Newborn Screening (NBS) Awareness Month 2022: Test currently available for newborn screening in India, upcoming trends

Updated on Sep 08, 2022 11:32 AM IST

September is Newborn Screening (NBS) Awareness Month and here's all you need to know about current available test for newborn screening in India, current status of newborn screening testing in the country and upcoming trends in it

Newborn Screening (NBS) Awareness Month 2022: Test currently available for newborn screening in India, upcoming trends (Bayu Prakosa)
Newborn Screening (NBS) Awareness Month 2022: Test currently available for newborn screening in India, upcoming trends (Bayu Prakosa)
ByZarafshan Shiraz, Delhi

Early diagnosis of Inborn Errors of Metabolism or IEM is a challenge for paediatricians as most of these disorders do not have any symptoms in the new-born period. Most of the IEM cases are diagnosed after a few days or even after a few years of birth and by this time life threatening irreversible damage to the brain or other disability has already happened.

Newborn screening (NBS) is the most important test to pick up these disorders early so that the child can get an early intervention and treatment. September is Newborn Screening Awareness Month and here's all you need to know about current available test for newborn screening in India, current status of newborn screening testing in the country and upcoming trends in it.

Current available test for newborn screening in India

In an interview with HT Lifestyle, Dr Suresh Birajdar, Neonatologist and Paediatrician at Motherhood Hospital in Kharghar, shared, “The screening is carried out before babies are discharged from the hospital i.e soon after their birth. The conditions tested in newborn screening are known to cause serious health issues in infancy or childhood. Detecting these conditions early and treating them can prevent physical and intellectual disabilities. Newborn screening (NBS) plays a pivotal role when it comes to metabolic and genetic disorders as early detection and treatment can be beneficial in preventing intellectual and physical deficits and life-threatening illnesses.”

Talking about the process in our country, he revealed, “In India, newborn screening is done to know if the baby is having any problems such as hearing loss, congenital hypothyroidism, congenital adrenal hyperplasia (CAH), glucose-6-phosphate dehydrogenase (G6PD) deficiency and a few more metabolic conditions. Congenital hearing loss is an important condition and if not tackled before 6 months of age, may lead to permanent hearing and speech impairment. Congenital hypothyroidism is also a common occurrence in babies and one of the preventable causes of intellectual disability.”

He cautioned, “Congenital adrenal hyperplasia, if undetected at birth, can cause mortality, morbidity or genital abnormalities. G6PD deficiency can cause anemia and jaundice in children and it is a common condition in our country. Even screening for conditions such as phenylketonuria, homocystinuria, alkaptonuria, galactosemia, sickle cell anemia, hemoglobinopathies, heart problems, mucopolysaccharidosis type 1, severe combined immunodeficiency (SCID), cystic fibrosis, biotinidase deficiency, maple syrup urine disease, medium-chain acyl-CoA dehydrogenase deficiency, tyrosinemia and fatty acid oxidation defects should be considered in the newborns.”

Explaining that newborn screening is a blood test that requires a few drops of blood, collected on a special filter paper by pricking the heel of the little one, Dr Suresh Birajdar elaborated, “After allowing the paper to dry, it is sent to the laboratory, where numerous different newborn screening tests are performed. The technology used for performing these tests is called Tandem Mass Spectrometry. There is no harm done to the baby due to the heel prick. A specialized needle known as a lancet is used for each baby, and there is no risk of any infection. Over 100 metabolic and genetic conditions can be detected through screening.”

Current status of newborn screening testing in India

Pointing out that there is an increased prevalence of congenital cardiac diseases and genetic abnormalities among babies, Dr Suresh Birajdar said, “Due to the increasing awareness regarding NBS, parents are not skipping the tests as they are proactive when it comes to the child’s health. NBS has become a priority now as hospitals and doctors tend to counsel couples regarding the screening to detect various health issues in the babies. NBS is successful in many countries along with India, and parents should be encouraged to opt for the screening of their babies. The NBS is in demand due to higher metabolic, endocrine, genetic, and haemoglobin problems in babies.”

Upcoming trends in new-born screening testing in India

Inborn Errors of Metabolism or IEM lead to physical problems and damage to the brain and they can be dangerous and fatal if not detected and treated on time. Dr Suresh Birajdar revealed, “Even if a baby has any illness, sometimes he/she may not show any signs of it when they are born. NBS, on the other hand, can find and diagnose these disorders at birth and help him/her lead a healthy life. NBS tests that can be done are amino acid disorders, fatty acid disorders, organic acid disorders, endocrine disorders and hemoglobin disorders.”

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