Sassoon's centre for genetics tests newborns, warns of rare disorders
Pune: Jyoti has seen her first-born go through regular blood transfusions due to her sickle cell and thalassaemia conditions.
So she was fearful and hopeful at the same time about the genetic test reports of her unborn child at Centre of Excellence in Clinical Genetics in the paediatric ward of Sassoon General Hospital last October.
The ante-natal tests showed no anomaly and she delivered a healthy baby last month.
Dr Pragathi Kamath, associate professor in the paediatric department of BJ Medical College and Sassoon General Hospital, said the woman knew about the centre since she would frequent the hospital blood transfusions for her first-born. The doctor said had the test indicated thalassaemia in the fetus, they could have recommended medical termination.
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"Once she was sure that the unborn baby is healthy, she carried on with her pregnancy. We counselled both parents and we will test the baby again after three months," Dr Kamath, in-charge of the centre, said.
So far, the centre has tested hundreds of babies for early diagnosis of genetic diseases and conditions. Of the 111 children checked so far for genetic disorders since Oct 2024, 20 have been diagnosed with Down Syndrome, 15 with rare genetic disorders and two with ante-natal thalassaemia and sickle cell anaemia.
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They also diagnosed congenital hypothyroidism in two infants before the symptoms kicked. The centre uses the heel-prick method, also known as the blood spot test or the Guthrie test, wherein a small sample of blood is collected from the baby's heel and screened for genetic conditions.
Dr Aarti Kinikar, head of the paediatric department at the hospital and nodal officer, said they have tested all 540 babies born in the hospital since April for congenital hypothyroidism.
The numbers, she said, are not indicative of high prevalence because they are a referral centre and thousands come for diagnoses and treatment.
She added, "Since we could diagnose the two babies with congenital hypothyroidism even before the symptoms appeared, we can start the right medications. Often, in such cases, the symptoms appear after six months which by then is too late, and the child has already lost crucial mental development.
The right medicines help them become healthy."
Parents are counselled and connected to the district early intervention centre at Aundh Govt hospital. The Sassoon centre also provides treatment in some cases, exercises and physiotherapy to improve the quality of life for these children. "Down Syndrome cannot be treated but with early intervention the child can live an independent and quality life," Dr Kinikar added.
One of the two babies with congenital hypothyroidism is undergoing treatment, and the parents will visit for follow-ups every month. The centre also has a regular OPD every Monday for genetic conditions or diseases.
"We have three more suspected cases of congenital hypothyroidism and will soon conduct confirmatory tests. The heel prick test is a screening test and a confirmatory test will determine the condition," Dr Kamath added.
Head: Catching The Condition Early
The centre, the first-of-its-kind in any govt hospital in Maharashtra, offers specialized diagnostic services for genetic disorders
These include neonatal testing and screening for conditions like hypothyroidism, thalassaemia and sickle cell anaemia. It also provides genetic counselling and comprehensive patient examinations
All stable babies are tested for thyroid hormone levels shortly after birth. These tests are common in private hospitals but not in govt hospitals
Congenital hypothyroidism results from the absent or under-developed thyroid gland or the one that developed but cannot make thyroid hormone
An undiagnosed case of congenital hypothyroidism can cause permanent brain damage
quote
Early diagnosis is crucial because in the first two years the baby's brain develops rapidly and those changes are permanent. Usually, pregnant mothers are checked for thyroid levels to ensure that the baby is born healthy. It is also important to note that if the treatment starts early, the baby grows up healthy
Dr Parag Gaikwad I Past president of Indian Association of Paediatricians, Pune
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