None listed
Conditions
Brief summary
Approximately one percent of pregnancies result in a death during the perinatal period, which extends from 20 completed weeks of gestation until 28 days after birth. The causes of unexpected death during this period range from obvious gross structural abnormalities, placental dysfunction and transplacentally-acquired infections, to cases where there is no apparent reason for the early demise of the fetus or neonate. A percentage of these perinatal deaths that have no detectable gross structural abnormalities may, for example, occur due to underlying cardiac channelopathies, cardiomyopathies and potentially, some forms of epilepsy. Such conditions at a development stage may not leave any clinically significant characteristics at autopsy such as histological abnormalities detectable with light microscopy or anatomical changes normally observed with MRI. In essence, this study is an extension to the usual genetic analysis component of our perinatal autopsy protocol, enabled by a new technology that is currently maturing. Thus, the rationale of this trial is to provide more information on the cause of perinatal death and improve the clinical management of families whose babies have died during the perinatal period.
Interventions
It is planned to perform Whole Genome Sequence (WGS) testing on the DNA samples of approximately 100 infants where autopsy findings where indeterminate, as well as their parents (a ‘trio analysis’) to further elucidate the cause of death. In its raw form, the WGS data output will provide information on all 6 billion nucleotides from both nuclear and mitochrondrial DNA. This data will then to be interrogated using a validated bioinformatics approach to determine the relevance of such information
It is planned to perform Whole Genome Sequence (WGS) testing on the DNA samples of approximately 100 infants where autopsy findings where indeterminate, as well as their parents (a ‘trio analysis’) to further elucidate the cause of death. In its raw form, the WGS data output will provide information on all 6 billion nucleotides from both nuclear and mitochrondrial DNA. This data will then to be interrogated using a validated bioinformatics approach to determine the relevance of such information to firstly known causes of perinatal death and later, to causes that have not been directly linked with perinatal death
Sponsors
Mater Health Services
Eligibility
Sex/Gender
All
Age
0 to 28 Days
Healthy volunteers
Yes
Inclusion criteria
Criteria for Inclusion – Perinatal Cases: 1. Perinatal death occurring at Mater Mother’s Hospital between 2010 and 2014; 2. After attempting to contact both parents, minimally one parent has been contacted after 3 attempts and is willing to participant in this clinical trial Criteria for Inclusion – Biological Parent Participants: 1. A baby (from 20 weeks gestation to 28 days postpartum) who passed away at Mater Mother’s Hospital between 2010 to 2014 2. Able to attend at least the initial study visit for informed consent and blood collection 3. Important medical information pertaining to the deceased infant is part of the mother’s medical notes
Exclusion criteria
Criteria for Exclusion – Perinatal Cases: 1. Coronial Case 2. Insufficient or inadequate DNA sample 3. Only the father is contactable and critical medical information about the deceased infant resides in the mother’s medical notes. 4. One parent refuses permission for their child’s DNA to be used for the study. Criteria for Exclusion – Biological Parent Participants: 1. A baby (from 20 weeks gestation to 28 days postpartum) who passed away at Mother Mother’s Hospital between 2010 and 2014 that was/is the subject of a coronial investigation 2. A concurrent condition that may limit the decision-making capabilities of the participant during the informed consent process 3. Blood Donation of >450ml within 30 days of the initial study visit
Outcome results
None listed