All that you need to know about Neonatal Screening

Infants are prone to certain disorders and diseases right from when they are in their mother’s womb; these conditions remain unnoticeable and thus remain undetected. Neonatal or Newborn screening is a test for infants immediately after birth to detect any conditions, disabilities, or ailments that are not very evident in the early stage. The screening looks for any form of disorders in developmental, genetic, and metabolic disorders. The test results allow the treatment of serious conditions at a pre-symptomatic stage to prevent disability and also infant mortality.

Why is it needed?

Newborns are born with rare conditions that can become serious issues if untreated. Some of the disorders that children can be born with are as follows:

Metabolic Disorder- These disorders are also referred to as ‘Inborn Errors of Metabolism. This disorder interferes with how the nutrients get utilized in the body and thus causes issues in maintaining normal metabolic functioning, further impacting the metabolism of the child.

This could further cause weakness in the child due to a lack of energy from the nutrients and thus hamper healthy development.

Blood and Hormone disorders: Newborns are prone to disorders in their blood and hormones. If these disorders go undetected, they can lead to serious ailments in the future. 

Other disorders- Certain genes that are passed on from parents can cause disorders in children even when they are undetected by parents. It hampers the mental and physical development of a child in various ways.

If the issues mentioned above are diagnosed and treated earlier on, it prevents the child from severe conditions and ailments in the future. 

The tests are done for various ailments like Congenital adrenal hyperplasia, Congenital hypothyroidism, Cystic fibrosis, Fatty acid metabolism disorders, Galactosemia, Glucose-6-phosphate dehydrogenase deficiency (G6PD), Phenylketonuria (PKU), Sickle cell disease and other hemoglobinopathy disorders and traits.

Neonatal Screening Tests

The neonatal screening tests are performed on the infants after 48 hours to 7 days after birth. Once the baby is on full feeds. The screening in the early stage provides scope for the treatment as well as prevention of ailments.

The screening tests generally vary for individual cases. However, certain tests are recommended for all newborns. The tests that are generally suggested for all newborns are the following ones:

Blood test: The blood is taken for the testing from the heel of the child. The blood is then sent to the laboratories to analyze and diagnose all possible disorders. 
Hearing tests: The kids usually develop their critical communication skills in the initial years of development. Any issue with the hearing can cause an obstacle in developing these crucial skills. Moreover, the hearing issues can go unnoticed in the initial years if not tested. Thus hearing tests are an important part of the screening process.
A urine test is also done if we have to do extended newborn screening if parents have any risk factors.

How do the Screening tests work?

The screening tests in themselves aren’t diagnostic tests for any specific ailments. They are just indicators to rule out or confirm the necessity of further tests. If the results of the test are normal, that means that the possibility of any early ailments is directly ruled out. If the test results show anything alarming, then the doctors will suggest follow-up tests in the concerned areas. 
Then specialized follow-up tests are done for the baby to see if there is a possibility of any disorders. If the tests confirm any possibility or existence of asymptomatic diseases, the doctors then suggest starting the treatment immediately, even before the symptoms appear. This provides the child with better chances for the child to recover.


Newborn or neonatal screening is a precautionary procedure to ensure the healthy development of a child. The early diagnosis and treatment make all the difference and prevent many children from lifelong impairment. It is beneficial in promoting the healthy development of the child. Although the possibility of disorders and disability is rare after a healthy birth, the chances are still very much present.
The consulting doctor will refer the child to a specialist if the results point to disease, and then the treatment is continued under the specialist supervision.  
Many parents also have concerns and questions regarding the possibility of the disorder being passed down to future children if the child has a disorder. The above concerns need to be addressed with a doctor and a genetic counselor and discussed further. Even if the chances are ruled out, it’s still safe to consider newborn screening in the future as well.
It is important to strictly follow the guidelines, dietary restrictions, and supplements provided by the doctors post the test to prevent physical and mental problems in children along with metabolic disorders.
This article was shared with Prittle Prattle News as a Press Release.
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