{"id":1649,"date":"2025-07-07T10:14:30","date_gmt":"2025-07-07T07:14:30","guid":{"rendered":"https:\/\/sfsivf.gr\/?p=1649"},"modified":"2025-10-17T11:01:25","modified_gmt":"2025-10-17T08:01:25","slug":"doctor-should-we-read-the-childs-genes","status":"publish","type":"post","link":"https:\/\/sfsivf.gr\/en\/doctor-should-we-read-the-childs-genes\/","title":{"rendered":"Doctor, Should We Read the Child’s Genes?"},"content":{"rendered":"\n

What Can We Check About a Baby Before It\u2019s Born?<\/strong> Where Does Prenatal Testing End and \u201cOrdering\u201d a Baby Begin?<\/strong> And what happens when even DNA can\u2019t predict the future with certainty? A map of a biotechnology \u201cmarket\u201d that\u2019s already making leaps forward.<\/strong><\/p>\n\n\n\n

Harita Stylianidou and her husband had been trying to conceive a second child for three years. Just before turning to a fertility specialist, in October 2022, they finally got the long-awaited positive test. Harita was 36 years old at the time. The pregnancy went smoothly and, as she told Kathimerini<\/em>, all the tests were normal. However, after the birth, the somber look on the obstetrician\u2019s face confirmed her suspicion that something was different about her baby.<\/p>\n\n\n\n

Tests confirmed it: trisomy 21, Down syndrome. Harita has thought about it many times since, and has often been asked by followers of her Instagram page Rolando\u2019s World<\/em>, where she shares the everyday life of her son Rolando (named after his grandfather): What would she have done if the chromosomal abnormality had been diagnosed during the pregnancy?<\/strong><\/p>\n\n\n\n

Preventive carrier screening, preimplantation embryo testing, non-invasive prenatal testing, and invasive genetic testing during pregnancy\u2014today, having a child leaves almost nothing to chance. Still, chance always seems to find a way to intrude, overturning plans, certainties, and timelines. <\/p>\n\n\n\n

So what can we actually control in human reproduction? Where does prenatal testing end and embryo \u201cselection\u201d or custom \u201cordering\u201d of babies begin?<\/p>\n\n\n\n

A Rapid Rise in Testing<\/h3>\n\n\n\n

Testing of embryos\u2014whether in IVF procedures or during pregnancy\u2014has rapidly increased in recent years and is now highly thorough.
\u201cOne reason for this increase is better awareness, but also the fact that women today have children at older ages, when the chances of unhealthy eggs are higher,\u201d says Ariadne Kalpini-Mavrou, Professor Emeritus of Genetics at the University of Athens and scientific advisor to Genesis Genoma Lab<\/em>, a lab specializing in genetic disease diagnostics.<\/p>\n\n\n\n

\u201cIt\u2019s also significant that gynecologists now routinely recommend screening couples to see if they are carriers for cystic fibrosis, thalassemia, and other conditions. If both are carriers, testing the embryo is advised,\u201d she explains.<\/p>\n\n\n\n

\u201cThere is the possibility of testing over 2,000 genes in the parents,\u201d adds molecular biologist-geneticist Amelia Pantou, also a collaborator at the same lab. \u201cIt depends on what each couple wants and what they can afford. However, we cannot do carrier screening at the preimplantation embryo level\u2014we always look for something specific.\u201d<\/p>\n\n\n\n

The genetic test to detect the syndrome author Katerina Malakate suffers from only became available in Greece last year. \u201cI have a rare mitochondrial syndrome that\u2019s passed only from mother to child,\u201d she explains. \u201cMy great-grandmother had it and died in childbirth. My grandmother passed it on to four of her five daughters, who passed it on to four of my five cousins. My mother\u2019s sisters died with only a suspicion of the condition. I\u2019m the first in the family with a confirmed genetic diagnosis.\u201d<\/p>\n\n\n\n

The syndrome severely impacts quality of life, causing Type 1 diabetes, deafness, and muscle disease. \u201cThe question is: If I had known before having children, would I still have had them? Yes. I\u2019m a complete person living a full life. It would be a different question if it were a syndrome that meant the child would live a life of suffering.\u201d<\/strong><\/p>\n\n\n\n

So far, her two sons haven\u2019t been tested for the syndrome. At present, they\u2019ve shown no symptoms.<\/p>\n\n\n\n

The Uncertainty<\/h2>\n\n\n\n

What\u2019s most challenging in genetic counselling, says Prof. Mavrou, is when a gene is found in the parents that\u2019s associated<\/strong> with a disease, but without certainty. \u201cThe hardest thing is having to say, \u2018I don\u2019t know whether the child will develop it or not.\u2019\u201d<\/strong> For many genetic diseases, the facts are clear. But there are many others we don\u2019t fully understand\u2014they\u2019re rare. \u201cAll we can do then is say, \u2018We don\u2019t know, nobody knows, but the literature suggests most children with this mutation show these characteristics.\u2019\u201d<\/p>\n\n\n\n

