[{"command":"openDialog","selector":"#drupal-modal","settings":null,"data":"\u003Cdiv id=\u0022republish_modal_form\u0022\u003E\u003Cform class=\u0022modal-form-example-modal-form ecl-form\u0022 data-drupal-selector=\u0022modal-form-example-modal-form\u0022 action=\u0022\/en\/article\/modal\/12907\u0022 method=\u0022post\u0022 id=\u0022modal-form-example-modal-form\u0022 accept-charset=\u0022UTF-8\u0022\u003E\u003Cp\u003EHorizon articles can be republished for free under the Creative Commons Attribution 4.0 International (CC BY 4.0) licence.\u003C\/p\u003E\n \u003Cp\u003EYou must give appropriate credit. We ask you to do this by:\u003Cbr \/\u003E\n 1) Using the original journalist\u0027s byline\u003Cbr \/\u003E\n 2) Linking back to our original story\u003Cbr \/\u003E\n 3) Using the following text in the footer: This article was originally published in \u003Ca href=\u0027#\u0027\u003EHorizon, the EU Research and Innovation magazine\u003C\/a\u003E\u003C\/p\u003E\n \u003Cp\u003ESee our full republication guidelines \u003Ca href=\u0027\/horizon-magazine\/republish-our-stories\u0027\u003Ehere\u003C\/a\u003E\u003C\/p\u003E\n \u003Cp\u003EHTML for this article, including the attribution and page view counter, is below:\u003C\/p\u003E\u003Cdiv class=\u0022js-form-item form-item js-form-type-textarea form-item-body-content js-form-item-body-content ecl-form-group ecl-form-group--text-area form-no-label ecl-u-mv-m\u0022\u003E\n \n\u003Cdiv\u003E\n \u003Ctextarea data-drupal-selector=\u0022edit-body-content\u0022 aria-describedby=\u0022edit-body-content--description\u0022 id=\u0022edit-body-content\u0022 name=\u0022body_content\u0022 rows=\u00225\u0022 cols=\u002260\u0022 class=\u0022form-textarea ecl-text-area\u0022\u003E\u003Ch2\u003E From lab to life: advanced genetic testing offers fresh hope for a healthy start in life\u003C\/h2\u003E\u003Cp\u003EThe story of Bojana Mirosavljevi\u0107 and her two healthy daughters, aged four and 10, is a testament to the power of modern reproductive medicine and the work of researchers like Greek fertility specialist Dr Aspasia Destouni and Estonian molecular biologist Dr Ants Kurg.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EAfter losing her eldest daughter Zoja to a devastating genetic disorder, Mirosavljevi\u0107 found hope in preimplantation genetic testing (PGT), a technique developed in the 1990s and perfected, among others, by EU-funded researchers.\u003C\/p\u003E\u003Cp\u003EBy analysing her daughters\u2019 DNA while they were still five-day-old embryos, doctors confirmed they did not carry flawed copies of the gene TPP1. This gene\u2019s malfunction can cause CLN2, a deadly disease that impairs physical movements and skills, as well as mental development. As a result, they were deemed safe for implantation into their mother\u2019s womb.\u003C\/p\u003E\u003Cp\u003E\u201cGenetic testing helped save my family,\u201d said Mirosavljevi\u0107, who had previously gone through 27 rounds of in-vitro fertilisation (IVF).\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EShe lives in Novi Sad, Serbia, and is today an active member of \u003Ca href=\u0022https:\/\/www.eurordis.org\/\u0022\u003EEURORDIS\u003C\/a\u003E, a non-profit alliance of rare disease patients, and founder of the LIFE Association for Rare Diseases in Children \u2013 a support and advocacy group for patients and their families.\u003C\/p\u003E\u003Ch2\u003ESafe prenatal checks\u003C\/h2\u003E\u003Cp\u003EInfertility in Europe is a growing concern. According to a report from the World Health Organization, it affects one in six couples in Europe. The highest rates are found in the eastern and southern regions.