New Delhi, India: Solving a medical mystery that spanned 14 years, the practice of preserving a segment of a newborn’s umbilical cord proved to be a crucial breakthrough. In a perplexing case, a couple from Haryana, known as Prakash and Sarita, faced the heartbreaking loss of two babies due to a rare genetic condition.
In 2010, their first child fell ill just ten days after birth, eventually succumbing to pneumonia and sepsis despite medical intervention. Years later, in 2021, after enduring four miscarriages, the couple’s second child faced a similar fate, passing away at 3.5 months old from respiratory failure.
The solution to the tragic pattern of deaths and miscarriages came through the examination of the preserved umbilical cord. Genetic testing identified a mutation in the CTFR gene, which is linked to Cystic Fibrosis. Further analysis revealed that both parents were carriers of the mutation, unknowingly passing it on to their children.
Dr. Ranjana Mishra, a senior consultant in medical genetics at a prestigious Delhi-based IVF clinic, explained that while having one mutated gene may not cause symptoms, the combination of both parents passing on the gene led to the development of Cystic Fibrosis in the infants.
The revelation brought a sense of closure to the couple, shedding light on the underlying cause of their previous losses and offering valuable insight for future family planning. Through the power of genetic analysis and the preservation of a simple yet significant piece of medical history, a long-standing mystery was finally unraveled.