Reproductive Epidemiology Research
Advancing reproductive health outcomes associated with prenatal risk factors through data and discovery.
The Reproductive Epidemiology research group at the Murdoch Children’s Research Institute (MCRI) combines expertise in epidemiology, psychology, genetics, and maternal fetal medicine to measure, monitor, and maximise longitudinal health outcomes associated with prenatal risk factors.
Our research
Our group evaluates how current and emerging genetic technologies are being used in real-world settings, particularly in prenatal diagnosis and population screening for genetic disorder.
We also study how genetic information is communicated within families, and how it influences decision-making and health outcomes.
We take a comprehensive approach by integrating:
- Genetic and epigenetic data
- Environmental exposures
- Socio-demographic factors
Our research focuses on how these elements interact during prenatal development, especially in contexts such as:
- Assisted Reproductive Technologies (ART)
- Prenatal alcohol exposure
We aim to understand how these early-life exposures affect the health and wellbeing of infants, children, and young adults, with the goal of informing safer, more equitable reproductive and public health practices.
Key research areas
Prenatal genomic diagnosis
We are conducting a follow-up study on children diagnosed with and without genomic variants before birth, examining their developmental, social-emotional, and health outcomes.
Assisted Reproductive Technologies (ART)
Our team has published world-first findings on the health of young adults conceived via ART, confirming the overall safety of these procedures. We are also investigating how lifestyle and environmental factors, associated with male infertility, may influence health and well-being of their children conceived by ART.
Prenatal alcohol exposure
In a major ongoing study, we are exploring the effects of low-to-moderate alcohol exposure during pregnancy on child development. This research uses early developmental markers and considers a range of influences, including maternal and infant genetics, epigenetics, and lifestyle factors.
Our team
Our multidisciplinary team brings together expertise in:
- Epidemiology
- Psychology
- Maternal and fetal medicine
- Health services research
- Genetics and genomics
- Genetic counselling
Using these approaches, the team applies a detailed knowledge of genetics and genomics to the research and undertakes collaborative projects in many areas.
With over 40 years of experience monitoring prenatal diagnostic testing in Victoria, our research has shaped clinical services, informed public policy, and provided accurate, accessible information to families.
Contact us
Professor Lisa Hui, Group Leader / Honorary Fellow Manager
Email:
show email address
Group Leaders
Group Members
Our projects
Assisted Reproductive Technologies (ART) and the long-term health of offspring
Assisted Reproductive Technologies (ART) were pioneered in Victoria and so people conceived by IVF are now up to 40 years of age. There is a widely held belief that common adult-onset disorders (particularly cardiovascular and respiratory diseases) begin in early life, possibly even before birth. Children born following the use of ART might therefore be in a specific risk category because of the techniques used to enable successful pregnancies.
The aim of our research into young adults conceived by ART has been to investigate their long-term health outcomes.
Read more...
Australian Hand Difference Register (AHDR)
The Australian Hand Difference Register (AHDR) is a database of children born with a hand difference and/or arm difference. Researchers in the Reproductive Epidemiology group manage the AHDR and there is a collaboration with clinicians from both the Plastic and Maxillofacial Surgery Department at The Royal Children’s Hospital and hospitals around Australia.
Read more...
Australian Male Infertility Exposure (AMIE) Study
This male fertility study aims to determine the lifestyle and environmental factors that put men at risk of infertility. About 30,000 couples seek help to have a baby each year in Australia. In half of the couples needing help, it is the man who has a fertility issue. The causes of male infertility are still a mystery. We will ask 2,000 men from IVF Clinics around Australia to complete a survey so we can get a better understanding of the lifestyle and environmental factors that are associated with unexplained male infertility. This study is funded by the Medical Research Futures Fund Emerging Priorities and Consumer Driven Research Initiative (EPCD000007).
Read more...
Childhood outcomes of genomic copy number variants: PrenatAL Microarray cohort (PALM study)
The PALM study will follow up on the health outcomes of children whose mothers had a particular genetic test during their pregnancy.
Read more...
Prenatal screening and diagnosis for fetal chromosome conditions
We manage the Victorian Prenatal Diagnosis Database (VPDD), which collects state-wide data on prenatal diagnosis for fetal chromosome conditions each year and publishes an annual report for use by clinicians and scientists. This data collection represents one of the longest-running population-based prenatal diagnosis data collections in the world.
Read more...Alcohol Use in Pregnancy (AQUA): What questions should we be asking?
This research, funded by NHMRC, has compared the effects of low or moderate alcohol consumption during pregnancy with not drinking any alcohol. The study recruited 1,570 participants who completed a questionnaire in each trimester of pregnancy, including a specifically developed set of questions on alcohol intake.
We collected questionnaire data and completed various clinical assessments on children at one and two years of age. The children are currently being followed up at six to seven years of age, having further neurodevelopmental assessments, 3D facial imaging and brain MRI.
Funding
Thank you to our supporters.
