New Delhi, India: The age-old practice of preserving a part of a newborn’s umbilical cord led to a breakthrough in solving a medical mystery that had baffled doctors for 14 years.
In 2010, a couple from Haryana, known as Prakash and Sarita, welcomed their first child through natural birth. Unfortunately, just ten days later, the baby fell ill with a fever and breathing difficulties. Despite being placed under ventilatory support in the Neonatal ICU, the infant tragically succumbed to pneumonia and sepsis at just six weeks old.
Fast forward to 2021, after experiencing four miscarriages, the couple underwent a cesarean section to welcome their second child. Tragically, this baby also experienced similar symptoms and passed away after 3.5 months due to respiratory failure.
The mystery behind the heartbreaking losses and repeated miscarriages was finally unraveled recently with the aid of the preserved umbilical cord. Through genetic analysis, a mutation in the CTFR gene, known to cause Cystic Fibrosis, was identified in the cord. Subsequent testing revealed that both parents were carriers of the same mutation, leading to the disease and its complications in their children.
Dr. Ranjana Mishra, a senior consultant in medical genetics at Seeds of Innocens, an IVF clinic in Delhi, explained, “Having one parent with the mutation often does not result in symptoms. However, in this case, both babies inherited a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene from both parents, resulting in the manifestation of the disease.”
This case highlights the importance of genetic testing and screening to identify potential risks and conditions that could impact future generations. The use of preserved umbilical cord tissue in this instance proved to be crucial in shedding light on the genetic mutation that caused such tragic outcomes for the family.