Newborn Screening: What Every Parent Should Know

Since 1965, when public health law mandated screening in newborns, the New York State Department of Health has provided the Newborn Screening program to every family that has given birth in a NYS hospital.

Whether there is a family history or no palpable reason for concern, the program’s sole purpose is to identify, diagnose, and treat the onset of rare diseases in newborns that may not immediately present symptoms.

The CDC reports that early diagnosis coupled with medical treatment has been proven to prevent serious illness and even death in many cases.

Jeffrey Meyers, MD, associate professor of Neonatology and associate chief quality officer for Golisano Children’s Hospital at the University of Rochester Medical Center shares information about the process, what kinds of diseases newborns are screened for, what happens when a newborn tests positive, and more. 

Why are newborns screened?

The first few months of life are important in a newborn’s life. There is still a lot of growth and development occurring as babies adjust to existence outside of the womb, such as learning to eat and move on their own.

During this critical stage of development, newborns could begin to exhibit symptoms that could alert doctors and caregivers that there may be an issue, but the reality is that many newborns do not. More often, parents will not notice any visible indications of problems with their newborn’s health. Additionally, parents who have already had completely healthy children typically do not expect that they will experience any issues with future children, but a negative screen in a newborn does not guarantee that subsequent siblings will also screen negative. Each of the conditions that newborns are tested for in New York State are rare, but there is still a small risk that a newborn could screen positive. New York State data shows that 1 in 300 babies born daily in New York will have a positive screen.

“All of the diseases we screen for we can do something about” said Meyers. “New York State has a robust system of care. Screening early means we can catch it, treat the condition, and provide appropriate follow up, intervention, and necessary supports.”

What types of diseases are newborns screened for?

In New York, the Department of Health currently tests newborns for more than 45 endocrine and metabolic disorders and critical congenital heart defects, most of which are genetic. Cystic fibrosis, sickle cell disease, and hypothyroidism are among the conditions that newborns are currently screened for. It is important to note that babies are not screened for conditions that have an adult onset or those that cannot be treated.

“New York State regularly evaluates the list of screened disorders for possible additions. The development of new treatment options means that there are more disorders that hospitals can screen for,” added Meyers.

Most recently, congenital cytomegalovirus (CMV), a virus that can cause hearing loss and other symptoms in babies, was added to the list.

A full listing of what conditions are currently on the newborn screen can be found at New York State Department of Health Screened Disorders.

What is the testing procedure and how do I receive results?

Screening for newborns is completely free of charge and is automatically provided with hospital births in New York State. Parents do not need to request testing and have the right to decline if they would like. Testing is conducted by collecting a few drops of blood from the newborn’s heel, and is the same for healthy and preterm, or otherwise sick babies.

However, if your baby is born early, the state has different criteria for when and how many tests may be administered.

Full-term babies will receive one test before discharge from the hospital. Premature babies, who often require admission into the neonatal intensive care unit (NICU), will receive several tests over time due to the complexity of the issues that they experience. These babies typically receive their tests at the time of admission, a repeat test within 24-48 hours after admission, and again directly before discharge or after 28 days, whichever comes first.

The samples collected are then sent to the state lab for processing and results are received by the family’s primary care provider or the care team in the NICU. Parents can also request that results are sent directly to them. 

What if my newborn tests positive? What happens next?

It’s easy to feel overwhelmed after receiving the news that your newborn has a positive screen result. However, it’s important to recognize that early identification is essential to treatment. It is okay to feel overwhelmed and to have a lot of questions.

Parents should rest assured that a positive screening result is just that: a positive screen. It does not definitively indicate that your newborn will have something wrong, but follow up is critical. A positive result will sound the alarm—hospital directors, as well as your newborn’s care team and primary care physician will be notified of your results and begin to determine next steps; repeat testing and referrals to specialists for additional follow up will help determine next steps as well as the development of a treatment plan if necessary.

Things you can do as a parent throughout this process:

• Identify a primary care provider for your baby before the baby is born. Bring this information with you to the hospital when you go in for delivery:

• Provider’s Name
• Address of his/her primary office
• Phone number

Put the information in your hospital bag or store it in your phone so you have it when you need it and be sure that the hospital has your up-to-date contact information before discharge. These steps will be imperative for receiving your newborn’s screening results.

Additional resources:

Newborn Screening Program

Wadsworth Center

New York State Department of Health

P.O. Box 22002

Albany NY 12201-2002

Email: [email protected]

NYS Newborn Screening Website