Clinical utility of genomics in perinatal autopsy

Background

Melbourne Genomics’ 16 Clinical Flagships have been at the forefront of determining when genomic testing makes a demonstrable difference to the safety and quality of patient care.

In Victoria, a state-wide service investigates the deaths of babies who die during pregnancy or early infancy (the Victorian Perinatal Autopsy Service, VPAS).

Parents’ distress at the loss of a baby is often exacerbated by not knowing the exact cause, as well as uncertainty about the chance of the same condition occurring in future pregnancies.

Project description

The objective: to determine if genomic sequencing can be incorporated into post-mortem examination by skilled pathologists, and whether this process results in more parents getting an answer about the cause of their baby’s condition.

The project also investigated whether being able to offer sophisticated genomic testing during pregnancy could have been helpful in finding the cause of an infant’s condition before birth.

The Perinatal Autopsy Flagship was led by Dr George McGillivray and Dr Jackie Collett (both from The Royal Children’s Hospital). Flagship clincian Dr Fiona Chan provided key coordination, with at least 24 medical professionals were directly involved.

Activities, outcomes and lessons learnt

Findings from this project will be made available following publication of results.

Clinical Flagship team