Home  »  For professionals  »  Project portfolio  »  Evaluating clinical utility of genomics in care  »  Clinical utility of genomics in perinatal autopsy

Clinical utility of genomics in perinatal autopsy

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




Name

Organisation

Role

George McGillivray

RCH/MCRI

Clinical geneticist

Jacquelene Collett

RCH

Anatomical pathologist

Fiona Chan

RCH

Anatomical pathologist

Alison Yeung

Monash Health/RCH/MCRI

Clinical geneticist

Anand Vasudevan

UoM/RWH

Clinical geneticist

Anna Jarmolowicz

MCRI/VCGS

Genetic counsellor

Beena Kumar

Monash Health

Anatomical pathologist

Elske Posma

UoM/RWH

Maternal foetal medicine obstetrician

Gemma Brett

MCRI/VCGS

Genetic counsellor

Giulia Valente

Austin Health

Genetic counsellor

Heather Chalinor

Austin Health

Genetic counsellor

Ian Simpson

Monash Health

Anatomical pathologist

Jan Pyman

RCH/RWH

Anatomical pathologist

Kerryn Ireland-Jenkin

Austin Health

Pathologist

Mark Teoh

Monash Health

Foetal diagnostic ultrasound specialist and obstetrician

Matthew Hunter

Monash Health

Clinical geneticist

Natasha Brown

MCRI/VCGS

Clinical geneticist

Sam Ayres

MCRI/VCGS

Genetic counsellor

Sue Walker

UoM

Maternal foetal medicine obstetrician

Susan White

RCH/MCRI

Clinical geneticist

Trishe Leong

Austin Health

Anatomical pathologist

Yael Prawer

Monash Health

Genetic counsellor

Yuen Chan

Monash Health

Pathologist

Zornitza Stark

MCRI/VCGS

Clinical geneticist