Dr C P Ravikumar

September- Newborn Screening Awareness Month
An initiative to address the serious but rare ailments in the babies that can negatively influence their normal and healthy growth.

What is Newborn Screening?
Newborn screening involves a group of tests or investigations for health disorders in newborn babies at risk that are not found at birth otherwise.
Newborn screening checks the babies for rare but life-threatening diseases that are majorly treatable. The screening involves Blood, Hearing, and Heart screening.

Why Newborn Screening?
Your seemingly healthy baby may have born with a serious ailment; however, may not show any signs or symptoms at first.
If a serious health condition is diagnosed early with the help of newborn screening, the chances of successfully treating are very much higher.
With the help of a mere blood test, your baby can be screened for metabolic, genetic, or hormonal ailments. Sooner the diagnosis is made; efficient the results of the treatment. 1,2
The Aim of NBS
The aim of NBS is to detect pre-symptomatic congenital health anomalies in infants. It helps in improving the results in relation to the long-term fatal consequences of the disease (morbidity and mortality).

Health conditions that need newborn screening tests

The list of screening tests

Blood Test

Metabolic Disorders
  1. PKU and Hyperphenylalaninemia
  2. Tyrosinemia
  3. Methylmalonic academia
Hormonal Disorders
  1. Congenital Hypothyroidism- has a high incidence and has the ability to cause intellectual disability.
  2. Congenital Adrenal Hyperplasia- If remained undetected at birth, may result in fatal consequences.
Hemoglobin Disorders
  1. Beta Thalassemia
  2. Sickle Cell Disease
Other Disorders
  1. Galactosemia
  2. Cystic fibrosis
  3. Spinal muscle atrophy
  4. Severe combined Immunodeficiency
  5. X-Linked Adrenoleukodystrophy

Hearing Screening
Hearing screening involves investigations for hearing loss.
Congenital hearing impairment, in India, is found in 1-8 per 1000 babies screened so far. Infants with hearing impairment may develop language delay, behavioral issues, and poor academic and social performance.
It has a relatively high incidence and if failed to treat before 6 months of age, may lead to permanent hearing loss and speech impairment.

The Process:
A set of tiny earphones is placed in the baby’s ears and special computers are used to check the way baby responds to certain sounds.

Heart screening
This screening is used to detect a group of heart anomalies (congenital heart diseases), responsible for 5-10% of all infant deaths, among which, 25% of them are fatal.

The test:
Pulse Oximetry (Checks the amount of Oxygen in the blood)

NBS Policy in India
For now, there is no governmental policy for NBS in India since it has not been accepted yet. Hence, strategic universal screening program has been introduced so far.
Looking at the statistic data of newborn death due to such diseases and realizing the crucial role of NBS in its prevention, ICMR launched a pilot multi-central program in 2008 and screened 100,000 newborns for congenital hypothyroidism. It was launched in five Metropolitan cities- Delhi, Mumbai, Kolkata, Hyderabad, and Chennai.
Goa initiated a mandatory NBS for all Newborn babies, in 2008.
In 2008, Goa introduced mandatory expanded NBS for all newborns.[7]
Indian Scenario
The list of conditions for which NBS screening has been proposed:
  • Hearing loss
  • Congenital hypothyroidism
  • Congenital adrenal hyperplasia (CAH)
  • Glucose-6-phosphate dehydrogenase (GP6PD) deficiency
Need for NBS Policy in India
According to WHO, genetic services should be initiated in countries with less than 50 IMR (Infant Mortality Rate). India has an IMR score of 40, which implies the need of NBS to be introduced in India.
Out of 27 million babies live-births, near about 5:1000 are found to be suffering from hearing impairment and Congenital Heart Diseases. If these and many other congenital diseases are not diagnosed at early age and left untreated, majority of these children may suffer from permanent learning disabilities, mental retardation, behavioral anomalies and social dysfunction. These results in themselves are a matter of concern for the emotional and financial burden to the parents.
NBS is the most cost-effective and highly rational way of preventing such issues. Hence, Indian government should take into consideration these positive attributes to introduce an efficient strategy for the implementation of national policy of NBS.

Issues in India
There are a number of key issues obstructing the way of NBS program in India. These issues involve: Awareness, Cost, Public policy, Politics, and Cost.
NBS should be initiated in all the hospitals in urban areas for the common disorders at the very least. These disorders include:
  • Congenital hypothyroidism
  • Congenital adrenal hyperplasia
  • G6PD deficiency
New policies can be introduced in NBS once these programs are doing. Necessary infrastructure should be established with scouting and training more physicians.

  1. Almannai M, Marom R, Sutton VR. Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing. Curr Opin Pediatr. 2016 Dec;28(6):694-699. doi: 10.1097/MOP.0000000000000414. PMID: 27552071.
  2. Bailey DB Jr, Skinner D, Warren SF. Newborn screening for developmental disabilities: reframing presumptive benefit. Am J Public Health. 2005 Nov;95(11):1889-93. doi: 10.2105/AJPH.2004.051110. Epub 2005 Sep 29. PMID: 16195526; PMCID: PMC1449454.