- Aussie Hands Foundation Inc
- Australasian Foundation for Plastic Surgery
- McBain Family Trust
- McNally Family Foundation
- Medical Research Future Fund
- National Health and Medical Research Council
Collaborations
We partner with leading institutions worldwide, including:
National
- Deakin University
- Eastern Health
- Healthy Male (Andrology Australia)
- Hudson Institute of Medical Research
- La Trobe University
- Melbourne IVF
- Mercy Health
- Monash Health
- Monash IVF
- Monash Ultrasound for Women
- Monash University
- The Royal Women’s Hospital
- The University of Melbourne
- Western Health
- ANZAC Research Institute
- Curtin University
- Fertility Specialists of Western Australia
- Flinders Medical Centre
- IVF Australia
- James Cook University
- Perth Children's Hospital
- Queensland Children's Hospital
- Queensland Fertility Group
- Royal Hospital for Women, Randwick
- Sydney Children's Hospital, Randwick
- Telethon Kids Institute
- The Children's Hospital at Westmead
- The University of NSW
- The University of Sydney
- The University of Western Australia
- The Women's and Children's Hospital, Adelaide
International
- Aarhus University, Denmark
- Columbia University Irving Medical Center, USA
- Newcastle University, UK
- UCL Great Ormond Street Institute of Child Health, UK
- University of Surrey, UK
- University of Turku, Finland
Featured publications
Poulton A, Menezes M, Hardy T, Lewis S, Hui L. IVF success rates in individuals accessing preimplantation genetic testing for monogenic conditions (PGT-M): a single centre retrospective cohort study of 572 IVF cycles. J Assist Reprod Genet. 2025 Mar 11. doi: 10.1007/s10815-025-03416-6. Epub ahead of print. PMID: 40067642.
Poulton A, Menezes M, Hardy T, Lewis S, Hui L. Clinical outcomes following preimplantation genetic testing for monogenic conditions: a systematic review of observational studies. Am J Obstet Gynecol. 2025 Feb;232(2):150-163. doi: 10.1016/j.ajog.2024.09.114. Epub 2024 Oct 2. PMID: 39362513.
Hui L, Marzan MB, Rolnik DL, Potenza S, Pritchard N, Said JM, Palmer KR, Whitehead CL, Sheehan PM, Ford J, Mol BW, Walker SP. Reductions in stillbirths and preterm birth in COVID-19-vaccinated women: a multicenter cohort study of vaccination uptake and perinatal outcomes. Am J Obstet Gynecol. 2023 May;228(5):585.e1-585.e16. doi: 10.1016/j.ajog.2022.10.040. Epub 2022 Nov 3. PMID: 36336084; PMCID: PMC9632261.
Hui L, Marzan MB, Potenza S, Rolnik DL, Pritchard N, Said JM, Palmer KR, Whitehead CL, Sheehan PM, Ford J, Mol BW, Walker SP. Increase in preterm stillbirths in association with reduction in iatrogenic preterm births during COVID-19 lockdown in Australia: a multicenter cohort study. Am J Obstet Gynecol. 2022 Sep;227(3):491.e1-491.e17. doi: 10.1016/j.ajog.2022.04.022. Epub 2022 Apr 19. PMID: 35452655; PMCID: PMC9017088.
Pynaker C, Johnston M, Mills C, Vasey K, Taylor-Sands M, Bowman-Smart H, Hui L. 'Screening should not be based on ability to pay': Australian healthcare providers' and consumers' perspectives on public funding for non-invasive prenatal testing. Aust N Z J Obstet Gynaecol. 2025 Jan 13. doi: 10.1111/ajo.13915. Epub ahead of print. PMID: 39803931.
Hammarberg K, Halliday J, Kennedy J, Burgner DP, Amor DJ, Doyle LW, Juonala M, Ranganathan S, Welsh L, Cheung M, McLachlan R, McBain J, Lewis S. Does being conceived by assisted reproductive technology influence adult quality of life? Hum Fertil (Camb). 2023 Dec;26(5):1008-1014. doi: 10.1080/14647273.2022.2042860. Epub 2022 Mar 22. PMID: 35317704.
Hui L, Halliday J. A decade of non-invasive prenatal screening in Australia: National impact on prenatal screening and diagnostic testing. Aust N Z J Obstet Gynaecol. 2023 Apr;63(2):264-267. doi: 10.1111/ajo.13638. Epub 2022 Dec 18. PMID: 36529142; PMCID: PMC10952159.
HUI L, Ellis K, Mayen D, Pertile MD, Reimers R, Sun L, Vermeesch J, Vora NL, Chitty LS. Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies. Prenat Diagn. 2023 Jun;43(7):814-828. doi: 10.1002/pd.6357.
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;56(2):215-224. doi: 10.1002/uog.21899.
Pynaker C, McCoy J, Halliday J, Lewis S, Amor DJ, Walker SP, Hui L; PALM cohort study group. Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study. BMC Pediatr. 2024 Aug 22;24(1):536. doi: 10.1186/s12887-024-05012-6. PMID: 39174956; PMCID: PMC11340052.