\u003C\/p\u003E\u003Cp\u003EThanks to intensive research over the last three decades, PGT is now routinely offered to at-risk women in many \u2013 but not all \u2013 European countries. For instance, Spain, the Netherlands and the UK have excellent track records in providing access to PGT. By contrast, Ireland, Greece and Germany offer a less comprehensive service.\u003C\/p\u003E\u003Cp\u003E\u003Cblockquote class=\u0022tw-text-center tw-text-blue tw-font-bold tw-text-2xl lg:tw-w-1\/2 tw-border-2 tw-border-blue tw-p-12 tw-my-8 lg:tw-m-12 lg:tw--ml-16 tw-float-left\u0022\u003E\n \u003Cspan class=\u0022tw-text-5xl tw-rotate-180\u0022\u003E\u201c\u003C\/span\u003E\n \u003Cp class=\u0022tw-font-serif tw-italic\u0022\u003EIn Europe, women are often delaying motherhood, so we need to finetune our fertility solutions.\u003C\/p\u003E\n \u003Cfooter\u003E\n \u003Ccite class=\u0022tw-not-italic tw-font-normal tw-text-sm tw-text-black\u0022\u003EDr Aspasia Destouni, NESTOR\u003C\/cite\u003E\n \u003C\/footer\u003E\n\u003C\/blockquote\u003E\n\u003C\/p\u003E\u003Cp\u003EEU-backed researchers in Europe are determined to expand the reach of PGT and other pioneering reproductive services across the continent. The goal is to ensure that patients like Mirosavljevi\u0107 are given the best possible chance to overcome fertility issues and give birth to children free from genetic diseases.\u003C\/p\u003E\u003Ch2\u003ENetworking for excellence\u003C\/h2\u003E\u003Cp\u003EDestouni is a\u0026nbsp;researcher in reproductive genomics at the Aristotle University of Thessaloniki in Greece, currently on secondment at the University of Tartu in Estonia.\u003C\/p\u003E\u003Cp\u003EShe is the co-principal investigator of a three-year EU-funded project called \u003Ca href=\u0022https:\/\/cordis.europa.eu\/project\/id\/101120075\u0022\u003ENESTOR\u003C\/a\u003E. It aims to establish a Greek network of researchers and innovators working with those from Estonia and Maastricht University in the Netherlands. The NESTOR team focuses on turning discoveries in the lab into real-life solutions.\u003C\/p\u003E\u003Cp\u003EThe team aims to improve PGT, non-invasive prenatal testing (NIPT), female reproductive health and methods for predicting fertility.\u003C\/p\u003E\u003Cp\u003EEstonia, in particular, is proving a great inspiration.\u003C\/p\u003E\u003Cp\u003E\u201cThey have a fantastic model,\u201d said Destouni. \u201cFor instance, they\u2019ve created the Estonian Biobank, which collects and stores genetic and health data from 20% of the country\u2019s adult population, which is used to support research, personalised medicine and public health.\u201d\u003C\/p\u003E\u003Ch2\u003EKnowledge sharing\u003C\/h2\u003E\u003Cp\u003EEstonia\u2019s successes can be traced back to the EU\u2019s Widening initiative, a broad EU-funded research programme that started in 2014 and continues today.\u003C\/p\u003E\u003Cp\u003EIts aim is to transfer ideas, expertise and training from established research centres to those in Widening countries, meaning those that lag behind, and create networks between research teams.\u003C\/p\u003E\u003Cp\u003EIn terms of fertility problems, the underlying idea is to guarantee that all 27 EU Member States can equally contribute to and benefit from scientific advancements in reproductive medicine.\u003C\/p\u003E\u003Cp\u003EAt the time of the initiative\u2019s inception, Estonia was among the 15 European countries classified as Widening countries. Greece was added in 2021.\u003C\/p\u003E\u003Cp\u003EMuch of the progress Estonia has since made can be traced back to a clinic that opened at the University of Tartu in 2016.