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.
Embryos were sent to the Genetics Department at NIMS Hospital for detailed analysis. After extensive DNA and other genetic tests, the doctors identified a defect in the Serpina 11 gene, which hinders the production of crucial enzymes for the development of the heart and lungs in foetuses. The research, as detailed in the Clinical Genetics Journal, revealed that while 75 per cent of babies born to parents carrying this genetic defect are healthy, the remaining 25 per cent are at risk of developing severe genetic issues, including lethal serpinopathy. Doctors recommend that couples with a history of such genetic defects undergo thorough testing of foetal and placental samples during pregnancy. These tests could identify the presence of the Serpina 11 defect early on, allowing for timely interventions and informed decisions.
Telangana Health Minister Damodar Rajanarsimha and NIMS Director Dr Birappa were among the first to congratulate the team for the pioneering work, which could lead to new protocols in prenatal testing and genetic counselling.
