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Reproductive Epidemiology

Pregnant mother with daughter

The Reproductive Epidemiology group researches the monitoring and evaluation of current and emerging genetic technologies, particularly related to prenatal diagnosis and population screening for genetic disorders.

It also studies the use and communication of genetic information in families. A third area of investigation is the integration of genetic, epigenetic, environmental and socio-demographic factors in prenatal exposures such as assisted reproductive technologies (ART) or alcohol, and the impact this has on the health and wellbeing of infants, children and young adults.

Researchers are skilled in epidemiology, maternal and fetal medicine, health services research and the science of genetics, as well as 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. Having monitored prenatal diagnostic testing in Victoria for over 30 years, the group has published research that has informed service provision and policy, and provided relevant, accurate information to the community. The team has been publishing world-first findings on the health of young adults conceived by ART, demonstrating an overall safety of the procedures.

In another major study, researchers are examining the health and wellbeing of children exposed to low to moderate levels of alcohol in pregnancy using novel, early markers of development, while taking into account maternal and infant genetics and epigenetics as well as lifestyle and other health-related determinants of child development. 

Group Leaders: 
Team Leaders: 
Group Members: 
Jacqui McCoy
Research Assistant
Cecilia Pynaker
Research Assistant
Dr Sarah Catford
Research Associate (off campus)

Browse all active projects being worked on as part of the Reproductive Epidemiology group below

Research project 1
Prenatal screening and diagnosis for fetal chromosome conditions

The Reproductive Epidemiology group manages 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 was established by Professor Jane Halliday and has been in continuous operation since the 1980s, representing one of the longest running population-based prenatal data collections in the world. For more information about our world-leading research in prenatal screening and diagnosis, and to access the Annual Report on Prenatal Diagnostic Testing in Victoria, click on 'View project'.

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Research project 2
Childhood outcomes of genomic copy number variants: The PrenatAL Microarray cohort (PALM study)

The rapid explosion of genomic testing in pregnancy means that families have more information about their child’s genetic make-up than ever before. The clinical challenge is the management of genetic variations identified during pregnancy where the significance is unclear. This study will establish and follow up a Victorian cohort of children who had a prenatal diagnosis of a genomic copy number variant (CNV) from 2013-2019. Children aged 12 months to 7 years will be assessed for developmental, social-emotional and health outcomes using validated, age-appropriate measures.

The aims of this study are:

  1. To clinically review the developmental, social-emotional and health status of children with prenatal CNVs and compare to children with normal prenatal chromosome microarray (CMA) results.
  2. To measure the impact of a prenatal diagnosis of a CNV of unknown significance (VUS) on parental perceptions of their child.
  3. To determine the proportion of prenatally-ascertained VUS that are reclassified as benign or pathogenic after 2 or more years.

This study is being funded by a NHMRC Clinical Trials and Cohort Studies grant (NHMRC APP1186862).

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Research project 3
Australian Male Infertility Exposure (AMIE) Study

Infertility is common. About 30,000 couples seek help to have a baby each year in Australia. What most people don’t know is that in about half the couples needing help, it is the man that has a fertility issue.

The causes of infertility in the majority of men are still a mystery. There is some evidence that lifestyle and environmental exposures have something to do with it, but the research is limited.

This study aims to: get a better understanding of the lifestyle and environmental risk factors for unexplained male infertility. We will be asking 2,000 men from Australian IVF Clinics to take part in this study. The results of this study will help inform better prevention and treatment strategies. Find out more about AMIE.

This study is funded by the Medical Research Futures Fund Emerging Priorities and Consumer Driven Research Initiative (EPCD000007 )

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Research project 4
Assisted Reproductive Technologies (ART) and the long-term health of offspring

Assisted Reproductive Technologies (ART) were pioneered in Victoria and therefore 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. By undertaking surveys, various clinical assessments and epigenetic analyses, we have addressed a shortfall in knowledge.

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Research project 5
Australian Hand Differences Register (AHDR)

The AHDR is a database of information about children in Australia who were born with a hand or arm difference. The AHDR aims to:

  • find out how many children are born with a hand / arm difference in Australia
  • learn more about possible causes and risk factors
  • gain information to help plan services
  • identify possible participants for future research

The AHDR is managed by researchers in the Reproductive Epidemiology group.

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Research project 6
AQUA - Alcohol Use in Pregnancy: what questions should we be asking?

This project, funded by NHMRC, has compared possible effects of low or moderate alcohol consumption during pregnancy with not drinking any alcohol at all. The study recruited 1,570 participants who completed a questionnaire in each trimester of pregnancy, including a specifically developed and tested set of questions on alcohol intake. Data have been collected via questionnaires and various clinical assessments of the children from two years of age. These findings are now published. Click here for more information.

The children are currently being followed up at 6-7 years of age, having further neurodevelopmental assessments, 3D facial imaging and brain MRI. This study is funded by a NHMRC Partnership Project grant (NHMRC APP1146635).

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Research project 7
Victorian Fetal Alcohol Spectrum Disorder (FASD) Special Interest Group

One outcome of the AQUA research was the establishment of the Victorian Fetal Alcohol Spectrum Disorder Special Interest Group (VIC FASD SIG). Commencing in 2017, this group provides opportunities for professionals, families and researchers to connect and collaborate to build capacity to prevent, diagnose, understand and respond to FASD in Victoria. Membership is open to anyone who lives or works in Victoria with an interest in FASD.

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