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Reproductive Epidemiology

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: 
Joanne Kennedy
Research Assistant
Anne Glynn
Research Assistant
Dr Sarah Catford
Research Associate (off campus)
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).

Click here for more information.

Health of adults conceived with Assisted Reproductive Technologies (ART)

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 be in a specific risk category because of the techniques used to enable successful pregnancies. The aim of this project was to investigate the heart and lung health of almost 200 adults aged 24 to 35 years, who were conceived using ART in Victoria. The results were compared to 80 other adults who were conceived naturally. By undertaking various clinical assessments and additional epigenetic analyses,  we have addressed a shortfall in knowledge of the long-term health implications. This study was funded by a NHMRC Project grant (NHMRC APP1099641).

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Following on from this research, recently published, we are now inviting all 800 eligible adults from the original study to complete an online survey. This survey will ask questions about general physical health, diet and lifestyle habits, relationships, fertility and wellbeing.

Health and fertility of young Men conceived using ICSI (HIM Study)

This project aims to learn more about the health, development, wellbeing and fertility of young men conceived using intracytoplasmic sperm injection (ICSI), whose fathers either had a problem with sperm production or a blockage preventing the passage of sperm. A number of studies have assessed the health and development of ICSI-conceived children, but only one study so far worldwide has evaluated ICSI-conceived young adults aged more than 18 years.

We think it is extremely important to evaluate the health and fertility of young men conceived using ICSI because it is being used more and more frequently. More knowledge in this area will help us better inform couples who are struggling with infertility and assist fertility specialists worldwide. This study was funded by a NHMRC Partnership Project grant (NHMRC APP1140706).

Click here for more information. 

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. Click here for more information. 

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. This is currently being updated to a web-based app in collaboration with James Cook University and Curve Tomorrow.

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)

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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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.

Click here for more information.