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Newborn Screening: Why It Is Needed And How It Is Done?

With the advancement in technology, diseases can now be diagnosed well ahead of time and treated early. Newborn screening helps determine risk of medical conditions in babies.

Written by Longjam Dineshwori |Published : September 27, 2022 5:08 PM IST

Every parent wants their baby to grow up healthy and free from any diseases. Few diseases are apparent from birth, there are chances that child might born healthy but, unfortunately, may have an underlying disease which may not manifest at birth. But the good thing is today the medical science has become so advanced that babies can be diagnosed with diseases well ahead of time and they can be treated well. There comes the role of newborn screening.

In an exclusive article shared with TheHealthSite, Dr Nitu Mundhra, Lead Neonatologist, Wockhardt Hospitals, Mira Road, tells us all about newborn screening and the various tests involved.

What is newborn screening?

Newborn screening is a group of various tests which are done to identify some targeted diseases even before the symptoms of the medical condition appear, helping in timely intervention and effective treatment.

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Newborn screening is a vital tool to look for medical conditions that cannot be seen at time of birth, but many babies have it and are diagnosed late which can lead to lifelong damage, disability and mental retardation. Even the families without any history of such diseases may have babies born with this medical issues. Hence it is advisable to get screening done.

Screening babies can save their precious life and timely intervention can prevent disabilities. It will be imperative for the parents to speak to their doctors and clear the doubts regarding these tests performed in the newborn babies. Due to limited understanding and knowledge, a lot of parents do not volunteer to have tests administered to their babies. So, it's important to have some basic understanding of the tests.

How is newborn screening done?

A typical newborn screening is done by heel prick method that is done within the first week of life, where a few drops of blood is collected on a filter paper and sent for analysis. The test can identify rare and treatable conditions such as hypothyroidism, congenital adrenal hypoplasia, cystic fibrosis, severe combined immune deficiency, and various metabolic disorders.

Newborn screening also includes a screening hearing test, for which tiny earphones are placed in the baby's ears and the results are interpreted as how the little one reacts to sound.

Screening of critical heart disease, which needs immediate interventions, is done by a very simple test called pulse oximetry. Through this test, the amount of oxygen in the baby's blood is monitored using a pulse oximeter machine which is attached to babies hand and foot if the screening is abnormal baby my required for the tests.

Most babies' screening results are normal, even if your baby's results are abnormal do not panic; it simply means that she needs to undergo further confirmatory tests for diagnosis.

Try to seek timely consultation and follow advice and guidelines given by your doctor.

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