In a groundbreaking leap for reproductive medicine, EU-backed researchers and medical professionals are advancing genetic testing methods to help at-risk families achieve healthy pregnancies. This new era of pre-implantation and prenatal genetic testing provides fresh hope for parents facing fertility challenges and genetic disorders.
One such success story is that of Bojana Mirosavljević, a mother from Novi Sad, Serbia, who lost her eldest daughter, Zoja, to a rare genetic disorder. After undergoing 27 rounds of in-vitro fertilization (IVF), Mirosavljević found hope in preimplantation genetic testing (PGT), a technique developed in the 1990s and refined with the help of EU-funded researchers. PGT allowed her doctors to screen embryos for genetic defects, ensuring her two younger daughters, now aged 4 and 10, were free from the faulty TPP1 gene linked to CLN2 disease, which affects both physical and mental development. Mirosavljević credits genetic testing with saving her family.
“The technology has transformed my life,” Mirosavljević said, as she now actively supports EURORDIS, a rare disease advocacy group, and runs the LIFE Association, helping families facing similar challenges.
Infertility is a growing concern across Europe, with the World Health Organization reporting that one in six couples is affected, especially in Eastern and Southern Europe. While some countries, such as Spain, the Netherlands, and the UK, offer robust access to PGT, others like Greece, Ireland, and Germany have yet to provide comprehensive services. EU-funded projects aim to bridge these gaps by expanding access to genetic testing and reproductive health services.
A key player in this effort is Dr. Aspasia Destouni, a Greek fertility specialist, who co-leads the NESTOR project. This initiative aims to enhance PGT, non-invasive prenatal testing (NIPT), and fertility prediction methods through collaboration between Greece, Estonia, and the Netherlands. Estonia, with its impressive Estonian Biobank, serves as a model for personalized medicine and health data sharing, benefiting both research and patient care.
The Widening initiative, a significant EU-funded program, has played a pivotal role in transferring knowledge and expertise from established research centers to regions that lag in reproductive health. Estonia, a country previously classified as a “Widening country,” has made remarkable progress in fertility treatments, particularly through collaboration with institutions like KU Leuven and the University of Oxford. This partnership has enabled Estonia to offer advanced IVF and genetic testing services that were previously unavailable or costly.
Dr. Ants Kurg, a molecular biologist at the University of Tartu, helped lead the WIDENLIFE project, which established essential fertility technologies in Estonia. The project focused on improving pre-implantation testing for IVF embryos and refining methods for prenatal genetic screening. Kurg’s work ensured that Estonia could process all genetic tests domestically, removing the need for costly and time-consuming samples to be sent abroad.
Now, the NESTOR project aims to build on these achievements by further strengthening cooperation between European research hubs. The initiative also targets improving reproductive health for women, particularly those facing fertility issues due to age or genetic risks.
One of the most promising developments in Estonia is the advancement of NIPT, a non-invasive method for detecting chromosomal abnormalities like Down’s syndrome. The NIPT technique, developed in partnership with the Estonian company Celvia, analyzes fragments of fetal DNA found in the mother’s blood, making it a safer alternative to invasive tests like amniocentesis. Known as Niptify, this highly accurate test is available to pregnant women in Estonia, particularly those over 35, as part of the national healthcare system.
However, in Greece, Destouni notes that access to the latest reproductive technologies remains uneven. Public healthcare services do not always offer the most advanced tests, which are often reserved for private practices. This situation has led to concerns about the lack of innovation and the potential loss of valuable genetic data from the Greek population.
As European researchers continue to collaborate across borders, there is hope that these disparities will be addressed. The goal is to ensure that families in all EU Member States can benefit from the latest advancements in genetic testing, offering the possibility of healthy pregnancies and a brighter future for children and parents alike.
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