New Delhi, India – A decades-old tradition of preserving a part of a newborn’s umbilical cord has led to a breakthrough in solving a 14-year-old medical mystery that had baffled numerous doctors. In a poignant story that unfolds over the years, a couple from Haryana, who faced the devastating loss of their babies and multiple miscarriages, finally found answers with the help of this unusual practice.
In 2010, Prakash and Sarita (pseudonyms) welcomed their first child via normal delivery. Tragically, just ten days later, the infant fell ill with a fever and breathing difficulties, ultimately succumbing to pneumonia and sepsis after six weeks in the Neonatal ICU. The couple’s world shattered once again in 2021 when their baby, born through a caesarean section after four miscarriages, experienced similar symptoms and passed away 3.5 months later due to respiratory failure.
The key to unraveling the mystery behind the heartbreaking losses lay in the preserved umbilical cord, a vital link between the fetus and the mother’s placenta. Through genetic analysis, experts discovered a mutation in the CTFR gene, known for causing Cystic Fibrosis. Further testing of the asymptomatic parents confirmed them to be carriers of the same mutation, which when inherited by both babies resulted in the disease and its complications.
Dr. Ranjana Mishra, a senior consultant in medical genetics at a Delhi-based IVF clinic, Seeds of Innocens, explained the significance of the genetic findings. While having just one parent carrying the mutated CFTR gene may not always manifest symptoms, the inheritance of two mutated genes from both parents can lead to the development of the disease in children, as tragically observed in this case.
The power of preserving a small piece of the umbilical cord, a tradition steeped in history and significance, proved instrumental in bringing closure to a family that had suffered immeasurable loss. In a tale of resilience and perseverance, the couple’s journey serves as a poignant reminder of the importance of genetic testing and family medical history awareness in unlocking the mysteries of hereditary conditions and finding answers to long-standing medical puzzles.