World’s First Baby Boy Born Free of Beckwith-Wiedemann Syndrome
In a groundbreaking achievement in reproductive medicine, Dubai’s Orchid Fertility Clinic has successfully helped a couple conceive a healthy baby boy, overcoming the genetic challenges of Beckwith-Wiedemann Syndrome (BWS), a rare and potentially life-threatening genetic condition which causes birth defects and increases the risk of childhood cancers. This pioneering case marks the world’s first successful use of Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) to manage BWS risks, a milestone for the region and the global medical community.
The journey began when a 41-year-old woman sought fertility treatment at Orchid Fertility Clinic after her previous pregnancy revealed a serious fetal anomaly linked to BWS. Genetic tests identified a pathogenic mutation in the CDKN1C gene, which is associated with BWS. The condition, inherited maternally, carries a high recurrence risk in subsequent pregnancies. Given this, the experts at Orchid Fertility recommended IVF, using Preimplantation Genetic Testing for Monogenic Diseases (PGT-M), a technique that can screen embryos for specific genetic mutations before implantation.
Dr. Dimitrios Kafetzis, Medical Director & Founding Doctor and Maria Banti Lab Director at Orchid Fertility, explained, “The couple had a history of miscarriages, the last of which was because of BWS. The woman’s advanced maternal age added further risks. Our fertility experts used a combination of advanced genetic testing and IVF to help the couple, who faced a high risk of passing on BWS, successfully conceive a healthy baby. This highlights the power of reproductive genetics in preventing inherited diseases and ensuring a positive outcome for families facing reproductive challenges.”
Maria Banti continued “We began by carefully guiding the couple through the IVF process, which started with ovarian stimulation over four cycles. Through these, 57 mature eggs were collected and fertilized using a technique called Intracytoplacmic Sperm Injection (ICSI), where a single sperm cell is injected into each egg. Out of the 57 injected eggs, 41 fertilized. From the 41 embryos, 17 showed good development and were tested using Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) for a genetic mutation linked to Beckwith-Wiedemann Syndrome (BWS).
Our tests revealed seven embryos without the mutation, and further screening for chromosomal abnormalities using Preimplantation Genetic Testing for Aneuploidies (PGT-A), showed that two embryos out of the seven have the normal number of chromosomes. At last, we successfully transferred one of these healthy embryos. The pregnancy progressed well, leading to the birth of a healthy baby boy. Throughout this journey, the couple was fully informed about each step of the process. The combination of advanced genetic testing and careful IVF techniques allowed us to minimize genetic risks, giving them the best chance of having a healthy child. The couple came back for a transfer of the second healthy embryo in January 2025 and is now pregnant with their second baby. The pregnancy is progressing well.”
BWS is a complex genetic disorder. For this couple, whose previous pregnancy ended in miscarriage due to fetal anomalies linked to BWS, the dream of having a healthy baby seemed distant. However, thanks to the innovative combination of ICSI, advanced genetic testing, and Orchid Fertility’s personalized approach—including genetic counseling and multiple IVF cycles—the couple was able to achieve their dream of a healthy child.
What makes this case even more extraordinary is its status as the first known instance globally of a baby boy born free of BWS following PGT-M specifically targeting the CDKN1C gene mutation. This breakthrough offers new hope to families who might otherwise face the devastating impact of inherited genetic conditions.
Dr. Arpan David, Chief Executive Officer of Orchid Fertility Clinic, added, “We are proud to be at the forefront of reproductive genetic interventions in the UAE with the dedication and scientific excellence of our world-class team. This success highlights the transformative potential of modern reproductive technology. Through the use of genetic screening, we are not only helping couples conceive but ensuring they have the best chance at having a healthy child—something that, until recently, would have been nearly impossible for families facing complex genetic conditions.”
Genetic testing plays a crucial role in improving pregnancy outcomes, as demonstrated in this case. Orchid Fertility offers advanced tests such as PGT-M for monogenic diseases, PGT-A for chromosome abnormalities, Carrier Screening to detect inherited conditions, and PGT-SR for chromosomal translocations. These tools help couples minimize genetic risks, increase the chances of a healthy pregnancy, and ensure their embryos are free from inherited disorders.
“We’re seeing more and more couples choose genetic testing to reduce the risk of passing on inherited conditions. Whether it’s cystic fibrosis, sickle cell anemia, or other genetic disorders, these screenings provide peace of mind and increase the chances of a healthy pregnancy,” concluded Maria Banti.
This groundbreaking case not only celebrates a triumph in medical science but also offers a glimpse into the future of fertility treatments, where genetic screening and advanced IVF techniques combine to make healthy pregnancies a reality for families around the world.
Last Updated on 10 hours by News Desk 1
