In Estonia, the number of genetic disorders tested for through prenatal screening has risen from four to 12, a global high. The newly developed non-invasive test permits screening for all main chromosomal abnormalities at the early stage of the pregnancy.
At the Competence Centre on Health Technologies (CCHT) — a biotechnology company focused on commercialization of scientific achievements based in Tartu — researchers are developing new ways of analyzing non-invasive prenatal (NIPT) tests that have been used for many years to screen for better known chromosomal abnormalities such as Down's, Edwards, Patau, and Turner syndromes at the first trimester of pregnancy.
While the diagnose of these four disorders is based on counting the number of chromosomes, the newly developed technology allows to diagnose other disorders, the so-called microdeletion syndromes that are not widely investigated or known to medics or the society, by looking inside the chromosomes.
"One of the most common microdeletion disorder is DiGeorge syndrome. It occurs once every 1,100 to 1,500 pregnancies during the first trimester. This makes it the second most prevalent chromosomal abnormality after Down syndrome. It was previously only detectable during the second trimester, when a fetal heartbeat could already be seen," Kaarel Kryutkov, the laboratory manager at the biotechnology company, explained.
Each of the eight tested microdeletion disorders affects around one in 1000 pregnancies per trimester. This translates to around 10 cases per year in Estonia.
"These are rather rare and potentially fatal conditions with not many ways available to detect them. /.../ The test allows parents to learn more about the health of their fetus and unborn child, enabling them to make informed decisions regarding their pregnancy," the professor of reproductive biology at the University of Tartu Andres Salumets said.
A total of 2,400 "Niptify" tests were conducted last year detecting 20 pregnancies with Down's syndrome. The Health Insurance Fund covered screening costs for 2,000 high-risk pregnancies, or 15 percent of all pregnant women.
The cost of "Niptify" screening without reimbursement is between €200 and 250.
"Of course, we would prefer for the situation in Estonia to be like that in Belgium and the Netherlands, for example, where the NIPT tests are offered free of charge to everyone," Salumets said.
The prenatal screening test is administered at 45 women's clinics in all county centers in Estonia.
Editor: Kristina Kersa