Newborn screening helps in identifying conditions that can affect a child’s long-term health or survival. Early detection, diagnosis, and intervention can prevent death or disability and help children to reach their full potential and lead a near-normal life1. An NBS test looks for developmental, genetic, and metabolic disorders in the newborn and allows timely
management of the condition before the development or progression of the symptoms/disorder2
Screening is not a confirmatory diagnosis and requires further investigations which can be done by Genetic testing3,4
Genetic testing helps in –
Establishing or confirming diagnosis for a newborn screened positive during the screening
Determining whether a newborn has a chance of having a genetic disease that may show up later in life.
In cases where a newborn is presented with a family history of a particular disease.
Information from these tests can help you make decisions about preventing or slowing the progression of the disease.
Newborn screening tests are available from the Basic screening panel which detects 5 disorders to Expanded panel which detects 50+ disorders.
3. Kapoor, S., & Kabra, M. (2010). Newborn screening in India: current perspectives. Indian pediatrics, 47(3), 219-224.
4. Kamath, S. S. (2015). Newborn Screening in India.