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.
Childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort
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:
- 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.
- To measure the impact of a prenatal diagnosis of a CNV of unknown significance (VUS) on parental perceptions of their child.
- 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).
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).
Click here for more information.
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).
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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).
Click here for more information.
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.
- 'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications. 2019
- 'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing. 2019
- A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system. 2019
- American Heart Association ideal cardiovascular health score and subclinical atherosclerosis in 22-35-year-old adults conceived with and without assisted reproductive technologies. 2019
- Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthood. 2019
- 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. 2019
- Exome sequencing in infants with congenital hearing impairment: a population-based cohort study. 2019
- Fetal fraction and noninvasive prenatal testing: What clinicians need to know. 2019
- Health of adults aged 22 to 35 years conceived by assisted reproductive technology. 2019
- Noninvasive Approaches to Prenatal Diagnosis: Historical Perspective and Future Directions. 2019
- Should second-trimester hypoplastic nasal bone be sole indication for diagnostic testing with chromosomal microarray analysis? 2019
- State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study. 2019
- A comparison of Australian and French families affected by sarcoma: perceptions of genetics and incidental findings. 2018
- Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors. 2018
- Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era. 2018
- Cytomegalovirus (CMV) infection and pregnancy-potential for improvements in Australasian maternity health providers' knowledge. 2018
- Engaging pregnant women in observational research: a qualitative exploratory study. 2018
- Improving women's knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome - development and acceptability of a low literacy decision aid. 2018
- Long-term follow-up of ICSI-conceived offspring compared with spontaneously conceived offspring: a systematic review of health outcomes beyond the neonatal period. 2018
- Mapping the spectrum of prenatal alcohol effects with dense surface models of the face and brain. 2018
- Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development. 2018
- Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study. 2018
- Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing. 2018
- Population-based trends in ultrasound-indicated prenatal diagnosis from 1994 to 2016: two decades of change. 2018
- Prenatal and preimplantation genetic diagnosis for single gene disorders: A population-based study from 1977 to 2016. 2018
- Prenatal diagnosis and socioeconomic status in the non-invasive prenatal testing era: A population-based study. 2018
- Prenatal screening for fetal and obstetric complications: New opportunities and challenges. 2018
- Re: First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial. K. O. Kagan, R. Sroka, J. Sonek, H. Abele, K. Lüthgens, M. Schmid, P. Wagner, S. Brucker, D. Wallwiener and M. Hoopmann. Ultrasound Obstet Gynecol 2018; 51: 437-444. 2018
- Time- and sex-dependent associations between prenatal alcohol exposure and placental global DNA methylation. 2018
- What do pregnant women eat, and are they meeting the recommended dietary requirements for pregnancy? 2018
- What is the real "price" of more prenatal screening and fewer diagnostic procedures? Costs and trade-offs in the genomic era. 2018
- Young People Living at Risk of Huntington's Disease: The Lived Experience. 2018
- A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort. 2017
- Alcohol consumption in a general antenatal population and child neurodevelopment at 2 years. 2017
- Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age. 2017
- Clinical review of 24-35 year olds conceived with and without in vitro fertilization: study protocol. 2017
- Consumer Health Informatics Aspects of Direct-to-Consumer Personal Genomic Testing. 2017
- Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015. 2017
- First and second trimester screening for fetal structural anomalies. 2017
- Health outcomes of school-aged children conceived using donor sperm. 2017
- How should we deal with misattributed paternity? A survey of lay public attitudes. 2017
- Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening. 2017
- Long-term follow-up of intra-cytoplasmic sperm injection-conceived offspring compared with in vitro fertilization-conceived offspring: a systematic review of health outcomes beyond the neonatal period. 2017
- Maternal micronutrient consumption periconceptionally and during pregnancy: a prospective cohort study. 2017
- Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine. 2017
- Noninvasive prenatal testing for fetal aneuploidy and single gene disorders. 2017
- Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy. 2017
- Prenatal diagnostic testing and atypical chromosome abnormalities following combined first-trimester screening: implications for contingent models of non-invasive prenatal testing. 2017
- Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study. 2017
- "Did you ever drink more?" A detailed description of pregnant women's drinking patterns. 2016
- A comparison of sample collection methods for quantifying cell-free fetal neurodevelopment transcripts in amniotic fluid. 2016
- Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening. 2016
- Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study. 2016
- Neonatal vascularization and oxygen tension regulate appropriate perinatal renal medulla/papilla maturation. 2016
- Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication. 2016
- Population-based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state-wide data. 2016
- Socioeconomic Differences in Informed Decisions About Down Syndrome Screening: A Systematic Review and Research Agenda. 2016
- Spatially dense morphometrics of craniofacial sexual dimorphism in 1-year-olds. 2016
- "Suddenly Having two Positive People who are Carriers is a Whole New Thing" - Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia. 2015
- Clinical implementation of cell-free DNA-based aneuploidy screening: perspectives from a national audit. 2015
- Early clinical experience of cell-free DNA-based aneuploidy screening: A survey of obstetric sonologists in Australia and New Zealand. 2015
- How do prospective parents prefer to receive information about prenatal screening and diagnostic testing? 2015
- Increasing accurate self-report in surveys of pregnancy alcohol use. 2015
- It's complicated - Factors predicting decisional conflict in prenatal diagnostic testing. 2015
- National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell-free DNA aneuploidy screening. 2015
- Perinatal outcome after maternal primary cytomegalovirus infection in the first trimester: a practical update and counseling aid. 2015
- Preferences for results from genomic microarrays: comparing parents and health care providers. 2015
- Screening for Klinefelter syndrome. 2015
- 'No thanks'-reasons why pregnant women declined an offer of cystic fibrosis carrier screening. 2014
- Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening. 2014
- Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings. 2014
- Comparing indicators of health and development of singleton young adults conceived with and without assisted reproductive technology. 2014
- Developing programs for African families, by African families: engaging African migrant families in Melbourne in health promotion interventions. 2014
- Fetal alcohol spectrum disorder: development of consensus referral criteria for specialist diagnostic assessment in Australia. 2014
- Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention. 2014
- Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research. 2014
- Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure. 2014
- Study protocol: Asking QUestions about Alcohol in pregnancy (AQUA): a longitudinal cohort study of fetal effects of low to moderate alcohol exposure. 2014
- Trait anxiety, information modality, and responses to communications about prenatal genetic testing. 2014
- A modified Delphi study of screening for fetal alcohol spectrum disorders in Australia. 2013
- Alcohol-use disorders during and within one year of pregnancy: a population-based cohort study 1985-2006. 2013
- Considerations for reporting genome results to patients. 2013
- Constitutive and relative facultative skin pigmentation among Victorian children including comparison of two visual skin charts for determining constitutive melanin density. 2013
- Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions. 2013
- Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. 2013
- High school Tay-Sachs disease carrier screening: 5 to 11-year follow-up. 2013
- Implementation of written consent for newborn screening in Victoria, Australia. 2013
- Involving consumers and the community in the development of a diagnostic instrument for fetal alcohol spectrum disorders in Australia. 2013
- Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia. 2013
- Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement. 2013
- Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population. 2013
- Recommendations from a consensus development workshop on the diagnosis of fetal alcohol spectrum disorders in Australia 2013
- Respiratory physicians and clinic coordinators' attitudes to population-based cystic fibrosis carrier screening. 2013
- The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research. 2013
- Why do people choose not to have screening for hemochromatosis? 2013
- "It's about having the choice": Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome. 2012
- An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. 2012
- Consensus diagnostic criteria for fetal alcohol spectrum disorders in Australia: a modified Delphi study. 2012
- Health professionals' perceptions about the adoption of existing guidelines for the diagnosis of fetal alcohol spectrum disorders in Australia. 2012
- ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible. 2012
- Outcomes for offspring of men having ICSI for male factor infertility. 2012
- Outcomes of singleton births after blastocyst versus nonblastocyst transfer in assisted reproductive technology. 2012
- Use and non-use of genetic counseling after diagnosis of a birth defect. 2012
- Acardia: Epidemiologic Findings and Literature Review From the International Clearinghouse for Birth Defects Surveillance and Research 2011
- Ethical Issues in Recruiting Prenatally Diagnosed Adults for Research: Klinefelter Syndrome as an Example. 2011
- Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART 2011
- Postnatal screening for Klinefelter syndrome: is there a rationale? 2011
- Prevalence at Birth of Cleft Lip With or Without Cleft Palate: Data From the International Perinatal Database of Typical Oral Clefts (IPDTOC) 2011
- The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison 2011
- The psychosocial impact of Klinefelter syndrome and factors influencing quality of life 2011
- Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY. 2011
- Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome. 2010
- University of Melbourne
- Monash University
- La Trobe University
- Mercy Health
- Monash Health
- Royal Women’s Hospital
- Monash Children's Hospital
- Melbourne IVF
- Monash IVF
- Monash Ultrasound for Women
- Andrology Australia
- University of Sydney
- University of NSW
- University of Western Australia
- James Cook University
- Sydney Children's Hospital, Randwick
- The Children's Hospital at Westmead
- Queensland Children's Hospital
- Women's and Children's Hospital, Adelaide
- Perth Children's Hospital