Over 150 newborns screened for genetic disorders at BJMC’s clinical genetics centre
The centre, the first of its kind at a government hospital in Maharashtra, was established under the state’s Maternal and Child Health Programme in collaboration with the Maharashtra University of Health Sciences (MUHS), Nashik.
The Centre of Excellence in Clinical Genetics at B J Medical College (BJMC) and Sassoon General Hospital (SGH) has screened over 150 newborns for genetic disorders since its launch in October last year.
The centre, the first of its kind at a government hospital in Maharashtra, was established under the state’s Maternal and Child Health Programme in collaboration with the Maharashtra University of Health Sciences (MUHS), Nashik.
Offering a range of advanced services under one roof, the facility provides clinical examinations, counselling, genetic testing (including karyotyping), and newborn screening for congenital hypothyroidism. Antenatal diagnostic services for common thalassemia mutations and sickle cell analysis are also conducted in association with the Department of Obstetrics and Gynaecology.
Out of 86 newborns and children who underwent specialised genetic tests, karyotyping confirmed 20 cases of Down syndrome and one case of Turner syndrome. Additional diagnoses included congenital nephrotic syndrome (CNS), a rare genetic kidney disorder, and several minor genetic anomalies.
Using Tandem Mass Spectrometry (TMS) and Gas Chromatography-Mass Spectrometry (GC-MS), two cases of amino acid disorders were identified, conditions that affect the body’s ability to process proteins. Among 1,961 newborns screened for congenital hypothyroidism, four tested positive.
The centre also completed 25 thalassemia mutation analyses and diagnosed four cases of sickle cell disease, both inherited blood disorders requiring lifelong care.
Dr Aarti Kinikar, head of the paediatrics department at BJMC, said, “We rely on private donors and corporate CSR funding to offer these expensive tests either free or at minimal cost. Many of our patients come from economically weaker backgrounds and often need lifelong follow-up and treatment. As genetic disorder cases rise, we aim to expand our screening, but continued donor support is essential.”
Dr Eknath Pawar, dean of BJMC and SGH, stressed the importance of early detection.
“The growing number of diagnosed cases reflects both the burden of genetic disorders and the value of timely testing. Early diagnosis helps families make informed health decisions and begin treatment promptly,” he said.
