Overview

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.

Research team

Professor Jane Halliday PhD 
Principal investigator of the Victorian Prenatal Diagnosis Database. Jane is an epidemiologist, Group Leader of Reproductive Epidemiology at the Murdoch Children’s Research Institute in Victoria.

Associate Professor Lisa Hui MBBS PhD 
Team leader. A/Prof Lisa Hui is an obstetrician with subspecialist qualifications in maternal fetal medicine. She completed her clinical training in obstetrics and gynaecology in Sydney and performed her PhD research at the Mother Infant Research Institute in Boston before moving to Melbourne in 2013.

Cecilia Pynaker BSc MGH
Research Assistant

Our research

Annual Report on Prenatal Diagnostic testing in Victoria

This publication from the Victorian Prenatal Diagnosis Database (VPDD) analyses state-wide trends in fetal chromosome testing every year. The VPDD is a longstanding 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 number of tests, indications for testing, and test results are provided in each publicly available report.

• Prenatal Annual Report 2022495.42 KB

Annual Report on Postnatal Diagnostic testing in Victoria

This report provides results of postnatal chromosome testing in 2022 for women residing in Victoria, Australia. 

• The Annual Report on Postnatal Diagnostic Testing in Victoria 2022447.2 KB

Perinatal Record Linkage (PeRL) study

Women’s choices of prenatal screening and diagnostic pathways have increased in complexity since introducing 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. The federal government has used our research outputs to assess Medicare funding for prenatal screening.

Resources

Educational resources for pregnant women

Your Choice Prenatal Screening - Your Choice

This free online decision-aid is a web-based app developed in collaboration with James Cook University and Curve Tomorrow. It is designed to help women consider their preferences and options for prenatal testing so that they can have an informed discussion with their health care provider.

• Prenatal screening for chromosome conditions – it’s YourChoice

Continuing professional development on prenatal genetics for doctors and midwives

Publications

Selected publications from the Victorian Prenatal Diagnosis Database (VPDD)

• Loughry L, Pynaker C, White M, Halliday J, Hui L. State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions. Prenat Diagn. 2022 Jan 19. doi: 10.1002/pd.6103. PMID: 35048400.
  
  
• Hui L, Pynaker C, Bonacquisto L, Lindquist A, Poulton A, Kluckow E, Hutchinson B, Norris F, Pertile MD, 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. Reexamining the optimal nuchal translucency cutoff for diagnostic testing in the cell-free DNA and microarray era: results from the Victorian Perinatal Record Linkage study. Am J Obstet Gynecol. 2021; doi: 10.1016/j.ajog.2021.03.050.
  
  
• 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.

Publications from the Perinatal Record Linkage (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.