Doctors help Thalassemia couple deliver baby without the genetic disorder

In 2019 Pooja and Ankit name changed a thalassemia minor couple planned a second baby to help their firstborn child with the genetic disorder who required blood transfusion on a fortnightly basisWith a second baby the couple aged 33 and 35 from Uttar Pradeshrsquos Saharanpur hoped to provide a matching donor for their firstborn 3 years old and cure the disorder via stemcell transplantHowever to ensure a healthy second baby they opted for in vitro fertilisation IVFThe woman underwent three IVF cycles each requiring intensive hormonal stimulation Each cycle entailed daily injections for a minimum of 1012 days followed by egg retrieval under anaesthesia The process had to be repeated thrice to amass a sufficient pool of 1618 embryos ensuring the possibility of identifying at least one embryo free from thalassemiaDoctors at Jindal IVF Chandigarh combined in vitro fertilisation IVF technique with Preimplantation Genetic Testing PGT a breakthrough procedure reportedly used for the second time in India resulting in a healthy newborn on April 4 and hope for thalassemia major patientsldquoIVF PGT is absolutely beneficial for thalassemia and all single gene disorders where the mutation involved is known and probably the only method available which can prevent passing on the affecting mutation to future family generations It gives us a chance to select a nonaffected embryo thus preventing transmissionrdquo Dr Sheetal Jindal Senior consultant and medical director at Jindal IVF Chandigarh said ahead of thalassemia day on May 8What is thalassemiaThalassemia is an inherited blood disorder characterised by abnormal haemoglobin production leading to anaemia and potentially severe health complications It is caused by genetic mutations that affect the production of haemoglobin a crucial component of red blood cellsPatients require lifelong blood transfusions with at least one unit of blood within a maximum of 20 daysHow can IVF helpDr Manju Nair clinical director Fertility Cloudnine Group of Hospitals Bengaluru Old Airport Road told IANS that IVF with genetic testing can help reduce the risk of thalassemia by selecting embryos free of genetic mutationsldquoThis involves testing to identify carriers of thalassemia gene mutations If both partners are carriers that is they carry one abnormal copy of the gene but do not have thalassemia themselves there is a risk of having a child with thalassemia if both pass on their abnormal genesrdquo she explainedCouples with a family history of thalassemia or belonging to ethnic groups with a higher prevalence of thalassemia should consider genetic counselling before conception or during early pregnancyIn general cases screening tests in the first trimester first 12 weeks can indicate the presence of such genetic disordersldquoIVF combined with Preimplantation Genetic Diagnosis PGD or preimplantation genetic testing PGT can potentially help prevent the risk of thalassemia in certain situationsrdquo Dr Manju saidAccording to Dr Sheetal the success rate in such patients ldquois 5060 per cent and even higher because most of these females are otherwise fertilerdquoHowever ldquoIn IVF patients have to take multiple injections daily Also even after so much effort we might not get a fully matched embryo and sometimes more IVF cycles might have to be done It is also very expensive as the cost of 1 cycle might be 78 lakhsrdquo she addedldquoIVF with PGT is a wonderful treatment for couples with known genetic disorders When I see the suffering parents face with an affected child I genuinely want to help them Their whole lifetime money and energy revolve around their affected child In such cases the pain is so much that if someone can afford to some extent it can be a big saviour for the family and can bring happiness and real joy of parenthoodrdquo the doctor saidThis story has been sourced from a third party syndicated feed agencies Midday accepts no responsibility or liability for its dependability trustworthiness reliability and data of the text Midday managementmiddaycom reserves the sole right to alter delete or remove without notice the content in its absolute discretion for any reason whatsoever