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
Maternal Anxiety In Pregnancy And Infant Bio-behavioural Regulation: Testing The Fetal Programming Hypothesis
Funder
National Health and Medical Research Council
Funding Amount
$577,896.00
Summary
Recent research shows that maternal anxiety in pregnancy is associated with emotional and behaviour problems in childhood. This project examines the impact of anxiety during pregnancy on infant capacity to regulate behaviour, sleep and physiological response to stress and also considers possible genetic contributions. Findings address the earliest origins of mood and behaviour disorders in children and will inform evidence-based interventions during the perinatal period.
Inherited Muscle Disorders - Gene Discovery, Pathobiology And Therapy.
Funder
National Health and Medical Research Council
Funding Amount
$1,750,277.00
Summary
The project proposed by Professors Nigel Laing and Kathryn North and Dr Kristen Nowak is based upon the results of their successful identification of disease genes for genetic muscle diseases. The project is divided into three parts. In the first part of the project, the research team will identify further novel disease genes, some of which they are already close to finding. In the second part of the project the team will determine how the mutations they have identified in the disease genes actu ....The project proposed by Professors Nigel Laing and Kathryn North and Dr Kristen Nowak is based upon the results of their successful identification of disease genes for genetic muscle diseases. The project is divided into three parts. In the first part of the project, the research team will identify further novel disease genes, some of which they are already close to finding. In the second part of the project the team will determine how the mutations they have identified in the disease genes actually cause the diseases. The aim of this work is to discover targets that may ultimately lead to new therapies for these muscle diseases. In the third and final part of the project, the team will pursue one possible therapeutic approach, which is based upon the understanding of the diseases the researchers have gained from their previous studies. There are currently no cures for these muscle diseases, though symptoms can be treated. The team will determine whether heart actin can replace muscle actin in skeletal muscle and thus might treat the muscle disease.Read moreRead less
PROTECTING THE PRETERM FETAL BRAIN FROM HYPOXIA AND INFECTION: A HEALTHY START TO LIFE.
Funder
National Health and Medical Research Council
Funding Amount
$495,750.00
Summary
Brain damage during fetal life is a significant cause of later neurological problems such as cerebral palsy. Recent studies have shown that brain injury detected in infants is usually caused by adverse conditions within the uterus prior to labour, but the exact causes are poorly understood. It is also apparent that babies born prematurely are at increased risk of suffering serious brain damage. In recent years it has become evident that infections in the mother may be linked to both premature bi ....Brain damage during fetal life is a significant cause of later neurological problems such as cerebral palsy. Recent studies have shown that brain injury detected in infants is usually caused by adverse conditions within the uterus prior to labour, but the exact causes are poorly understood. It is also apparent that babies born prematurely are at increased risk of suffering serious brain damage. In recent years it has become evident that infections in the mother may be linked to both premature birth and brain damage. It has been proposed that certain chemicals (cytokines), which are released during an infection, can cross the placenta to the fetus causing inflammatory changes that lead to brain damage. We have shown that an inflammatory inducing chemical (bacterial endotoxin) administered to immature fetal sheep induces brain damage similar to that seen in cerebral palsy. This provides an excellent model for testing agents that are known to block the action of cytokines and other markers of inflammation; currently there is no effective strategy for the treatment or prevention of hypoxia and inflammatory induced injury of the brain partly due to our ignorance about how and when the damage is occurring. We will test the effects of two chemicals; N-acetyl cysteine, which is known to block the generation of inflammatory cytokines, and the naturally occurring glycoprotein erythropoietin, which prevents death of neurons (apoptosis). We hope that by blocking these pathways we may be able to prevent brain injury from occurring when the immature fetus is exposed to an infection during gestation. We expect that this project will provide important novel information that helps us to understand how infection in the mother can cause brain injury in the fetus and provide a new approach for strategies to prevent or treat brain injury.Read moreRead less
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