A Clinical Validation Study to Determine Whether Whole Genome Sequencing (WGS) can Assist with Autopsy Findings for Families who have Experienced a Perinatal Death Without any Definitive Cause

Not Applicable

• Conditions: Genetic Causes of Perinatal Death; Human Genetics and Inherited Disorders - Other human genetics and inherited disorders

• Registration Number: ACTRN12614000773639
• Lead Sponsor: Mater Health Services

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2014-07-21
• Last Update Posted: 13 January 2020

Recruitment & Eligibility

• Status: Stopped early
• Sex: All
• Target Recruitment: 300

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

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To perform a complete genomic sequence on up to 100 perinatal cases which have previously undergone a comprehensive autopsy, as well as their parents (‘trio analysis’). Following bioinformatics interrogation of the trio data, comparison with a wide range of databases and correlation with the autopsy findings, significant test results (of gene variants) will be validated using standard clinical diagnostic procedures such as the Sanger sequencing technique. [3 months following recruitment];Computation genomce analysis (Cga) tools will be used to identify variants of interest that will be filtered by attributes pertaining to inheritance, coding DNA sequence, donor, acceptor and impact to investigate variants observed in parents and their offspring. Comparisons will then be made against the Wellderly database to ascertain the level of clinical significance to assign to any unusual genetic characteristics.[3 months following recruitment]

Secondary Outcome Measures

Name	Time	Method
To assess the effect of the Whole Genome Sequencing (WGS) results on the original perinatal autopsy findings and whether this result contributes towards our understanding of the cause of death, and thus impacts on the management of future pregnancies.[3 months following recruitment]