New Delhi, India: A long-standing tradition of preserving a piece of the umbilical cord from a newborn led to a breakthrough in a perplexing medical mystery that had stumped numerous healthcare professionals for 14 years.
In 2010, a couple in Haryana, India, welcomed their first child through a normal delivery. Unfortunately, just ten days later, the infant developed a fever and breathing issues, ultimately passing away at six weeks due to pneumonia and sepsis after receiving treatment in the Neonatal ICU. Fast forward to 2021, after enduring four miscarriages, the same couple had another child via caesarean section, who faced similar symptoms and tragically succumbed to respiratory failure 3.5 months later.
The mystery surrounding these heartbreaking losses and recurrent miscarriages was recently unraveled thanks to the preserved umbilical cord, a vital connection between the fetus and the mother’s placenta. 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 this mutation, which, when inherited by both children, led to the onset of the disease and its complications.
Dr. Ranjana Mishra, a senior consultant in medical genetics at a Delhi-based IVF clinic called Seeds of Innocens, explained, “Having one parent with the mutation typically does not result in symptoms. However, in this case, both babies inherited the mutated gene from both parents, leading to the manifestation of the disease and associated problems.”
This groundbreaking discovery not only provided the grieving parents with answers to their past tragedies but also shed light on the importance of genetic testing and counseling for families planning to have children. By utilizing the preserved umbilical cord, medical professionals were able to pinpoint the root cause of the health issues faced by the newborns, offering a glimmer of closure amidst the grief.