Newborn Screening Basics

Kerrianne Fry, MS, MPH, CGC is a member of the Metabolism/LSD and Cardiovascular Special Interest Groups and is currently a genetic counselor within the Newborn Screening and Research Clinics at Geisinger.


Newborn screening is a group of screening tests performed shortly after a baby is born, typically while they are still in the hospital. It includes an evaluation of hearing, heart function and specific conditions detectable via blood. The goal of this type of testing is to look for critical conditions that, while not immediately noticeable, can impact the long-term health of a newborn. This allows for early detection, diagnosis and intervention to improve a child’s quality of life as well as reduce risk for disability or even death.

These procedures include:

  • A hearing screening that is performed by playing tones in the newborn’s ears and measuring the response. Identifying hearing loss in a newborn allows the family to seek interventions to reduce barriers in language development.
  • A heart screening uses a monitor (pulse oximetry) to measure the amount of oxygen in the baby’s blood. This can identify heart or other related causes for low blood oxygen levels. Additional screening and imaging may be needed to identify the health concern. Some individuals may require medication or surgical intervention.
  • Blood droplets are collected from the newborn’s heel and screened for specific rare conditions including hormone imbalance (endocrine), inability to breakdown food appropriately (metabolic), blood (hematologic), and genetic conditions. This testing takes approximately 3-5 days to complete.

Newborn screening is a public health service required for every baby born in the United States.

It is important to note that a screening test cannot confirm or rule-out a condition; additional diagnostic testing or imaging is necessary to determine if a condition is truly present.

When these screening tests show abnormalities, a patient is referred to a treatment center to meet with a care team which includes a genetic counselor, like myself, to help the family navigate the results.  During my time as a genetic counselor, I’ve had the opportunity to meet a woman named Ashley through our state’s department of health newborn screen follow-up technical advisory board. Ashley serves as a parent advocate on the board and provides insight from the parent perspective. Ashley’s child was diagnosed with two conditions after abnormal results were identified by newborn screening: Maple Syrup Urine Disease (MSUD) and Cystic Fibrosis (CF).

What Happens When the Newborn Screen is Abnormal?

For abnormal results, repeat testing or imaging is typically first recommended. Individuals may be referred to a specialized physician for diagnostic evaluation. Due to the timing of symptom onset and critical nature of these conditions, newborns will need to be evaluated by the specialist within a few hours to a few days after the abnormal result is identified. The timing of this evaluation depends on which screening test returned an abnormal result.

Receiving an abnormal newborn screen result is not typically something a parent anticipates. In Ashley’s case, her pediatrician reviewed her child’s newborn screen results and emphasized the importance of evaluation at a specialized treatment center based on those results. While at the treatment center, the care team explained that MSUD is a condition that occurs when the body is unable to breakdown certain protein elements present in many foods including milk and meat. Consumption of these foods can lead to severe health concerns due to toxic overload of these specific proteins. CF is characterized by buildup of mucus in the airways, digestive system, and other organs, leading to frequent infections, permanent organ damage and severe breathing problems if untreated.

Genetic Counselors’ Role in Newborn Screening

After diagnosis, genetic counselors step in to act as a support for the family, provide resources and condition information and help families navigate the medical community. Many of the conditions screened for within newborn screening have an underlying genetic cause, and a conversation with a genetic counselor can provide expert insight. Knowing whether a genetic cause is present can help families to understand the chance of having another child with the condition and help other family members understand their own risks when family planning. For some conditions, having a genetic explanation can help the medical providers determine appropriate management for the best outcomes for the child.

Following her child’s diagnoses, Ashley recognized the challenge of learning how to care for her child and their diagnoses while also trying to heal post-delivery. For many families, this can feel like an overwhelming and isolating time. Although healthcare providers can teach you how to care for your child, they aren’t always able to provide the support network a parent may desire. This is where genetic counselors can help.

As a genetic counselor, I step in to support parents by providing them with informational material about the condition as well as condition-specific organization and support group information. For many conditions evaluated on newborn screening, condition-specific support resources have been developed which can connect families and help parents build their knowledge and confidence in providing day-to-day care for their child. After a final diagnosis is provided and the kids begin to age, I also discuss the opportunity for educational and family-oriented condition-specific conferences and kid friendly camps that help continue building the family’s support network. Lastly, I work with families to ensure their daycare/school understands how to best care for the child. Ashley was able to access these resources with the help of a genetic counselor.

Today, Ashley describes her life as “beautifully chaotic.” Her family has become stronger through this whole process and finds hope in the innovations being discovered and implemented every day to help children with CF and MSUD reach an ever-greater potential in life.

Ashley’s advice to parents is to “view the moment of diagnosis as a yellow light, or a pause in life. It shouldn’t stop a parent from thinking that their child has the same potential that every other child has. It may take more time, resources, or networking, but it doesn’t stop their capacity or excitement for life. And equally importantly, it doesn’t stop the life of a parent.” For many families, the diagnosis may create a “new normal,” but it does not have to limit their ability to live a rich and fulfilling life.

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