\u003C\/p\u003E\u003Cp\u003EIn setting it up, Estonian scientists collaborated closely with fertility researchers from KU Leuven in Belgium and the University of Oxford, UK.\u003C\/p\u003E\u003Cp\u003EThis collaboration was brought about through an offshoot of Widening, a three-year EU-funded research programme called WIDENLIFE, which ended in 2018.\u003C\/p\u003E\u003Cp\u003EKurg, a professor\u0026nbsp;of molecular biotechnology at the University of Tartu and principal investigator of WIDENLIFE, says sharing expertise between Belgium, the UK and Estonia has helped many Estonian couples achieve normal pregnancy and deliver healthy babies.\u003C\/p\u003E\u003Cp\u003EBefore WIDENLIFE, pre-implantation testing for IVF embryos was limited and costly in Estonia, as was prenatal genetic testing.\u003C\/p\u003E\u003Cp\u003E\u201cSamples had to be sent abroad and there would be a two- to three-week wait for results, which is much longer than you\u2019d want,\u201d said Kurg.\u003C\/p\u003E\u003Cp\u003EThe collaboration with Belgian researchers was one of the cornerstones of the project, according to Kurg. Thanks to this, they were able to bring the necessary technology to Estonia so that all testing could be done there.\u003C\/p\u003E\u003Cp\u003EThe system developed by WIDENLIFE uses a combination of single cell analysis and software algorithms to analyse the likelihood of successful implantation and development of an embryo, which helps those undergoing IVF therapy.\u003C\/p\u003E\u003Cp\u003ENESTOR builds upon the success of WIDENLIFE, and the hope is that it will strengthen the collaborative innovation activities between Estonia, Greece and the Netherlands.\u003C\/p\u003E\u003Ch2\u003EClosing the gap\u003C\/h2\u003E\u003Cp\u003EDestouni singled out age as the most critical determinant of a woman\u2019s fertility.\u003C\/p\u003E\u003Cp\u003E\u201cIn Europe, women are often delaying motherhood, so we need to finetune our fertility solutions to make them effective for the population we are treating.\u201d\u003C\/p\u003E\u003Cp\u003ESince the establishment of the Tartu clinic, many women in Estonia have also benefited from improved access to PGT for single-gene diseases, such as late infantile type CLN2 Batten disease \u2013 the condition that claimed Zoja\u2019s life.\u003C\/p\u003E\u003Cp\u003EExperts estimate there are between \u003Ca href=\u0022https:\/\/mirror.omim.org\/statistics\/geneMap\u0022\u003E7 600\u003C\/a\u003E and \u003Ca href=\u0022https:\/\/www.thegenehome.com\/basics-of-genetics\/disease-examples\u0022\u003E10 000\u003C\/a\u003E diseases caused by mutations to a single gene. These disorders affect up to 10 in 1 000 people and include cystic fibrosis, sickle cell disease, thalassemia and haemophilia.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003EPGT is also valuable for women over 35, as the likelihood of carrying a child with a genetic abnormality increases and the success of IVF decreases with age. PGT can also be beneficial for women with a history of miscarriages, multiple failed IVF cycles, or for couples experiencing infertility.\u003C\/p\u003E\u003Cp\u003E\u003Cblockquote class=\u0022tw-text-center tw-text-blue tw-font-bold tw-text-2xl lg:tw-w-1\/2 tw-border-2 tw-border-blue tw-p-12 tw-my-8 lg:tw-m-12 lg:tw--ml-16 tw-float-left\u0022\u003E\n \u003Cspan class=\u0022tw-text-5xl tw-rotate-180\u0022\u003E\u201c\u003C\/span\u003E\n \u003Cp class=\u0022tw-font-serif tw-italic\u0022\u003EGenetic testing helped save my family.\u003C\/p\u003E\n \u003Cfooter\u003E\n \u003Ccite class=\u0022tw-not-italic tw-font-normal tw-text-sm tw-text-black\u0022\u003EBojana Mirosavljevi\u0107, patient\u003C\/cite\u003E\n \u003C\/footer\u003E\n\u003C\/blockquote\u003E\n One very concrete success of WIDENLIFE is the advancement of another class of fertility tests, known as non-invasive prenatal testing (NIPT), which have greatly improved in Estonia.