New Delhi: Hyderabad-based institutions, the Department of Medical Genetics at Nizams Institute of Medical Sciences (NIMS) and the Centre for DNA Fingerprinting & Diagnostics (CDFD), observed a couple facing repeated pregnancy complications despite not being related by blood. The couple went through two heartbreaking pregnancy terminations and the tragic loss of a newborn. In each case, fluid buildup around the chest and heart area was detected. This consistent observation led to a deeper investigation by the medical team.Unveiling the SERPINA11 mutation During the 23rd week of one pregnancy, an ultrasound revealed fluid surrounding the heart of the fetus. Given the couples history, genetic testing through amniocentesis was conducted. Despite the pregnancy being terminated, the fetus was examined, revealing swelling under the skin, subtle facial differences, and cysts in the chest and abdominal organs. Following this, doctors from NIMS and CDFD conducted advanced DNA sequencing tests, leading to the discovery of a previously unknown mutation in the SERPINA11 gene.Impact and Identification of Lethal Serpinopathy The mutation in the SERPINA11 gene is linked to a severe condition termed Lethal Serpinopathy. The gene plays a role in stabilizing connective tissues by inhibiting certain enzymes. In affected fetuses, the absence of the SERPINA11 protein results in life-threatening complications. The study, to be published in Clinical Genetics in September 2024, marks the first identification of this condition worldwide.Telangana Health Minister Damodar Raja Narasimha praised the research team, highlighting the global recognition this achievement brings to the state. The discovery opens new avenues for research into genetic disorders and fetal development. Further studies are essential to fully understand the SERPINA11 genes role, its structure, and how it impacts tissue stability.
