New Delhi, India: A remarkable discovery has been made in the medical world through the ancient practice of preserving a part of a newborn’s umbilical cord. This discovery helped solve a 14-year-old mystery that had puzzled many doctors and left a couple from Haryana, India in deep sorrow.
In 2010, a couple (referred to as Prakash and Sarita) welcomed their first child through normal delivery. Unfortunately, the newborn fell ill shortly after birth, developing a fever and breathing difficulties. Despite being treated in the Neonatal ICU and receiving ventilatory support, the baby tragically succumbed to pneumonia and sepsis at just six weeks old.
Fast forward to 2021, after enduring four miscarriages, the same couple had another child delivered via c-section. Tragically, this newborn exhibited similar symptoms as their first child and passed away at 3.5 months old due to respiratory failure.
The mystery behind the tragic losses and miscarriages was finally unraveled with the help of the preserved umbilical cord. Through genetic analysis, a mutation in the CTFR gene, responsible for Cystic Fibrosis, was identified. Further testing revealed that both parents were carriers of the mutation, which had been passed on to both deceased children, leading to the disease and subsequent complications.
Dr. Ranjana Mishra, a senior consultant in medical genetics at a Delhi-based IVF clinic called Seeds of Innocens, explained that while having one parent with the mutation may not cause symptoms, inheriting mutated genes from both parents can result in serious health issues. This revelation shed light on the underlying cause of the children’s illnesses and provided closure for the grieving parents.
The use of genetic analysis in identifying inherited conditions like Cystic Fibrosis highlights the importance of advancements in medical technology in diagnosing and treating rare diseases. This case serves as a poignant reminder of the complexities of genetic disorders and the significance of early detection in preventing future tragedies within families.