Newborn Screening

Newborn Screening

What is newborn screening?

Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorders that aren’t otherwise apparent at birth. In India these tests are not yet done as a part of routine procedure. However, your health care provider will give you the details during your last trimester if you ask for the details.

How is it done?

All of the screens are performed on one tiny sample of blood obtained by pricking the baby’s heel. After the infant’s heel is pricked, the drop of blood that forms is placed on an absorbent card and allowed to dry. Once it is dried, it is mailed directly to to a special newborn screening laboratory. The sample is usually taken on the day of discharge from the hospital or no later than 48 hours of age.

Why is it done? 

Many of the disorders are  metabolic disorders and interfere with the body’s use of nutrients. These nutrients are needed  to maintain healthy tissues and produce energy.  Other disorders that screening can detect include problems with hormones or the blood. In general, metabolic and other inherited disorders can hinder an infant’s normal physical and mental development in a variety of ways. Parents can pass along the gene for a certain disorder without even knowing that they’re carriers.

What do the results mean?

With a simple blood test, doctors often can tell whether newborns have certain conditions that could eventually cause problems. Even though these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development. If the results come back positive then one needs to further evaluate the child. Understand that screening is not a confirmatory diagnosis and requires further investigations. This would mean that your child would be probably referred for further lab tests or would be referred to a specialist in the specific field.

Should I Request Additional Tests?

If you answer “yes” to any of the questions below, talk to your doctor and perhaps a genetic counsellor about additional tests:

• Do you have a family history of an inherited disorder?
• Have you previously given birth to a child who’s affected by a disorder?
• Did an infant in your family die because of a suspected metabolic disorder?
• Do you have another reason to believe that your child may be at risk for a certain condition?