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Updated: July 11, 2013 12:53 IST

Newborn screening yet to catch up

Olympia Shilpa Gerald
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Awareness level is said to be low even among doctors in small cities

The birth of a baby may trigger celebrations, after the paediatrician declares the baby sound. But there are certain disorders that a simple diagnosis or clinical examination cannot reveal. Spotting some of these within the first few weeks of birth can be life-saving, and also prevent certain disabilities and serious disorders.

Newborn screening is becoming popular in metros such as Chennai but is a relatively new concept in cities such as Tiruchi.

Awareness about screening facilities and their advantages are low even among obstetricians and paediatricians, says Sudha Ramakrishnan, foetal medicine expert, Mediscan Ashvita, Thillai Nagar.

Newborn screening attempts to catch metabolic, genetic, or development disorders that cannot be detected by examining a healthy-looking baby. “The symptoms of these conditions like mental retardation maybe exhibited by the baby only after six months, when it maybe too late for serious intervention,” says Dr. Sudha.

Catching disorders early

To emphasise the need for newborn screening, doctors cite the results of the southern leg of a nationwide study by the Indian Council of Medical Research (ICMR) that proved that congenital hypothyroidism is more widely prevalent than is believed. The study that screened more than 30,000 babies for congenital hypothyroidism found that one in 800-900 babies tested positive for the condition.

Congenital hypothyroidism is one of the most preventable causes of mental retardation, indicated by stunted growth and low IQ, S. Suresh, founder, MediScan, the south Indian coordinating agency for the study, had said in a city meeting recently. .

While some developed nations have incorporated screening newborns for a few conditions, the State governments here are yet to implement such a programme, although some of them have toyed with the idea . Implementing a government initiative may require mass training of skilled nurses and paramedics to ensure the programme reaches people in remote and rural areas where most institutional deliveries take place at primary healthcare centres, says D. Saminathan, head, Department of Paediatrics, Mahatma Gandhi Memorial Government Hospital.

State initiative

Mere screening will not suffice as intervention is necessary and that calls for proper follow-up after tests to refer children who test positive to tertiary centres for treatment, says Dr. Saminathan. “Some countries have implemented newborn screening as a State initiative to reduce death and disability due to these disorders. But they have resolved or reduced the most common reasons for the death of a newborn such as birth asphyxia or breathing problems at the time of birth, low-birth weight, and sepsis or infections. But these still take precedence here over screening for congenital disorders,” says Dr. Saminathan.

Detection and treatment of conditions such as congenital hypothyroidism and congenital adrenal hyperplasia can help children lead near normal lives, say doctors. Though some metabolic disorders cannot be fully corrected, enzyme replacement or dietary modifications can prevent progression of disease and improve quality of life, says Dr. Sudha.

Number of disorders screened under government programmes varies from country to country. Some centres in Tamil Nadu offer screening for five most common disorders. While all newborns can undergo screening, it is particularly recommended for mothers who have had a history of deaths of newborn babies or scans that have shown abnormal growth, say doctors.

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