Couple Overcomes Rare Genetic Condition to Achieve Healthy Pregnancy

~ Advanced Genetic Testing Helps Couple Have Healthy Baby after Losing Child to Rare Immune Disorder ~

Ahmedabad, 26 November, 2024: A 30-year-old woman, Maya (name changed) successfully conceived and delivered a healthy baby after receiving treatment at Indira IVF, Ahmedabad, following the profound emotional challenge of losing her first child to a rare and fatal genetic immune condition. The couple had become apprehensive about attempting to conceive again given the genetic condition that affects the ability of immune cells to fight infection, leaving infants vulnerable to life-threatening complications. The condition, typically fatal within the first year or two of life, with hope only hanging on complex treatments, remain out of reach for many families. Their journey to parenthood was fraught with challenges until they approached the city-based hospital.

Married and deeply traumatized by the loss of their first son to Severe Combined Immunodeficiency (SCID), who succumbed to severe pneumonia at just 11 months of age, Maya and her husband had lost hope on becoming parents.A comprehensive genetic evaluation revealed that both partners were heterozygous for the genetic defect responsible for Adenosine Deaminase (ADA) deficiency, an autosomal recessive condition that meant they had only a 1 in 4 chance of a healthy pregnancy with each attempt. The team of experts at Indira IVF Ahmedabad, led by Dr. Parth Joshi, employed a ground-breaking approach using advanced Intracytoplasmic Sperm Injection (ICSI) and Preimplantation Genetic Testing of embryos, to give hope of successful outcome.

Maya underwent controlled first ovarian stimulation followed by ICSI using her partner’s sperm. Six embryos were formed and were subjected to PGT-M to detect embryos without the genetic defect. Two embryos were found to be free of the genetic condition, and both defect-free embryos were transferred together in a subsequent Hormone Replacement Therapy (HRT) cycle, resulting in a successful pregnancy and the delivery of one healthy baby.

Dr. Parth Joshi, Centre Head at Indira IVF, Ahmedabad, who spearheaded the treatment, said, “This kind of treatment offers hope to couple with genetic conditions like SCID, Thalassemia, Sickel cell anemia, a health condition which are lethal for the baby. With such advanced treatment strategies couples can have children with their own gametes rather than going for donor gametes. Our comprehensive care included nutritional and stress management support. This holistic, technology-driven approach achieved what was once thought impossible, highlighting the potential of ART in fertility treatment.“

The case highlights Indira IVF’s commitment to personalized and innovative fertility solutions. By successfully addressing the genetic challenges through advanced reproductive technologies, the team helped the couple achieve their dream of having a healthy child. Throughout the pregnancy, regular ultrasonography and genetic screenings were conducted to ensure proper fetal development, with a fetal heartbeat observed fifteen days after biochemical pregnancy confirmation. The successful pregnancy not only brought immense joy to the family but also provides hope to other couples facing similar genetic challenges.