New Delhi, India: A centuries-old practice of preserving a portion of a newborn’s umbilical cord has played a critical role in unraveling a perplexing medical mystery that had stumped numerous doctors.
Prakash and Sarita, a couple from Haryana (names changed), first encountered tragedy in 2010 when their initial baby, delivered through natural means, fell ill with fever and breathing complications just ten days after birth. Despite being admitted to the Neonatal ICU and receiving ventilatory support, the baby succumbed to pneumonia and sepsis at six weeks old.
Fast forward to 2021, after enduring four heartbreaking miscarriages, the couple welcomed another baby via caesarean section only to witness a repeat of the same tragic symptoms. Sadly, the newborn passed away 3.5 months later due to respiratory failure.
Recently, the mystery surrounding the devastating losses and miscarriages was finally uncovered with the assistance of the preserved umbilical cord – a vital connection between the fetus and the mother’s placenta. Through genetic analysis of the cord, a mutation in the CTFR gene linked to Cystic Fibrosis was identified. Subsequent testing revealed both asymptomatic parents to be carriers of the mutated gene.
Dr. Ranjana Mishra, a senior consultant specializing in medical genetics at a Delhi-based IVF clinic, Seeds of Innocens, explained, “Having just one mutation typically does not manifest symptoms. However, in this case, both babies had inherited a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene from both parents, resulting in the disease and its associated complications.”
The invaluable insight gained from the examination of the preserved umbilical cord has not only provided closure for the grieving couple but has also shed light on the importance of genetic testing and the role it can play in identifying hereditary conditions that may impact future generations. This breakthrough serves as a testament to the potential of ancient customs in modern medical practices, offering hope for families facing genetic uncertainties.