\u00ab<\/em>You can test over 2,000 genes in parents. But in embryos, we can\u2019t screen for carrier status at the preimplantation level\u2014we always look for something specific.\u00bb.<\/em><\/p>\n\n\n\n

Shortly before our interview, Prof. Mavrou had a consultation with a 29-year-old woman. \u201cIn her prenatal screening, as recommended by her doctor, she discovered she carried a very serious chromosomal abnormality. She\u2019s healthy, and her mother had four healthy children, but now she knows she could potentially have a child with pathology.”<\/p>\n\n\n\n

“The more you look, the more you find”<\/h2>\n\n\n\n

And in these matters, the principle \u201cthe more you look, the more you find\u201d applies. The more extensive the tests and options available, the more information prospective parents are required to process. \u201cIt is completely logical for someone to want to have a healthy child, free from issues that could burden its survival in the future or affect its independence,\u201d says gynecologist and associate professor at the Medical School of the National and Kapodistrian University of Athens, Marianna Theodorou, speaking to \u201cK\u201d.<\/p>\n\n\n\n

\u201cIn recent years, however, the belief has developed that with prenatal testing we can see almost everything. That if you undergo as many tests as possible, the chance that something is wrong with the child is almost zero. But what we see is that this actually increases anxiety. When I tell a pregnant woman that everything looks fine based on what I can see, she replies, \u2018What can\u2019t you see?\u2019\u201d<\/p>\n\n\n\n

Previous generations didn\u2019t have this. Pregnancy always carried an element of surprise. If a child was born with a problem, it was attributed to nature or to God. Today, people want to control everything\u2014 their environment, the temperature in their home, traffic on the road. \u201cWhat I explain to the women I examine,\u201d says Theodorou, \u201cis that when you have a child, you have to let go of the desire for complete control. You\u2019ll plan a trip and the child will get a fever!\u201d<\/p>\n\n\n\n

Nature knows best<\/h2>\n\n\n\n

For older women, chromosomal abnormalities are the most common cause of miscarriage. \u201cVery serious chromosomal abnormalities are not compatible with life. Nature knows and ends the pregnancy,\u201d says Dr. Mavrou. The toughest dilemmas, of course, arise when a woman is already pregnant and chromosomal abnormalities compatible with life are detected\u2014such as Down syndrome, trisomy 18, trisomy 13, Turner syndrome, or triple X syndrome.<\/p>\n\n\n\n

\u201cEspecially if a couple has struggled a lot to achieve pregnancy, the decision becomes extremely difficult,\u201d says Dr. Pantou. In many cases, the parents’ religious beliefs determine the outcome. According to Dr. Mavrou, in an area of Boston populated mainly by Catholics, the likelihood of keeping a child diagnosed with Down syndrome is high.<\/p>\n\n\n\n

\u201cIn Greece, that\u2019s not the case. We don\u2019t have the infrastructure to support the child. We have encountered cases here where parents say they do not want to terminate the pregnancy. Our role is to explain to them as clearly as possible what the child\u2019s life might look like, what capabilities it will have, that genetic disorders have no cure, and that the decision is entirely theirs.\u201d<\/p>\n\n\n\n

\u201cWhat I explain to the women I examine is that when you have a child, you have to let go of the desire for complete control. You\u2019ll plan a trip and the child will get a fever!\u201d<\/p>\n\n\n\n

Obstetrician-gynecologist Dr. Ioannis Zervomanolakis, medical director of AIVF Athens\u2014a company working with the HYGEIA IVF Embryogenesis Unit to apply artificial intelligence technology to IVF\u2014has also been present during moments when couples had to make such difficult decisions.<\/p>\n\n\n\n

\u201cBecause I trained in Germany and worked in Austria, there we had couples where trisomy 21 was detected during the nuchal translucency scan, and they chose to keep the child because the social framework and the state\u2019s support system there allow that child to be born, grow up, and find their place in society without barriers. In Greece, things are different. The chances that a couple will decide to terminate the pregnancy are much higher.\u201d<\/p>\n\n\n\n

\u201cTo be prepared\u201d<\/h2>\n\n\n\n

Katerina Malakate\u2019s older son is a high-functioning autistic child. Currently, there is no reliable prenatal test for autism. If there were one, she would have taken it during her second pregnancy. \u201cJust to know, so I could help him from the start,\u201d she says. Harita, too, had already answered that question from the maternity ward.<\/p>\n\n\n\n