\u003C\/p\u003E\u003Cp\u003EThis method is used to assess the risk of a foetus having certain genetic abnormalities, such as Down\u2019s Syndrome.\u003C\/p\u003E\u003Cp\u003EThe test \u2013 conducted after 10 weeks of pregnancy \u2013 analyses small fragments of foetal DNA present in the mother\u2019s blood. It is safer than the older and better-known amniocentesis test, which involves extracting amniotic fluid that surrounds the foetus through a needle.\u003C\/p\u003E\u003Ch2\u003EIncredibly accurate tests\u003C\/h2\u003E\u003Cp\u003EScientists from the University of Tartu have further developed NIPT, in partnership with Celvia, an Estonian company and research institution, to create an even more accurate technique for detecting chromosomal abnormalities non-invasively.\u003C\/p\u003E\u003Cp\u003EKnown as Niptify, it is today widely offered to pregnant women in Estonia, subsidised by the Estonian national health care system. The objective is to enable parents to make an informed decision about continuing or ending the pregnancy.\u003C\/p\u003E\u003Cp\u003E\u201cNiptify is an incredibly accurate way to detect foetal chromosomal abnormalities. It is offered to every pregnant woman over the age of 35 in Estonia,\u201d said Kurg, adding that \u201cthe technology behind it continues to be improved\u201d.\u003C\/p\u003E\u003Cp\u003EIn Greece, however, the reproductive medicine landscape is very fragmented, Destouni said, and some tests are not done in public health institutions, which means they are not readily available to the broadest population.\u003C\/p\u003E\u003Cp\u003E\u201cThe most innovative tests are generally offered by the private sector, which adopts mature technologies from foreign biotech companies,\u201d she said. \u201cThis is not ideal, because it de-incentivises research and innovation efforts and allows the loss of valuable genomic data from the Greek population.\u201d\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u201cEverything needs improving, from research and data collection to fertility treatment and birthing services.\u201d\u003C\/p\u003E\u003Cp\u003EThe hope is that, with European networking and collaboration among researchers, things will indeed improve.\u0026nbsp;\u003C\/p\u003E\u003Cp\u003E\u003Cem\u003EResearch in this article was funded by the EU\u2019s Horizon Programme. The views of the interviewees don\u2019t necessarily reflect those of the European Commission. If you liked this article, please consider sharing it on social media.\u003C\/em\u003E\u003C\/p\u003E\u003Cp\u003E\u003Cem\u003E*The article has been amended to clarify that Greece was denoted a Widening country in 2021 and not in 2014.\u003C\/em\u003E\u003C\/p\u003E\u003C\/textarea\u003E\n\u003C\/div\u003E\n\n \u003Cdiv id=\u0022edit-body-content--description\u0022 class=\u0022ecl-help-block description\u0022\u003E\n Please copy the above code and embed it onto your website to republish.\n \u003C\/div\u003E\n \u003C\/div\u003E\n\u003Cinput autocomplete=\u0022off\u0022 data-drupal-selector=\u0022form-maxnn49bzwggf1eg6ichqhzwl-nl2drjwmn4zllsdeo\u0022 type=\u0022hidden\u0022 name=\u0022form_build_id\u0022 value=\u0022form-mAXnn49BZwggF1eG6IChqhzWL-nL2DRjwMn4zlLSDeo\u0022 \/\u003E\n\u003Cinput data-drupal-selector=\u0022edit-modal-form-example-modal-form\u0022 type=\u0022hidden\u0022 name=\u0022form_id\u0022 value=\u0022modal_form_example_modal_form\u0022 \/\u003E\n\u003C\/form\u003E\n\u003C\/div\u003E","dialogOptions":{"width":"800","modal":true,"title":"Republish this content"}}]