Health News

September 24, 2019

An Overview of Newborn Screenings

September is Newborn Screening Awareness Month, a time dedicated to raising awareness about the Newborn Screening Program among new and expectant parents, health care professionals, and the public. 

In the below Q&A, we answer some frequently asked questions and provide some key information to help guide parents through the screening process so by the time she sees the babies in her office, any health concerns are identified and can properly be addressed.

Q. Why does my baby need newborn screening?

Although most babies are born healthy, some infants may have a serious medical condition that does not show symptoms until later on in life. Usually affected infants come from families with no previous medical history of the condition, which makes it difficult to screen for diseases from family history alone.  Screening tests can help identify babies who need further testing. If confirmatory testing is positive, these infants can be treated early which can help prevent complications.

Q. What diseases are detected by the Newborn Screening Test and how is the testing performed?

Newborn screening is a state mandated public health program that screens for certain diseases. They are part of standard hospital procedures and parents do not need to ask to have it completed.  Typically, there are three components to the newborn screen.  This screening occurs within the first 24 to 48 hours after a baby is born.

  1. The Blood Test - A health care provider will take a few drops of blood from a baby’s heel via something called a “heel stick”. The collection is transferred onto a sterile, absorbent filter paper and delivered to a screening lab.  Although testing time varies, blood results are usually ready within two weeks after a sample is received at the lab. Your pediatrician is notified of the results.
  2. Hearing Test - There are two different tests that can be used to screen for hearing loss in babies. These tests are done while the baby is asleep and take 5-10 minutes. Parents receive the results of the hearing test prior to hospital discharge.  
  3. Pulse Oximetry Test - This is a non-invasive test where a painless sensor is used to measure oxygen levels in the blood. This test allows us to screen for congenital heart defects. The results of the testing are given to the parents prior to hospital discharge.

Q. What happens if there is a positive screening test? 

Patients with positive screening tests should have confirmatory testing done as quickly as possible and are referred to a pediatric specialist experienced in the diagnosis and management of the specific condition for definitive diagnosis and treatment, if needed. The pediatrician or primary care provider is responsible for ensuring that newborn screening has been completed and that all positive screening results are followed until a diagnosis is confirmed or excluded. 

Written by Summit Medical Group, reviewed by Dr. Subhasis Maitra and Dr. Jennifer Maitra.