What Can We Check About a Baby Before It’s Born?
Where Does Prenatal Testing End and “Ordering” a Baby Begin?
And what happens when even DNA can’t predict the future with certainty? A map of a biotechnology “market” that’s already making leaps forward.
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, all the tests were normal. However, after the birth, the somber look on the obstetrician’s face confirmed her suspicion that something was different about her baby.
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’s World, 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?
Preventive carrier screening, preimplantation embryo testing, non-invasive prenatal testing, and invasive genetic testing during pregnancy—today, having a child leaves almost nothing to chance. Still, chance always seems to find a way to intrude, overturning plans, certainties, and timelines.
So what can we actually control in human reproduction?
Where does prenatal testing end and embryo “selection” or custom “ordering” of babies begin?
A Rapid Rise in Testing
Testing of embryos—whether in IVF procedures or during pregnancy—has rapidly increased in recent years and is now highly thorough.
“One 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,” says Ariadne Kalpini-Mavrou, Professor Emeritus of Genetics at the University of Athens and scientific advisor to Genesis Genoma Lab, a lab specializing in genetic disease diagnostics.
“It’s 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,” she explains.
“There is the possibility of testing over 2,000 genes in the parents,” adds molecular biologist-geneticist Amelia Pantou, also a collaborator at the same lab. “It depends on what each couple wants and what they can afford. However, we cannot do carrier screening at the preimplantation embryo level—we always look for something specific.”
The genetic test to detect the syndrome author Katerina Malakate suffers from only became available in Greece last year.
“I have a rare mitochondrial syndrome that’s passed only from mother to child,” she explains. “My 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’s sisters died with only a suspicion of the condition. I’m the first in the family with a confirmed genetic diagnosis.”
The syndrome severely impacts quality of life, causing Type 1 diabetes, deafness, and muscle disease.
“The question is: If I had known before having children, would I still have had them? Yes. I’m 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.”
So far, her two sons haven’t been tested for the syndrome. At present, they’ve shown no symptoms.
The Uncertainty
What’s most challenging in genetic counseling, says Prof. Mavrou, is when a gene is found in the parents that’s associated with a disease, but without certainty.
“The hardest thing is having to say, ‘I don’t know whether the child will develop it or not.’”
For many genetic diseases, the facts are clear. But there are many others we don’t fully understand—they’re rare.
“All we can do then is say, ‘We don’t know, nobody knows, but the literature suggests most children with this mutation show these characteristics.’”
«You can test over 2,000 genes in parents. But in embryos, we can’t screen for carrier status at the preimplantation level—we always look for something specific.».
Shortly before our interview, Prof. Mavrou had a consultation with a 29-year-old woman.
“In her prenatal screening, as recommended by her doctor, she discovered she carried a very serious chromosomal abnormality. She’s healthy, and her mother had four healthy children, but now she knows she could potentially have a child with pathology.
“The more you look, the more you find”
And in these matters, the principle “the more you look, the more you find” applies. The more extensive the tests and options available, the more information prospective parents are required to process. “It 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,” says gynecologist and associate professor at the Medical School of the National and Kapodistrian University of Athens, Marianna Theodorou, speaking to “K”.
“In 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, ‘What can’t you see?’”
Previous generations didn’t 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— their environment, the temperature in their home, traffic on the road. “What I explain to the women I examine,” says Theodorou, “is that when you have a child, you have to let go of the desire for complete control. You’ll plan a trip and the child will get a fever!”
Nature knows best
For older women, chromosomal abnormalities are the most common cause of miscarriage. “Very serious chromosomal abnormalities are not compatible with life. Nature knows and ends the pregnancy,” says Dr. Mavrou. The toughest dilemmas, of course, arise when a woman is already pregnant and chromosomal abnormalities compatible with life are detected—such as Down syndrome, trisomy 18, trisomy 13, Turner syndrome, or triple X syndrome.
“Especially if a couple has struggled a lot to achieve pregnancy, the decision becomes extremely difficult,” 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.
“In Greece, that’s not the case. We don’t 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’s life might look like, what capabilities it will have, that genetic disorders have no cure, and that the decision is entirely theirs.”
“What 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’ll plan a trip and the child will get a fever!”
Obstetrician-gynecologist Dr. Ioannis Zervomanolakis, medical director of AIVF Athens—a company working with the HYGEIA IVF Embryogenesis Unit to apply artificial intelligence technology to IVF—has also been present during moments when couples had to make such difficult decisions.
“Because 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’s 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.”
“To be prepared”
Katerina Malakate’s 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. “Just to know, so I could help him from the start,” she says. Charita, too, had already answered that question from the maternity ward.
“I 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’t 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—something I used to see only on foreign profiles when I first gave birth. Rolandos is now 22 months old, lives a normal life, does therapy (physical therapy, speech therapy), and is doing incredibly well. Honestly, what child doesn’t 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’t 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!”
Can you choose gender or IQ?
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, meaning chromosomal abnormalities such as Down syndrome (PGT-A); structural chromosomal rearrangements, such as translocations or inversions (PGT-SR); and monogenic disorders, like thalassemia or sickle cell anemia (PGT-M).
Relaxed regulation in the U.S.
Strict framework in Greece
According to a recent New York Times article (“Should human life be optimized?”, 4/1/2025), a fourth form of testing, PGT-P, has emerged in the U.S. It uses polygenic risk scores to estimate an embryo’s 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, such as gender, eye color, or even IQ.
Ariadni Kalpini-Mavrou shakes her head in disapproval.
“Whether a child is intelligent doesn’t depend on a single gene,” she explains. “It’s 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.”
As geneticist Ms. Pantou emphasizes, during PGT-M they look for something very specific — meaning they only know what they are specifically testing for.
“There are conditions that aren’t life-threatening but that parents might still want to know about — like diabetes. Theoretically, we have the technology to detect them,” she adds. The same goes for cancer predispositions, such as whether an embryo carries the BRCA gene linked to breast cancer.
Blue or pink?
In Greece, gender selection is prohibited (except in cases of sex-linked diseases), although it’s something Greek parents often ask about.
“We’re mostly asked by people who already have three girls and want a boy — or vice versa,” says the genetics professor. “Especially in some regions, gender is still an issue.” There have even been some comical incidents.
“I 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, ‘I’m out shopping, tell me, should I buy blue or pink?’ I replied, ‘We’re checking to make sure your baby is healthy.’”
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 or the U.S. This practice is called “family balancing,” says Dr. Zervomanolakis.
In a Western European country like Greece, we will never see the phenomenon of a ‘made-to-order’ child. There are countless ethical dilemmas that concern both the state and the medical community.
Greece was actually one of the first countries in Europe to introduce preimplantation diagnosis, but — unlike other nations — it has enforced a very strict legal framework.
Preimplantation testing is allowed when:
- The parents are carriers of chromosomal abnormalities or monogenic diseases.
“In Greece, for example, about 8% of the population are carriers of thalassemia, so there is a real chance that both partners are carriers. With preimplantation diagnosis, we can eliminate the 25% risk of homozygosity, i.e., having a child with thalassemia,” says Dr. Zervomanolakis. - There have been three or more first-trimester miscarriages or three or more failed IVF cycles.
- The mother is aged 40 or older.
Source: https://www.kathimerini.gr/society/563617465/giatre-na-diavasoyme-ta-gonidia-toy-paidioy/