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Reproductive Epidemiology

The Public Health Genetics 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, 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 30 years, the group has published research that has informed service provision and policy, and provided relevant, accurate information to the community. Most recently, the team published 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: 
Group Members: 
Joanne Kennedy
Research Assistant

AQUA - Alcohol Use in Pregnancy: what questions should we be asking?
This four-year project funded by the National Health and Medical Research Council 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 have completed a questionnaire in each trimester of pregnancy, including a specifically developed and tested set of questions on alcohol intake. Participants also completed a questionnaire when their baby was one year old, and again when the child turned two, focused on the health and development of their child. Many participants have also provided biological samples. A large sample of participants were invited to have 3D photographs taken of their baby's face and head at 12 months, and have been given a developmental assessment at two years of age. The analysis included key covariates to help explain a potential association between prenatal alcohol exposure and selected outcomes for the child. See for more information.

CHART Study - Clinical review of the Health of 24-35 year olds conceived using Assisted Reproductive Technologies
A large number of young adults have been conceived via assisted reproductive technologies (ART). The use of these technologies continues to increase. 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 be in a specific risk category because of the techniques used to enable successful ART pregnancies. This project aims to investigate the heart and lung health of young adults aged 24 to 35 years, who were conceived using ART in Victoria. The results will be compared to other young adults who were conceived naturally. By examining these young adults the researchers will address a shortfall in our knowledge of the long-term health implications of ART and generate information that may have widespread biological and clinical implications. See for more information.

GaP Study – Genomics and Pregnancy
The aim of the GaP study is to provide those having prenatal diagnostic testing with a choice about the amount and type of genetic information they receive from their prenatal test about their unborn baby. The current practice does not provide parents with such a choice. There are people who like to have all the information they can about their pregnancy, even if this information is uncertain. For other people, such uncertainty is difficult to deal with, and they would rather not know. The GaP study is about letting pregnant women and partners choose how much information to receive. The options are ‘targeted’, where only the information that will affect health is provided, or ‘extended’, where all information, even the uncertain aspects, is provided.

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 Public Health Genetics group. For more information, please go to

Evaluation of genetic health services related to prenatal diagnosis and screening for birth defects 
We keep an updated record of information related to all prenatal diagnostic tests done in Victoria, provided by the cytogenetics labs who analyse the tests. Information includes, but is not limited to, the clinical indications for testing (e.g., abnormal results from first trimester combined screening or non-invasive prenatal testing (NIPT), ultrasound abnormality), the procedures used to collect fetal DNA (e.g. CVS or amniocentesis), the technologies used to analyse that sample (i.e. karyotype or chromosome microarray (CMA)) and the test outcomes. These data are collated and analysed in order to produce a yearly report. Data on 38 years of collection have been published recently (see publication). The results of this project help inform policy and future test development, as well as provide new insights that will assist with pre-test counselling. 
We have also developed a booklet about choices available and a decision aid for women to use when thinking about which type of genetic tests to have in pregnancy.

The prenatal diagnosis database also forms the basis of much research: a) Perinatal record linkage study (PeRL) to evaluate outcomes of all screening tests including NIPT, having received data from all commercial and hospital-based service providers in Victoria; (see publication) b) Trends in prenatal diagnostic testing for single gene disorders; c) Ultrasound indicated prenatal diagnosis, CMA and outcomes; d) Factors influencing diagnosis of common fetal trisomies; e) Population-based trends in the prenatal diagnosis of sex chromosome aneuploidies before and after NIPT. (See publication)