
Wawrzyniec Rieder
1,2
, Scott White
3,4
, George McGillivray
1,5,6
and
Lisa Hui
1,5,7,8
Aust N Z J Obstet Gynaecol 2018; 58: 397–403
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
Correspondence: Dr Wawrzyniec Rieder,
Mercy Hospital for Women, 163 Studley
Road, 3084 Heidelberg, VIC, Australia.
Email: wawrzy.rieder@gmail.com
Conficts of Interest: The authors report
no conficts of interest.
Received: 18 March 2018;
Accepted: 7 May 2018
Cell-free DNA screening has quickly become established in Australia as an accu-
rate – albeit costly – prenatal screening test for trisomy 21, 18 and 13. It is also
commonly used for the detection of sex chromosome abnormalities. The increas-
ing 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 feld and comple-
ments 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