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What Is Newborn Screening And What Are Some Of The Most Important Tests?

When a baby is one or two days old, they are screened for congenital abnormalities. Newborn screening can look for certain serious health conditions at birth, which can be treated in a timely manner.

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Written By: Prerna Mittra | Updated: May 14, 2024, 4:35 PM

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Newborn Screening

It is important to screen a newborn baby, as it can assess certain fatal-but-rare and often treatable health conditions at birth. During screening, certain tests are done that include blood, newborn hearing, and heart screening. Scroll down to find out more about them, and why they are crucial.

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When Is A Newborn Screened?

According to Dr Amit P Ghawade, consultant pediatrician and neonatologist at Motherhood Hospitals, Kharghar, Mumbai, when the baby is just one or two days old, they will be screened for congenital abnormalities. Newborn screening, the doctor says, helps to look for certain serious, rare and mostly-treatable health conditions at birth. The hospital usually ensures that the baby undergoes screening before being discharged. Also Read - Spinal Muscular Atrophy: Two Crucial Screening Methods For Early Detection Of SMA In Babies

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Why Is Newborn Screening Important?

The doctor says newborn screening is crucial, as a baby can be born with a health condition but not show any symptoms during birth. If a health problem is diagnosed early during screening, it can be managed with appropriate treatment. What really matters when it comes to tackling serious health problems in a newborn baby is timely intervention.

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Blood Test

Most newborns are screened via blood tests to look for health conditions, Dr Amit says. The baby’s heel is usually pricked to get a few drops of blood, which is collected on a special paper and sent to a lab for testing. The results are out within a week generally. Also Read - Is Your Baby Normal: Why Should You Get Your Newborn Screened?

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Hormonal Problems

Hormonal problems arise when there is an imbalance of hormones, which can affect the baby’s growth and development. 'Congenital hypothyroidism' is one of the most common hormonal problems that can be detected in screening.

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Hemoglobin Issues

Hemoglobin is an essential protein found in red blood cells. It carries oxygen from the lungs to various parts of the body. According to the pediatrician and neonatologist, hemoglobinopathies (genetic condition) can affect the production of hemoglobin and lead to anemia, severe infections, and other complications. Newborn screenings can detect sickle cell disease, thalassemia, and other hemoglobinopathies. Also Read - Role Of Genetic Testing In Reproductive Health

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Metabolic Problems

Metabolic disorders are genetic conditions that affect the body’s ability to break down food and convert it into energy, the doctor explains, adding that metabolic disorders that are commonly seen in babies are phenylketonuria (PKU), maple syrup urine disease (MSUD), and galactosemia.

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Heart Screening

This is done to find out about any heart condition, or critical congenital heart defects. Pulse oximetry is done to monitor the amount of oxygen in the baby’s blood by using a pulse oximeter machine and sensors that are placed on your baby’s skin.