Researchers and doctors, backed by EU funding, are transforming the future of reproductive medicine, using cutting-edge genetic testing to help at-risk families have healthy pregnancies. Among them, Dr. Aspasia Destouni and Dr. Ants Kurg are making significant strides in pre-implantation and prenatal genetic testing, offering fresh hope for families struggling with fertility and genetic disorders.
Bojana Mirosavljević’s journey reflects the power of modern medical advancements. After the heartbreaking loss of her first daughter Zoja to a severe genetic disorder, Mirosavljević turned to pre-implantation genetic testing (PGT) — a method refined by EU-backed scientists. This breakthrough technique, which involves analyzing embryos for genetic defects, enabled her to give birth to two healthy daughters. Thanks to genetic testing, her embryos were found free of the harmful TPP1 gene that causes the life-threatening disease CLN2, ensuring their safe implantation.
“Genetic testing helped save my family,” Mirosavljević says, recalling her 27 rounds of in-vitro fertilization (IVF) before finding success. Living in Novi Sad, Serbia, she has become an active advocate for rare disease patients, co-founding EURORDIS and the LIFE Association for Rare Diseases in Children.
Infertility is becoming a pressing issue across Europe, with the World Health Organization reporting that one in six couples are affected. While some countries like Spain, the Netherlands, and the UK offer comprehensive PGT services, others, including Ireland, Greece, and Germany, have yet to fully expand these services.
EU researchers are working to change this, focusing on broadening access to these vital technologies. Dr. Destouni, a leading researcher in reproductive genomics, is part of the NESTOR project, which aims to integrate cutting-edge reproductive solutions into healthcare systems across Europe. Through collaboration between Greece, Estonia, and the Netherlands, NESTOR seeks to improve PGT, non-invasive prenatal testing (NIPT), and fertility predictions.
Estonia’s successful model, including its national biobank that stores genetic and health data from 20% of its adult population, has become a source of inspiration for other European nations. Dr. Destouni praises this approach, noting the profound impact of combining research and public health to support personalized medicine.
This success is largely due to the EU’s Widening initiative, which started in 2014 to foster collaboration between leading research centers and countries with emerging scientific communities. As a result, Estonia has become a leader in fertility and genetic testing, with notable advancements at the University of Tartu. The establishment of a fertility clinic in 2016 has empowered local researchers, in partnership with prestigious institutions such as KU Leuven and the University of Oxford, to make significant breakthroughs.
Dr. Kurg, who helped establish the clinic, highlights the success of WIDENLIFE, an EU-funded initiative that brought crucial genetic testing technologies to Estonia, allowing for faster and more affordable pre-implantation and prenatal testing.
Today, patients in Estonia benefit from non-invasive prenatal tests like Niptify, which assesses the risk of chromosomal abnormalities using fetal DNA found in the mother’s blood. This test, now widely available and subsidized by the Estonian healthcare system, is an alternative to the invasive amniocentesis procedure. With increasing accuracy, Niptify is changing the way prenatal care is approached, especially for women over 35, who face higher risks of genetic disorders.
While Estonia makes significant strides, Greece’s reproductive medicine system remains fragmented. Dr. Destouni explains that access to innovative tests is limited, especially in public healthcare, where cutting-edge technologies are often only available through the private sector. This disparity prevents the full potential of Greece’s genetic data from being harnessed for further research and innovation.
As EU-backed initiatives continue to evolve, the hope is that these pioneering advances in genetic testing will not only improve fertility treatment but also pave the way for healthier pregnancies across Europe. Through collaborative efforts and shared expertise, researchers aim to overcome the challenges facing couples dealing with infertility and genetic disorders, offering a brighter, healthier future for families everywhere.
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