Why your baby should be screened?

-Dr. Dinesh Raja

“Sir Please help my son.” That one single appeal from her shook my heart within and made me sure to do something about the problem.
The problem which is preventable and treatable, but if ignored, scars the entire family for life. 

As I glanced outside my OPD’s window, it was raining gleefully, fine peaceful showers, accompanied by soft breezes here and there. It was a good Monday to be alive, good day to treat patients. 
Around 10.35am, a chubby boy with a wide smile walked in along with her 30 something young mother. 
Her oval face was filled with horizontal deep furrows, and with the utmost concern for her 7yr boy, she was earnestly asking me, whether his son’s condition, Intellectual Disability  be cured completely. 
I went through the thick file and found out he was suffering from Congenital Hypothyroidism. 
That is very sad. 
I tell you why, If a baby born in the Metro city like Mumbai has not been screened and treated for something which could have been easily preventable, just think about the rest of the state, the nation, the world!

So here we are discussing New Born Screening.

1. What is it?
When your baby is 1 to 2 days old, he has some special tests called newborn screening.   Newborn screening checks a baby for serious but rare and mostly treatable health conditions at birth.

2. What all it includes?

a. Metabolic disorders

i. phenylketonuria (PKU)

ii. methylmalonic acidemia

iii. maple syrup urine disease (MSUD)

iv. tyrosinemia

v. citrullinema

vi. glucose-6-phosphate dehydrogenase (G6PD) deficiency 

b. Hormonal disorders

i. congenital hypothyroidism

ii. congenital adrenal hyperplasia

c. Blood Disorders

i. sickle cell disease

ii. beta thalassemia

d. Hearing disorders

3. When is it done?

a. Ideally: 48-96 hrs after birth

4. How is it done?

The samples are collected by skilled nurses or paramedical experts. A few drops of blood are taken from the baby’s heel on a special paper.The technology used: Tandem Mass Spectrometry.

5. Why should the parents care?

a. Intellectual Disability 

i. Congenital hypothyroidism also has a high incidence and is the most important preventable cause of intellectual disability. ^2

b. Hearing loss

i. Hearing loss has a high incidence, and if not corrected before 6 months of age, may lead to permanent hearing and speech impairment. ^2

c. Enabling prevention of the birth of further affected children, which reduces the parents’anxiety.

d. Huge cost savings on special education which will further lead to reduced social burden.

6. Why should the Govt and Lawmakers care?

a. In India, infant mortality is higher compared to other developed countries. Many newborns are being susceptible to various diseases that are not visible at the time of birth but affect babies later in their lives.

7. The Current Scenario

In India, NBS is not a mandatory test and the health policies do not consider NBS under the thrust area and are engaged in caring for other infections, morbidities, and mortality, but not the defects and disabilities. 

Challenges Associated with NBS in India

• Early discharge from the hospital leads to the non-collection of samples and a delay in early diagnosis.

• A huge population leads to a high incidence rate (1:1500).

• Less than 5% of babies are screened.

• Lack of awareness (clinicians and parents).

• A national or state-level public NBS programmeneeds to be implemented.

8. How can we make India better place for newborns and babies?

Central and State governments must take stringent steps for making newborn screening testing a part of the national program. To begin this, the testing centres, funded by the state or center governments, should be the reference centres for diagnosis, therapy, and prenatal diagnosis.

Although, Rashtriya Bal Swasthya Karyakram(RBSK) under the National Rural Health Mission (NHM) is being implemented in many parts of India to reduce child mortality. It aims at early identification and intervention from birth to cover four diseases, which include defects at birth, deficiency, disorders, and developmental delays, including disability. ^4

Also, there is a need to run the NBS programme at a national level, and for this, a public-private partnerships can be considered, so that every newborn is going to avail the benefits of NBS. Initially, large government hospitals in major cities should kick-start the process. Later, move to Tier 2/ Tier 3 levels, using the existing health infrastructures, and setting up the new infra.

9. What can you and me do?

a. Spread the word! Talk about it!
Let the masses know about it!

I hope you and me create a world where in babies don’t have to suffer due to ignorance of us, the adults.  
I believe there will be a day, where no child will be left at the hands of fate.

Thank you.

Yours Only,
Dr. Dinesh Raja,
The lover of babies. 

For those who love in depth – knowledge, cheers to you and here’s a special thing I have created just for you! 🙂

10. On Ground Practical Approach

a. Category A (all newborns): 
Screening for congenital hypothyroidism and hearing should be a must in Indian scenario. Screening for CAH and G6PD deficiency may be added in a phased manner. 

b. Category B (High risk screening): 
Screening for the following disorders should be conducted in the high risk population (consanguinity, previous children with unexplained intellectual disability, seizure disorder, previous unexplained sibling deaths, critically ill neonates, newborns/children with symptoms/ signs/investigations suggestive of inborn errors of metabolism). 

These conditions include Metabolic disorders and hemoglobinopathies.

c. Category C: Screening 
(in resource-rich setting/expanded screening) 
for 30-40 inherited metabolic disorders may be offered to ‘well-to-do’ families, especially in urban settings where facilities for sending sample to laboratory are available.

11. Interesting thing to know about the concept of  ‘Screening’

a. In 1968, Wilson and Jungner ^3 proposed the following criteria for inclusion of a condition in screening: 
(i) condition should have an important health problem/frequency; 
(ii) test should be acceptable to the population (reliable/simple); 
(iii) disease does not manifest at birth/ routine examination; 
(iv) treatment will prevent mortality and morbidity; 
(v) delay in diagnosis will cause irreversible damage; and 
(vi) screening is cost-effective.

12. Statistics →Number’s matter

According to data provided by Indian Paediatrics, in India, the prevalence of inborn errors of metabolism is 1 in 2,497 newborns; the incidence of congenital hypothyroidism is 2.1 per 1,000; and G6PD deficiency is 2–7.8%.


1. https://kidshealth.org/en/parents/newborn-screening-tests.html

2. https://www.indianpediatrics.net/may2015/may-373-374.html

3.  Wilson JMG, Jungner G. Principles and Practice of Screening for Disease. World Health Organization Public Health Papers, No. 34; 1968. Available from: http://whqlibdoc.who. int /php/ WHO_PHP_34.pdf. Accessed September 28, 2014.

4. https://timesofindia.indiatimes.com/blogs/voices/newborn-screening-test-need-of-the-hour-in-india-for-healthy-child-growth-development/

5. https://www.hindustantimes.com/lifestyle/health/newborn-screening-nbs-awareness-month-2022-test-currently-available-for-newborn-screening-in-india-upcoming-trends-101662615543211.html

6. https://www.marchofdimes.org/find-support/topics/parenthood/newborn-screening-tests-your-baby

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