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An age-old practice of keeping a portion of a newborn's umbilical cord helped solve a 14-year-old mystery that had baffled numerous medical professionals.
A Haryana couple gave birth to their first child normally earlier in 2010. After ten days, the infant started to have fever and breathing problems. He was placed on a ventilator and admitted to the Neonatal Intensive Care Unit. But passed away at six weeks due to pneumonia and sepsis.
Later in 2021, after four miscarriages the couple again gave birth to another baby through the cesarean process but the infant developed the same symptoms and died at 3.5 months due to failure of the respiratory system.
The mystery behind the deaths of multiple children and miscarriages was resolved after doctors did a genetic analysis of the umbilical cord that the couple had preserved. The umbilical cord is a flexible, tubular formation between the fetus and the placenta of the mother. After studying the same, doctors found mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene cause the CFTR protein to malfunction and parents were found to be carriers.
Mutations in the CFTR gene cause the CFTR protein to malfunction or not be made at all, leading to a buildup of thick mucus, which in turn leads to persistent lung infections, destruction of the pancreas, and complications in other organs. Cystic fibrosis is an example of a recessive disease.
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