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Newborn screening for serious diseases: A crying need in India

Newborn Screening (NBS) has become increasingly important as a preventive public health strategy. A proper NBS programme to screen all the babies born in India can contribute greatly towards making of a 'Healthy and Happy India'.

October 25, 2019 10:02:20 am
newborn baby Some irreversible symptoms in newborns can be avoided with prompt treatment. (Source: Getty Images)

By Dr Noori Barka

You are ecstatic when your baby is born, and want to give the world to them. Few years down the line, your baby is detected with a serious irreversible disorder which could have been diagnosed and prevented by a simple blood test right after birth. Wish you knew about it earlier, isn’t it?

This is the sentiment echoed by numerous parents who aren’t aware about newborn screening and its importance. To put it simply, Newborn Screening (NBS) is a set of laboratory tests that identify serious diseases or disorders that significantly impair the health of newborns. These children generally appear normal at birth but have an inherent condition that will lead to disability or death without early detection and intervention. Several complications such as brain damage, retardation, severe motor and speech skills problems, seizures, hearing loss, stunted growth, muscle weakness, feeding difficulties are some of the irreversible symptoms that can be avoided with prompt treatment.

Global relevance

The US was first to implement the NBS programme, way back in the 1960s for detecting a single congenital condition called Phenylketonuria. Many countries have followed suit for a host of parameters. The programme has now expanded to a more comprehensive and complex screening system that can detect over 50 different conditions.

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Why is it relevant to India?

The birth rate around the world is about 138 million babies per year, and almost half (67 million) are born in the Asia Pacific region. Close to 53 million (around 80 per cent) of the births in the Asia Pacific region occur in five countries – China, Indonesia, Bangladesh, India, and Pakistan. In India, though the average annual number of births per year per 1,000 persons has decreased by 20 per cent, however with more than 25.5 million births a year, it is still the country with most births in the world.

Catering to the basic medical needs across a densely populated country like India is a difficult task. Though the programme started in 1980, it doesn’t still seem to be a healthcare priority. With no insurance coverage and lack of awareness, NBS sadly remains a domain yet to reach its full potential.

The most common disorders detected through NBS are Congenital Hypothyroidism (CH) and G6PD deficiency. In India, several thousands of babies with CH are either not diagnosed or diagnosed late each year. The deficiency of Glucose-6-phosphate dehydrogenase (G6PD), is generally asymptomatic and is often manifested as acute hemolytic anemia. Severe cases can result into cerebral palsy with mental retardation. There is an urgent need to implement a NBS screening program for CH, G6PD, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Galactosemiaand amino acid metabolism disorders.


A simple prick early, for a normal life later

NBS is performed on a small drop of whole blood sample that has been collected from a heel-stick shortly after birth, absorbed onto special collection paper, and transported to a special screening laboratory. The screening laboratory is usually a specialised laboratory with specific equipment and qualified personnel to perform NBS testing.

Affordable and accurate testing is the need of the hour

· The eight most common newborn disorders are found in amino acid metabolism, hormones and enzymes.

· Amino acids metabolism comprehends Phenylketonuria (PKU) and Maple Syrup Urine Disease (MSUD). The use of the latest generation colourant gives the benefit of superior stability and higher sensitivity compared to similar products in the market. The stable liquid standard format offers the best reproducibility.


· The hormones disorders panel embrace Thyroid Stimulating Hormone (TSH), Progesterone (17-OHP) and Thyroxine (T4). A flexible protocol (from 2 hrs to overnight) aids in reliable and timely diagnosis.

· The enzymatic panel comprises three ready-to-use homogeneous assays with stable components. The products give reliable results for early detection of Galactosemia, Biotinidase Deficiency and G6PD.

· Early detection of these panels can prevent progressive neurological problems, motor retardation, poor growth rate and seizures among other complications leading to death.

As the Indian population continues to realise the benefits resulting from successful public health strategies that have steadily decreased the infant mortality rate, NBS has become increasingly important as a preventive public health strategy. Remember, ‘a stitch in time saves nine’. A proper NBS programme to screen all the babies born in India can contribute greatly towards making of a ‘Healthy and Happy India’.

Also Read| Neonatal care: Incubation for preterm babies explained

(The writer is CEO and President – Calbiotech Inc., USA, a member of the Transasia-ErbaGroup. Views are personal.)

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First published on: 25-10-2019 at 10:02:20 am

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