A Randomised Controlled Trial Of A Decision Aid For Prenatal Screening And Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$269,625.00
Summary
Prenatal screening is becoming increasingly available to pregnant women in many countries, including Australia, to test for Down syndrome and other chromosomal disorders as well as neural tube defects. Almost half the pregnant women in Victoria are now undergoing prenatal screening. Inherent in all screening tests is the possibility of false positive or false negative results. More than 5% of all women undergoing prenatal screening are likely to receive false positive results and must decide whe ....Prenatal screening is becoming increasingly available to pregnant women in many countries, including Australia, to test for Down syndrome and other chromosomal disorders as well as neural tube defects. Almost half the pregnant women in Victoria are now undergoing prenatal screening. Inherent in all screening tests is the possibility of false positive or false negative results. More than 5% of all women undergoing prenatal screening are likely to receive false positive results and must decide whether to put the pregnancy at risk of miscarriage, or a possible pregnancy termination, as a result of the necessary follow-up invasive diagnostic test. Many women do not realise they may have to face this decision. Others are not aware that their baby may be born with undiagnosed problems even if they have the screening test. One aspect of care that is likely to have a crucial influence on women's experience of screening is how much they are informed about a test prior to undergoing it. Most women visit a GP early in the first trimester of pregnancy. This visit provides an opportunity for information provision about prenatal screening. Decision aids have been developed as adjuncts to practitioners' counselling to prepare patients for decision-making. In this project we will be developing a decision aid for women considering their prenatal screening options. A randomised controlled trial will compare the efficacy of a general educational pamphlet to that of a tailored decision aid in preparing women for decision-making about prenatal screening. A total of 500 women who are less than 11 weeks pregnant and are attending one of 50 GPs will be included. Self-report questionnaires will be used to assess women immediately after use of the educational materials and then again at 24 weeks of pregnancy. The impact of the educational materials on informed choice, decisional conflict, anxiety, depression and uptake of prenatal screening tests will be compared.Read moreRead less
Improving Maternal And Infant Outcomes: A Multicentre Randomised Controlled Trial Of Midwifery And Dental Intervention
Funder
National Health and Medical Research Council
Funding Amount
$457,724.00
Summary
Poor oral health during pregnancy can impact the health of the mother and baby. Yet, many expectant mothers are unaware of the implications of poor oral health. In Australia there is a lack of importance being placed on maternal oral health. The aim of this study is to determine the effectiveness of a new service which will promote maternal oral health through collaboration between midwives and dentists. We expect the new service will improve women's oral health, uptake of dental services and po ....Poor oral health during pregnancy can impact the health of the mother and baby. Yet, many expectant mothers are unaware of the implications of poor oral health. In Australia there is a lack of importance being placed on maternal oral health. The aim of this study is to determine the effectiveness of a new service which will promote maternal oral health through collaboration between midwives and dentists. We expect the new service will improve women's oral health, uptake of dental services and potentially improve pregnancy outcomes.Read moreRead less
Towards Adequate National Provision Of Genomic Testing In Pregnancy
Funder
National Health and Medical Research Council
Funding Amount
$515,493.00
Summary
Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential ....Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential legal and policy changes in Australia.Read moreRead less
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.
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
Nigel G Laing, NH&MRC Principal Research Fellowship: Neurogenetics – Gene Discovery, Pathobiology, Novel Therapeutics, Novel Diagnostics And Translation.
Funder
National Health and Medical Research Council
Funding Amount
$880,454.00
Summary
My Fellowship will expand my work identifying diseases genes for genetic muscle and nerve diseases by using new technologies that allow discovery of human disease genes which could not be found before. In addition, since we now have proof from mouse studies that heart actin is a target for therapy for the group of diseases that we discovered caused by mutations in the muscle actin protein, we shall take further steps towards making this therapy a reality for patients.
Identification Of Genetic Defects In Muscle Contractile Proteins
Funder
National Health and Medical Research Council
Funding Amount
$167,167.00
Summary
Congenital myopathies are a group of mostly inherited disorders which cause muscle weakness from birth. Some congenital myopathies can lead to the early death of the affected child, while other types are compatible with reaching adulthood. Like any diseases of childhood, the congenital myopathies cause great trauma to the families with an affected child. Couples at risk of having another affected child often opt to wait for prenatal diagnosis to become available for their particular disease befo ....Congenital myopathies are a group of mostly inherited disorders which cause muscle weakness from birth. Some congenital myopathies can lead to the early death of the affected child, while other types are compatible with reaching adulthood. Like any diseases of childhood, the congenital myopathies cause great trauma to the families with an affected child. Couples at risk of having another affected child often opt to wait for prenatal diagnosis to become available for their particular disease before attempting to have further children. However, prenatal diagnosis is only possible once the gene causing a disorder and the mutation in an individual family are identified. Identifying the disease-causing mutation may help the common feelings of guilt in the parents if it can be shown that the affected child has a new mutation, and there is nothing the parents could have done to stop their child having the disease. In the past, this Laboratory, the Molecular Neurogenetics Laboratory at the Australian Neuromuscular Research Institute, amongst others, has identified disease genes for the congenital myopathies. Prenatal diagnosis is now possible for those families whose disease-causing mutation has been identified. However the genetic cause of most of the congenital myopathies remains unknown. This Laboratory has become a reference centre for genetic studies of the congenital myopathies, especially the major form called nemaline myopathy. DNA samples have been sent here from around the world for study. This project aims to study this DNA, to identify other disease genes causing the congenital myopathies in order to help the families at risk with these conditions who currently cannot have prenatal diagnosis. Finding the genes also increases understanding of the diseases. It clarifies which proteins are involved. It allows studies of the mutated proteins to be undertaken. It makes it possible to understand how the diseases arise allowing future treatment of the conditions.Read moreRead less
Antenatal Screening For Fetal Anomalies In Indigenous Women: Views Of Indigenous People And Their Health Care Providers
Funder
National Health and Medical Research Council
Funding Amount
$373,204.00
Summary
This project aims to investigate the views of Indigenous women, their families and health service providers about antenatal screening tests for abnormalities like Down syndrome. This will contribute knowledge about why there is low uptake of screening amongst Indigenous women, and whether changes in the provision of antenatal care are required. This is important because all women, regardless of their culture or location, should be offered the same opportunities and care during pregnancy.
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.