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Prenatal screening and diagnosis for fetal chromosome conditions

Research project

All pregnant women in Australia are offered voluntary prenatal screening for fetal chromosome conditions to learn more about their health of their unborn baby. The Reproductive Epidemiology group has led research in this field for many years, publishing scientific papers and reports on prenatal testing that have informed Australian clinical practice guidelines and health policy.

Our team

Professor Jane Halliday PhD (Principal investigator of the Victorian Prenatal Diagnosis Database)
Associate Professor Lisa Hui MBBS PhD (Team leader)
Cecilia Pynaker BSc MGH (Research Assistant)

The Annual Report on Prenatal Diagnostic testing in Victoria

Prenatal diagnostics graph

This publication from the Victorian Prenatal Diagnosis Database (VPDD) analyses state-wide trends in fetal chromosome testing every year. The VPDD is a long standing collaboration between the Reproductive Epidemiology group, the Victorian Clinical Genetics Services, Monash Pathology, and formerly, Melbourne Pathology and Australian Clinical Laboratories.

A comprehensive description of numbers of tests, indications for testing and test results are provided in each publicly-available report.

A PDF version of the latest annual report from the VPDD can be downloaded here.

Selected publications from the VPDD

  • Lindquist A, Poulton P, Halliday L, Hui L. Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing. Ultrasound Obstet Gynecol 2017. DOI:10.1002/uog.18979.
  • Lostchuck E, Poulton A, Halliday J, Hui L. Population-based trends in ultrasound-indicated prenatal diagnosis from 1994 to 2016: two decades of change. Ultrasound Obstet Gynecol. 2018. doi: 10.1002/uog.19107.
  • Hui L, Barclay J, Poulton A, Hutchinson B, Halliday J. Prenatal diagnosis and socioeconomic status in the non-invasive prenatal testing era: a population-based study: Aust NZ J Obstet Gynaecol. 2018. DOI: 10.1111/ajo.12778
  • Hui L, Hutchinson B, Poulton A, Halliday JL. Population-based impact of noninvasive prenatal screening (NIPS) on screening and diagnostic testing for fetal aneuploidy. Genet Med 2017; doi:10.1038/gim.2017.55
  • Hui L, Muggli E, Halliday JL. Population-based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state-wide data. BJOG 2016; 123(1): 90-7.

The Perinatal Record Linkage (PeRL) study

Women’s choices of prenatal screening and diagnostic pathways have increased in complexity since the introduction of new technologies such as cell-free DNA-based screening (noninvasive prenatal testing) and chromosomal microarrays. In the PeRL study, we performed individual record-linkage of women undergoing screening and diagnostic testing to understand the utilization of prenatal testing in Victoria, and to analyse the performance of different screening strategies . Our research outputs have been used by the federal government to assess Medicare funding for prenatal screening.

Publications from the PeRL study

  • Lindquist A*, Hui L*, Poulton A, Kluckow E, Hutchinson B, Pertile MD, Bonacquisto L, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, da Silva Costa F, Menezes M, Palma-Dias R, Nisbet D, Martin N, Bethune M, Poulakis Z, Halliday J. State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study. Ultrasound Obstet Gynecol. 2020. doi: 10.1002/uog.21899.* Joint first authors.
  • Hui L, Poulton A, Kluckow E, Lindquist A, Hutchinson B, Pertile MD, Bonacquisto L, Gugasyan L, Kulkarni A, Harraway J, Howden A, McCoy R, Da Silva Costa F, Menezes M, Palma-Dias R, Nisbet D, Martin N, Bethune M, Poulakis Z, Halliday L. A minimum estimate of the prevalence of 22q11 deletion syndrome and other chromosome abnormalities in a combined prenatal and postnatal cohort. Hum Reprod 2020. doi:10.1093/humrep/dez286
  • Kluckow E, Halliday J, Poulton A, Lindquist A, Hutchinson B, Bethune M, Bonacquisto L, Da Silva Costa F, Gugasyan L, Harraway J, Howden A, Kulkarni A, Martin N, McCoy R, Menezes M, Nisbet D, Palma-Dias R, Pertile MD, Poulakis Z, Hui L. Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016. Prenat Diagn. 2019. doi: 10.1002/pd.5577.

Educational resources for pregnant women

Your choice Prenatal Screening tests in pregnancy

Communicating comprehensive, unbiased information in plain English to consumers is an essential part of informed decision-making. We have developed a free online resource called “Your Choice”, which contains an information booklet and an online decision aid for women to use when thinking about which type of genetic tests to have in pregnancy. This is currently being updated to a web-based app in collaboration with James Cook University and Curve Tomorrow.


Continuing professional development on prenatal genetics for doctors and midwives

Genetic technology advances rapidly, and it is challenging for clinicians to keep abreast of new testing options and best practice in maternity care. We have developed an online, flexible course with the University of Melbourne to help doctors and midwives acquire the knowledge and skills they need to provide prenatal and pre-pregnancy genetic screening in their daily practice. For more information about the course, please click here.

Genetics in pregnancy