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7th July 2022 Pregnancy And Birth

Finding the answers to unexplained pregnancy loss

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An unexplained pregnancy loss is every mother’s worst nightmare.

The unknowns, the unanswered, what could have been and what is left behind.

Scientists will never give up hope in finding answers for these families.

And now, The Hospital Research Foundation (THRF) Group is pleased to be providing a $98,000 grant to advance this work through a project aimed at looking deeper into the genetic makeup of the placenta.

Leading the project is Professor Hamish Scott, Head of the Genetics and Molecular Pathology Department at SA Pathology and affiliated with the Centre for Cancer Biology.

Prof Scott said that in cases with congenital abnormalities, a genetic cause has likely been identified. However in foetuses without associated abnormalities, there are still many questions.

“We want to investigate further to see if there are any genetic defects in the placenta that contribute to the loss of these pregnancies,” Prof Scott said.

“Since the placenta is the source of nutrients and oxygen for the developing baby and placental dysfunction is a known cause of foetal loss, we think that genetic defects confined to the placenta will explain a subset of the unexplained cases of pregnancy loss.”

Tragically, 282 women experience a miscarriage and six babies are stillborn every day in Australia.

An MRFF (Federal Government) grant has been supporting this project, and THRF Group’s additional funding will help the team access newer, advanced technologies overseas to dig deeper into this genetic puzzle.

Prof Scott can now collaborate with a renowned group at the Radboud University Nijmegen Medical Centre in The Netherlands which has expertise in identifying rare disease genes using the latest genomics equipment.

“A key feature of this project is a process called optical genome mapping (OGM) which will provide an advanced analysis on the placental samples using the University’s special Bionano Saphyr system.

“This may identify genomic variations missed by other gene sequencing systems.”

THRF funds will also ensure placental samples can be collected and stored in the necessary timeframe, and with their DNA integrity maintained.

“We are very grateful for the support of The Hospital Research Foundation Group to help us find answers to these devastating losses,” Prof Scott said.

“This work will not only provide families with much-needed answers, but also insight into the genes pivotal to placental growth and implantation, as well as options to help prevent pregnancy loss in the future.”