New Prenatal Screening Test Helps Expectant Parents Know Causes Behind Serious Pregnancy Complications

A breakthrough prenatal screening test has been developed that could help expectant parents know the causes behind serious pregnancy complications including miscarriage and foetal death.

Researchers from the Victorian Clinical Genetics Services at the Murdoch Children’s Research Institute and Illumina’s Northern California Services Laboratory have embarked in what is described to be the biggest study of its type in the world as they examine the pregnancies of 90,000 women through this new revolutionary prenatal screening test.

Researchers say this non-invasive prenatal test offers a 99 per cent accuracy rate for detecting Down syndrome from 10-week gestation.

Previously, the method has screened only for the most common trisomies, a genetic disorder in which a person has three copies of a chromosome instead of two, focusing on about three to five particular chromosomes.

However, in this major medical breakthrough, the researchers expanded the scope of the traditional non-invasive prenatal blood test, screening up to 24 chromosomes and identifying rare genetic disorders.

Dr Mark Pertile, Victorian Clinical Genetics Services head of reproductive genetics, explained that this could help pregnant women know more about their pregnancy.

“Expanding the non-invasive prenatal test to include all chromosomes can provide women with never before available information about the health of their pregnancy,” he said.

“What the research found was missing or extra copies of these chromosomes can result in serious pregnancy complications including miscarriage, fetal growth restriction and spontaneous fetal death.”

Dr Pertile said in some cases, only the placenta was affected by the rare trisomy and not the baby, yet this could still affect the mother’s pregnancy.

During pregnancy, some genetic material pass from the placenta into the mother’s bloodstream. This genetic material can be tested using non-invasive prenatal testing to give important information on a pregnant woman’s health.

“This may help doctors in monitoring pregnancies at increased risk for complications such as fetal growth restriction and may also provide a reason for why some pregnancies have miscarried,” Dr Pertile said.

“What we found anecdotally was that some patients were very grateful to find a reason why their pregnancies had miscarried.”

The Murdoch Children’s Research Institute is the only centre in Australia that provides the advanced screening to about 15,000 women each year.

However, Dr Pertile hopes this will increase in the future.

Source: Essentialbaby.com.au