Manipal Fertility achieved a rare medical feat and scripted a medical miracle by giving Mr. Jatin Dubey 38 years old (name changed) and Mrs. Anupama Dubey 35 years old ( name changed) their bundle of joy which otherwise was a farfetched dream. The couple had lost all hopes of having a normal and healthy baby as their first child was victim of a rare disease called Sandhoff. This breakthrough was achieved using Pre-implantation genetic screening (PGS) and Pre Implantation Genetic Diagnosis (PGD), wherein embryos were created through IVF and were screened to identify a single embryo without the defective gene which was implanted via IVF. Mr. and Mrs. Dubey’s first child by birth suffered from a rare disease called Sandhoff i.e. a lipid storage disorder characterized by progressive deterioration of central nervous system. Since there is no specific treatment for this disease, couple lost their child before his fifth birthday and were apprehensive at the thought of having a normal second child.Dr. Varsha Samson Roy, Chief Embryologist & Scientific Director, Manipal Fertility said, “In this case the husband was detected to be a carrier of mutation (change in gene pattern) for Sandhoff’s disease. A carrier is a person who carries the defective gene but does not suffer from the disease himself.
However there is 25% chance that his children will be affected by this disease. Considering the incidence of abnormal chromosome numbers are known to be higher in elderly mothers the couple was counseled to opt for both PGD (to eliminate the embryo with the specific disease causing gene) & PGS (to eliminate embryos which would be abnormal in numbers).”Speaking on the occasion Dr. Bina Vasan, Director & Head, Reproductive Medicine, Manipal Fertility Said, “We conducted detailed counselling sessions and explained Mr. and Mrs. Dubey the medical advancement and how we can identify this particular defect by analyzing the embryo and selecting the healthy embryo without any chromosomal defect. Pre-implantation genetic diagnosis will specifically benefit couples to have healthy children devoid of inherited disease that runs into families from generations. PGD can be offered to couples where one or both the parents have a known genetic abnormality or an affected child or relative in the family.”During 16th week of pregnancy another confirmatory test was conducted to ensure the absence of faulty gene.
Finally, Mrs. Dubey delivered a healthy baby boy weighing 2.72 kgs on January 28, 2017 at Manipal Hospitals.Pre-implantation genetic testing involves; PGS (pre-implantation genetic screening) where the embryos from genetically normal parents are screened for aneuploidy. Secondly PGD (Pre-implantation genetic diagnosis) refers specifically where one or both the parents have a known genetic abnormality or an affected child. The embryos are tested to determine if they too carry the similar abnormality. This is extremely helpful in couples with a family history of hereditary diseases commonest being thalassemia, and sickle cell anemia in the Indian scenario.Speaking on the occasion Mr. & Mrs. Dubey said, “We are completely elated looking at our healthy and genetically perfect baby which is no less than a medical miracle. Initially we were apprehensive but thanks to the efforts by doctors of Manipal Fertility who not only gave personal attention but also gave us our bundle of joy. They were a pillar of support and strength throughout this beautiful journey. I request all the parents with rare diseases not to be disheartened and make use of this breakthrough technology.”India consists of ethnically, geographically and genetically diverse population. The tradition of consanguineous marriage in certain Indian communities puts couples at higher risk. The most common genetic disorders in Indian ethnicity are Beta-Thalassemia, Cystic Fibrosis, Sickle Cell Anaemia, Spinal Muscular Atrophy and Hemophilia. According to the latest statistics around 30 percent of children suffering from rare disease die before their 5th birthday.