\u201cI would want to know just so I could be prepared. Even though, as a teacher, I was in some way already prepared for everything. We see so many children with all kinds of differences in schools today. I wouldn\u2019t have the strength to terminate. You might say it takes more strength to raise the child. I know that, but in some magical way, I draw that strength from my child! On Instagram, I share how wonderful the progress of these individuals is\u2014something I used to see only on foreign profiles when I first gave birth. Rolando is now 22 months old, lives a normal life, does therapy (physical therapy, speech therapy), and is doing incredibly well. Honestly, what child doesn\u2019t do therapy nowadays? Many women write to me saying that if they had seen my profile during their pregnancy, they would have kept the child diagnosed with Down syndrome. Others say they wouldn\u2019t have had the strength to keep it. I judge no one. Every woman has the right to decide for her body and her future. What makes me happy is that through our profile we help people see things in a more optimistic light!\u201d<\/p>\n\n\n\n

Can you choose gender or IQ?<\/h2>\n\n\n\n

In Greece today, preimplantation genetic testing (PGT) is allowed only with special permission from the National Authority for Assisted Reproduction and only for specific medical reasons. Three types of testing are conducted: testing for aneuploidies<\/strong>, meaning chromosomal abnormalities such as Down syndrome (PGT-A); structural chromosomal rearrangements<\/strong>, such as translocations or inversions (PGT-SR); and monogenic disorders<\/strong>, like thalassemia or sickle cell anemia (PGT-M).<\/p>\n\n\n\n

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Relaxed regulation in the U.S.<\/p>\n\n\n\n

Strict framework in Greece<\/p>\n<\/blockquote>\n\n\n\n

According to a recent New York Times<\/em> article (\u201cShould human life be optimized?\u201d, 4\/1\/2025), a fourth form of testing, PGT-P<\/strong>, has emerged in the U.S. It uses polygenic risk scores<\/strong> to estimate an embryo\u2019s likelihood of developing common conditions like diabetes or heart disease. The accuracy and clinical usefulness of these predictions remain controversial. Furthermore, ethical concerns arise due to the lack of strict regulation in the U.S., where it is also permitted to select embryos for non-medical traits<\/strong>, such as gender<\/strong>, eye color<\/strong>, or even IQ<\/strong>.<\/p>\n\n\n\n

Ariadni Kalpini-Mavrou shakes her head in disapproval. \u201cWhether a child is intelligent doesn\u2019t depend on a single gene,\u201d she explains. \u201cIt\u2019s a combination of genetics and environment. Even if a genetic condition is found that lowers IQ, going from 100 to 80 is different from going from 120 to 100.\u201d As geneticist Ms. Pantou emphasizes, during PGT-M they look for something very specific<\/strong> \u2014 meaning they only know what they are specifically testing for<\/strong>.<\/p>\n\n\n\n

\u201cThere are conditions that aren\u2019t life-threatening but that parents might still want to know about \u2014 like diabetes. Theoretically, we have the technology to detect them,\u201d she adds. The same goes for cancer predispositions<\/strong>, such as whether an embryo carries the BRCA gene<\/strong> linked to breast cancer.<\/p>\n\n\n\n

Blue or pink?<\/h2>\n\n\n\n

In Greece, gender selection is prohibited<\/strong> (except in cases of sex-linked diseases), although it’s something Greek parents often ask about. \u201cWe’re mostly asked by people who already have three girls and want a boy \u2014 or vice versa,\u201d says the genetics professor. \u201cEspecially in some regions, gender is still an issue.\u201d.<\/p>\n\n\n\n

There have even been some comical incidents. \u201cI remember when traditional prenatal testing first began in Greece and we were checking embryos for Down syndrome. A mother called us from London and said, \u2018I’m out shopping, tell me, should I buy blue or pink?\u2019 I replied, \u2018We’re checking to make sure your baby is healthy.\u2019\u201d.<\/p>\n\n\n\n

Still, those determined to know the gender of their future child often travel to countries where gender selection is legal, such as the Middle East<\/strong> or the U.S.<\/strong> This practice is called \u201cfamily balancing\u201d<\/strong> says Dr. Zervomanolakis.<\/p>\n\n\n\n

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In a Western European country like Greece, we will never see the phenomenon of a \u2018made-to-order\u2019 child. There are countless ethical dilemmas that concern both the state and the medical community.<\/p>\n<\/blockquote>\n\n\n\n

Greece was actually one of the first countries in Europe<\/strong> to introduce preimplantation diagnosis, but \u2014 unlike other nations \u2014 it has enforced a very strict legal framework<\/strong>.<\/p>\n\n\n\n

Preimplantation testing is allowed when:<\/h3>\n\n\n\n