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Health Information

Newborn Screening (NBS)

Many disorders in a newborn baby do not produce symptoms during the early newborn period but may lead to serious health problems when babies start oral feeding. Newborn Screening (NBS) is the screening of newborn babies between 3 – 7 days after birth to detect potential metabolic or genetic disorders.

Early detection allows treatment to start as soon as possible, which helps prevent or reduce long-term complications. Screening is usually done by collecting a small blood sample through a heel prick and placing it on filter paper for testing.

Newborn screening is of proven public health importance. In many developed countries, routine screening is done at birth for up to 50 metabolic disorders. There is a growing need to introduce universal newborn screening in a phased manner for all newborns in India.

Newborn Screening

Types of Disorders to be Screened

Group A (Screening for All Newborns)

  • Congenital hypothyroidism
  • Congenital adrenal hyperplasia
  • G6PD deficiency

Group B (High-Risk Population Screening)

  • Phenylketonuria
  • Homocystinuria
  • Alkaptonuria
  • Galactosemia
  • Sickle cell anemia and other hemoglobinopathy
  • Cystic fibrosis
  • Biotinidase deficiency
  • Maple syrup urine disease
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Tyrosinemia
  • Fatty acid oxidation defects

Screening is recommended for babies with risk factors such as previous sibling death, unexplained seizures, metabolic disorder history, critically ill newborns or consanguineous parents.

Group C (Resource-Rich Settings)

Expanded newborn screening can be done using advanced diagnostic techniques:

  • TMS (Tandem Mass Spectrometry) – screening for 30–40 inborn errors of metabolism
  • GCMS (Gas Chromatography Mass Spectrometry) – screening for around 110 metabolic disorders

This screening is usually done where specialized laboratories and facilities are available.