PhD researcher maps prenatal screening uptake across socioeconomic groups

In Australia, there are three main types of prenatal screening available, the combined first trimester screening, second trimester serum screening, and the newer, non-invasive prenatal testing (NIPT). While the first two options are partially subsidised or free in public hospitals, NIPT costs $400 to $500 out-of-pocket.

"I've heard from friends and family that in the first few months alone, you can easily spend $1,500 on ultrasounds, tests, and doctor visits," Cecilia explained. "It's something people might not know about before they conceive, especially considering you'd rather be spending that money on baby clothes and nappies."

For people in regional areas, the true cost of prenatal screening is often higher because they need to travel further to hospitals or specialised clinics to access services and may need additional time off work.

Screening tests offered in early pregnancy estimate the chance that a baby may have a chromosome condition such as Down syndrome. If the chance is increased, further diagnostic tests can be offered to provide more definite information. This helps clinicians and genetic counselors explain to parents the likely health outcomes for their baby and offer management options and additional care during pregnancy and after birth. The results can help expectant parents make informed decisions about the pregnancy, including whether to continue the pregnancy or planning for tailored pregnancy monitoring and newborn care. These genetic results may also guide care in future pregnancies.

"We offer these tests to all pregnant women in Australia, so they have an opportunity to screen for certain genetic conditions that can cause major health issues or even stillbirth or neonatal death," Cecilia said. "If we look at one particular chromosome condition, Edward syndrome, we know that these pregnancies are often associated with multiple anomalies, fetal growth restriction and stillbirth. In my research, I’m looking at what happens to pregnancies with any type of fetal chromosome condition as we don’t have any contemporary information on prenatal detection rates, women’s choices or pregnancy outcomes."

The research, funded by the National Health and Medical Research Council (NHMRC), will use data from the past decade to show prenatal screening uptake in Victoria, including follow-up diagnostic testing, and the associated birth outcomes. It will compare people from metropolitan and regional areas, as well as those from different socioeconomic and demographic backgrounds.

Cecilia hopes her PhD research will help to improve access to screening by collating quality data which can be used to push for policy change. In a recently-published research survey of healthcare professionals and pregnant people, public funding for NIPT was supported by 86.4% of providers and 90.4% of consumers. The findings showed cost was a significant barrier for those who chose not to have NIPT. Compared to pregnant women who had used NIPT, those who had not tended to be younger (under 30), with lower incomes, and more likely to live in a regional area.

"What I’d love to see is greater access for women in regional areas and those who can't afford screening, which will then improve outcomes at birth. I want to see a Medicare item number for NIPT, so the cost is brought down to around $100," Cecilia said.

While her PhD does not consider the long-term impacts on families and children, Cecilia acknowledged the potential downstream effects of missed diagnoses. "If a baby is born unexpectedly with a condition that requires greater health or educational support. It can mean worse outcomes for families as the birth may not be in a hospital with appropriate newborn care, leading to unnecessary separation, worse health outcomes, and parental distress," Cecilia said. "These situations can be avoided if couples and the obstetric team have adequate information to prepare for the birth and any anticipated medical issues." She hopes her work could pave the way for policy changes that ensure all expectant parents, regardless of their circumstances, have access to crucial prenatal screening information.

Cecilia completed a Bachelor of Science, majoring in genetics, at the University of Melbourne, before going on to study a Master of Genomics and Health.