Hyderabad:In a breakthrough in genetic research, doctors from NIMS Hospital Hyderabad, in collaboration with the Centre for DNA Fingerprinting and Diagnostics (CDFD), identified a new genetic defect that leads to heart and lung failure in foetuses. This defect, linked to the Serpina 11 gene, has been discovered for the first time in the world. The study, led by Dr Shagun Aggarwal, head of Genetics at NIMS, along with Dr Rashna Bhandari and Dr Ashwin Dalal from CDFD, has been published in the Clinical Genetics Journal, drawing global attention to this rare and life-threatening genetic anomaly known as lethal serpinopathy.
The discovery was made during the investigation of a tragic case involving a couple from Hyderabad whose first child was born healthy, but the second baby died soon after birth. Subsequent pregnancies also faced similar complications, with the mother experiencing two miscarriages by the fifth month. The consistent presence of lung and heart issues detected in scans during the fifth and eighth months of gestation raised suspicions of a genetic defect.