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Saharanpur, Uttar Pradesh: In a groundbreaking medical breakthrough, a couple, referred to as Pooja and Ankit for privacy reasons, have welcomed a healthy newborn after a pioneering in vitro fertilization (IVF) procedure combined with Preimplantation Genetic Testing (PGT). The couple, aged 33 and 35, embarked on this journey to find a matching donor for their firstborn child, afflicted with thalassemia, a genetic blood disorder.
The journey of Pooja and Ankit began in 2019 when they decided to expand their family to aid their firstborn, who required regular blood transfusions due to thalassemia. Their hope was to conceive a second child who could serve as a compatible donor for a stem-cell transplant, potentially curing the disorder. However, recognizing the risks involved, they opted for IVF to ensure the health of their future child.
Over the course of three IVF cycles, Pooja underwent intensive hormonal stimulation and egg retrieval procedures. This meticulous process aimed to yield a pool of embryos, from which doctors could select a genetically healthy one, free from the thalassemia mutation.
The medical team at Jindal IVF, Chandigarh, led by Dr. Sheetal Jindal, combined IVF with PGT, a pioneering technique reportedly employed for the second time in India. The result was a healthy newborn delivered on April 4, 2024, bringing hope not only to Pooja and Ankit but also to thalassemia major patients across the country.
Dr. Sheetal Jindal highlighted the significance of IVF PGT in preventing the transmission of genetic disorders like thalassemia to future generations, emphasizing its role in selecting unaffected embryos.
Understanding Thalassemia and IVF
Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production, leading to anemia and potential health complications. Patients often require lifelong blood transfusions to manage the condition.
IVF with genetic testing can significantly reduce the risk of thalassemia by enabling the selection of embryos free from genetic mutations. Dr. Manju Nair, Clinical Director of Fertility at Cloudnine Group of Hospitals, Bengaluru, emphasized the importance of genetic counseling for couples with a family history of thalassemia or belonging to high-risk ethnic groups.
Despite its potential benefits, IVF with PGT presents challenges, including the need for multiple injections and the possibility of not obtaining a fully matched embryo. Additionally, the procedure can be financially burdensome.
A Beacon of Hope for Affected Families
Dr. Sheetal expressed optimism about IVF with PGT, highlighting its potential to alleviate the suffering of families affected by genetic disorders. For couples grappling with the emotional and financial toll of caring for an affected child, this advanced reproductive technology offers a ray of hope, potentially transforming their parenthood journey.
As medical advancements continue to evolve, procedures like IVF with PGT hold promise for families navigating the complexities of genetic disorders, offering renewed hope for a healthier future.
