Improving First Trimester Screening By Combining Rapid MF-PCR Of PAP Smears With Nuchal Ultrasound Scanning
Funder
National Health and Medical Research Council
Funding Amount
$206,809.00
Summary
Genetic defects are the major cause of embryonic and foetal death as well as being responsible for a large proportion of childhood disabilities. Although many are detected by the ~50,000 prenatal tests currently performed annually in Australia, these methods are only offered to high risk mothers because they are invasive (~1% risk of miscarriage), and-or expensive. A rapid, low cost, less invasive and safer alternative prenatal diagnostic method such as PAP smears that could be offered to all mo ....Genetic defects are the major cause of embryonic and foetal death as well as being responsible for a large proportion of childhood disabilities. Although many are detected by the ~50,000 prenatal tests currently performed annually in Australia, these methods are only offered to high risk mothers because they are invasive (~1% risk of miscarriage), and-or expensive. A rapid, low cost, less invasive and safer alternative prenatal diagnostic method such as PAP smears that could be offered to all mothers regardless of risk is therefore of immense value both to mothers and to the health care system. This proposal enhances first trimester screening by improving prenatal diagnosis from PAP smears. Although normally taken to detect cancer, these smears contain significant numbers of foetal cells. We will investigate: the best way and time to obtain these cells, the best way to remove the cells from any contamination, improvements in genetic diagnosis of these cells using a technique known as MF-PCR which is rapidly revolutionising conventional prenatal diagnosis. By automating these procedures, they will become less expensive and more accessible to all mothers regardless of risk. We will also compare these procedures with alternative first trimester screening techniques such as nuchal translucency to determine the value of both tests singly and in combination. This research should provide a safe, reliable and accurate method allowing inexpensive prenatal screening to be available for all pregnancies. General screening programmes using this new test, particularly if combined with nuchal translucency programmes, would result in a dramatic reduction in affected babies with major implications to families and the health care system.Read moreRead less
I am an epidemiologist using high quality data collections and novel methods to generate new knowledge that will help reduce the impact or prevalence of birth defects and related disability.
There are new genetic technologies on the horizon that will influence decision-making about testing in pregnancy for fetal abnormality and also create a greater need for communication of important genetic information in families. Two areas of my research will focus on these issues. I will also examine how the interaction between genes and the environment during pregnancy, specifically in relation to alcohol use and assisted reproduction, impacts on offspring health and development
A significant proportion of Australian children are at health risk due to environmental metal exposure. It is suspected that exposure to metals during the prenatal period can result in permanent impairment. Human studies are, however, limited by lack of biomarkers that accurately measure exposure at specific times of intrauterine development. We are proposing to develop a novel method that utilizes human primary teeth to provide a direct measure of metal exposure during foetal development.
Disrupted Neurosteroid Synthesis Mediates The Adverse Effects Of Prenatal Stress
Funder
National Health and Medical Research Council
Funding Amount
$695,973.00
Summary
Maternal anxiety and related stress in pregnancy influences the fetus causing developmental changes that adversely affect the offspring leading to behavioural problems in childhood. However, mechanisms which transfer maternal changes to the fetus are unclear. We propose that disruption of the fetal-placental neurosteroid system is a major link. We will identify the deficits in this system caused by maternal stress and then examine therapies to reverse these disruptions.
Early Life Influences On Child And Adolescent Mental Health Problems
Funder
National Health and Medical Research Council
Funding Amount
$299,564.00
Summary
Many children experience mental health problems such as depression and anxiety, causing emotional pain for families and a huge economic cost for society. I aim to prevent these problems before they start. By identifying influences in a pregnant woman’s environment that might lead to mental health problems in her child, such as stress, fertility problems and environmental dangers, we can target these influences early and build positive mental health for children right from the very start of life.
Improving Communication And Informed Decision Making In Prenatal Screening And Diagnostic Testing Among Women And Couples With Lower Education And Literacy
Funder
National Health and Medical Research Council
Funding Amount
$329,115.00
Summary
It is widely accepted that women and couples should be given balanced information to help them make informed choices about undergoing tests to screen for, and diagnose, genetic conditions such as Down syndrome. Current information, however, requires high reading levels and is not suitable for low literacy groups. This research aims to develop and evaluate information to support women and couples with lower education and literacy in making informed choices about prenatal screening and testing.
Is Developmental Vitamin D Deficiency Associated With Autism-related Phenotypes: A Birth Cohort Study.
Funder
National Health and Medical Research Council
Funding Amount
$348,285.00
Summary
There is evidence that low vitamin D before birth may increase the risk of autism. This study will examine this hypothesis based on a Dutch birth cohort. If there is a link between vitami D and autism, then this can be readily addressed with prenatal supplements.
The Transgenerational Epigenetic Inheritance Of Parental Obesity
Funder
National Health and Medical Research Council
Funding Amount
$362,431.00
Summary
The current global epidemic of obesity and diabetes has partly been fuelled by the propagation of these diseases from parent to child across multiple generations. Successful completion of this study will provide hard evidence that there is an inborn but non-genetic component to the risk of obesity and provide insights into the mechanisms by which that risk is created and transmitted from both the mother and the father to the child.