The story of Bojana Mirosavljević and her two healthy daughters, aged four and ten, exemplifies the transformative potential of modern reproductive medicine, specifically preimplantation genetic testing (PGT). After tragically losing her eldest daughter, Zoja, to the genetic disorder CLN2, Mirosavljević found hope through advancements in reproductive technology. Through PGT, a technique refined by EU-funded researchers, doctors analyzed the DNA of her daughters as embryos to confirm they did not carry the defective gene responsible for the disease. This crucial testing allowed for the safe implantation of the embryos and ultimately saved her family.
Mirosavljević’s journey highlights the importance of genetic testing in reproductive medicine. After undergoing 27 rounds of in vitro fertilization (IVF), she is now an active advocate for rare disease patients, working with EURORDIS and founding the LIFE Association for Rare Diseases in Children in Serbia. Her experience reflects the growing concern over infertility in Europe, which affects one in six couples, with the highest rates in Eastern and Southern Europe.
PGT, which has evolved over the past three decades, is increasingly available to women at risk of passing on genetic conditions. Countries like Spain, the Netherlands, and the UK offer comprehensive access to PGT, while others such as Ireland, Greece, and Germany have less widespread availability. EU-funded research efforts are striving to expand PGT access across Europe, ensuring more couples have the opportunity to conceive children free from genetic diseases.
One such initiative is the NESTOR project, led by Dr. Aspasia Destouni, a Greek fertility specialist, and Dr. Ants Kurg, an Estonian molecular biologist. The project, supported by EU funding, aims to develop innovative solutions for improving reproductive health, including PGT and non-invasive prenatal testing (NIPT). The collaboration between Greek, Estonian, and Dutch researchers aims to turn laboratory discoveries into practical applications, making fertility treatments more accessible and effective.
Estonia, in particular, has become a model of success in reproductive medicine. The country’s Estonian Biobank, which stores genetic and health data from 20% of the adult population, plays a key role in advancing personalized medicine and supporting research. Estonia’s progress can be traced back to the EU’s Widening initiative, which began in 2014 and aims to bolster research capabilities in countries with emerging scientific sectors.
The University of Tartu in Estonia has also played a pivotal role in advancing fertility treatments. Through partnerships with Belgium’s KU Leuven and the University of Oxford, Estonian scientists were able to bring crucial technology to the country, significantly improving access to IVF and genetic testing. The collaboration led to the development of systems that allow for the local analysis of IVF embryos, reducing wait times and making testing more efficient.
The success of the WIDENLIFE program, a precursor to NESTOR, has paved the way for improvements in both PGT and NIPT. NIPT, which tests fetal DNA for chromosomal abnormalities like Down’s Syndrome, is now widely available in Estonia, subsidized by the national healthcare system. The introduction of Niptify, a more accurate version of NIPT, has further enhanced the accuracy of genetic screening, offering pregnant women a safer and non-invasive alternative to traditional tests like amniocentesis.
While Estonia continues to lead the way in reproductive medicine, Greece faces challenges in providing widespread access to cutting-edge fertility treatments. Dr. Destouni highlighted the fragmented landscape of reproductive medicine in Greece, where many of the most advanced tests are only available through private healthcare providers. This disparity, she argues, inhibits research and the collection of valuable genomic data that could benefit the Greek population.
The ongoing collaboration between European researchers aims to address these gaps, improving access to fertility treatments and genetic testing across the continent. As the field of reproductive medicine continues to evolve, the hope is that more families will have the opportunity to overcome infertility and give birth to healthy, genetically-free children, regardless of where they live in Europe.
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