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The Australian National Genomic Autopsy Study: A Summary of Results, Outcomes and Instructive Families from 413 Trios/Quads
- The devastating impact that pregnancy loss or the death of the newborn has on families is often compounded by uncertainty around the cause of death and therefore uncertainty around the risk of recurrence in future pregnancies
- The Australian genomic autopsy study undertook comprehensive trio/quad genomic testing on over 400 nationally referred couples and demonstrated that adding a genomic approach to the first line of investigation provided outright answers to 21%. Another 26% had reportable variants of uncertain significance, of high clinical suspicion
- Identifying a genomic cause provides reproductive options for families
