Earlier in 2010, Prakash and Sarita (name changed), a couple from Haryana, had their first baby by normal delivery. Ten days later the baby developed fever and breathing difficulty. He was admitted to Neonatal ICU and was put on ventilatory support .However, the baby passed away at six weeks due to pneumonia and sepsis.
In 2021, after four miscarriages, the couple had another baby by caesarean section who too developed the same symptoms and died 3.5 months later due to respiratory failure.
The mystery behind the two deaths and multiple miscarriages was solved recently with the help of the umbilical cord – a flexible, tubular formation between the foetus and the placenta of the mother – that the couple had preserved. Genetic analysis of the cord identified a mutation in CTFR gene which causes Cystic Fibrosis. The same mutation was checked in asymptomatic parents, and they were found to be carriers.
“Having one with mutation often does not cause symptoms. But both the babies had received a mutated cystic fibrosis transmembrane conductance regulator (CFTR) gene from both parents leading to the disease and complications,” Dr Ranjana Mishra, senior consultant – medical genetics at Seeds of Innocens, a Delhi-based IVF clinic, said.
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