Newborn screening tests

Newborn Screening Tests: All You Need to Know

The newborn screening test is a universal screening program designed to identify/diagnose serious diseases in a newborn right after birth. It is very important to detect genetic, metabolic, endocrine, and other diseases in newborns as it helps to provide early diagnosis to enable timely medical intervention and prevent life-threatening disabilities or disabilities.

Why is newborn screening important?

Newborn screening is very critical for newborns health because the conditions that the tests screen for can cause serious, lifelong complications in early childhood and even death. Early diagnosis of newborn diseases enables timely access to life-saving treatments. Without newborn screening, some cases of phenylketonuria (PKU) and other serious infant health conditions may go unnoticed until developmental symptoms begin to emerge.

When does the screening take place?

Newborn screening in most states happens 24-48 hours after birth. Usually the tests are conducted in the baby’s hospital nursery. If the hospital fails to conduct the tests in these time-frames, parents should contact their pediatrician to ensure their child gets screened.

How is newborn screening done?

The screening is done by collecting either a drop of blood from the baby’s heel or a swab of saliva or cells from the inside of the baby’s cheeks. These samples are sent to the lab for testing, usually within a few days. If the test result is positive, the parents will be informed when the baby is discharged from the hospital.

Types of tests Screened

  • Phenylketonuria (PKU)
  • Congenital Hypothyroidism
  • Galactosemia
  • Sickle Cell Anemia
  • Cystic Fibrosis
  • Maple Syrup Urine Disease (MSUD)
  • Congenital Adrenal Hyperplasia

These types of tests vary from state to state. So, parents should check with their hospital or their state health department to know which tests are required.

Preparation for the Test

No special preparation is required for the newborn screening test. The only thing parents need to keep in mind is to contact the nurse in case they have any concerns or queries regarding the test.

Risks of Newborn Screening and Possible False Positives

The newborn screening test has no known risks associated with it. The only risk of the tests is the possibility of falsely identifying a problem or not detecting a genetic disorder.

False-positive test results are rare but can occur due to specimen contamination (eg. Presence of maternal antibodies). To reduce the chances of false-positives, state newborn screening programs typically follow up with confirmatory tests.


Newborn screening is a critical and beneficial test in early infancy. Knowing the newborn diseases ahead of time can help in providing timely medical attention and treatments and reduce the risks of lifelong health problems or disabilities. Parents should create awareness of newborn screening tests and discuss it with their doctor or nurse.