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Sep. 29, 2020

TOPIC: Featured News, Medical, Patients & Members, Newborn Screening

Newborn Screening: The HCP Perspective on the Importance of Confirmatory Testing and Collaboration

Posted by Valaree DonFrancesco


By José Abdenur, MD and Rebekah Bressi, CGC

”Newborn screening is one of the most successful public health initiatives that allows physicians to prevent the disability or death of thousands of children every year. Providing a timely diagnosis and treatment for families is among the most fulfilling acts for a medical provider. Following these patients over the years is a challenging but beautiful journey that we are privileged to share with the families,” says José Abdenur, MD, Medical Director, Pediatric Medical Disorders at CHOC Children’s Hospital in California.

Babies are screened at birth in the hospital by taking a small blood sample from a heel stick that is then analyzed to determine whether they have any of the conditions screened for in that particular state. Although newborns in all states are at risk for the same diseases, those diseases that a baby is screened for may change depending on where they are born. There are 35 “core conditions” that the Department of Health and Human Services (HHS) has deemed essential to be screened for and 26 “secondary conditions” that relate to a core disorder.  Many states do not screen for all the core and secondary conditions. If you are interested in what your state screens for, visit Baby’s First Test for more information. If there is a specific condition you are interested in and your state does not screen for it, you, alongside other community members, scientists, and medical providers, can advocate for it to be considered by your state newborn screening program. When families, communities, and providers work together with NORD’s Rare Action Network, efforts can be amplified.

If the result of the initial newborn screening sample is outside the expected range, the families and doctors are contacted by the state to confirm if the baby indeed has a disease. Depending on the result and urgency of the disorder that is detected by the initial test, the additional (confirmatory) testing may be collected through the birth hospital, pediatrician’s office, local laboratory or emergency room. Most times, multiple types of samples are needed, like blood, urine, and saliva to complete the testing and provide definitive answers.

This process can be stressful for families. They are often faced with overwhelming information and uncertainty, all while trying to care for a newborn. Providing appropriate information, resources and swift answers are crucial to a successful collaboration.

Most families receive negative (normal) results from the confirmatory testing. The few that receive positive results need assistance from an interdisciplinary team of physicians, nurse practitioners, genetic counselors, dieticians, nurses, case managers, social workers and interpreters. These individuals work with each family closely to develop an individualized care plan specific to the patient.

It is from the efforts of the state NBS programs, metabolic centers across the country and each community that over 3.7 million babies are screened in the US every year. Through this process we find that “rare diseases” are indeed not so rare, as around 1 in 700 newborns are found to be affected by one of them.

We at CHOC Children’s are committed to giving these children and their families the best care.  We continue to honor our commitment by putting efforts into the research and betterment of newborn screening with three main goals: to educate patients, families, and the public about rare diseases and newborns screening, communicate the importance of newborn screening in public health policy as a preventative measure for fighting premature illness and death, and  identify and treat children before they are symptomatic. Every day our efforts bring us closer to our goals, and with the support we receive in the community, we will reach them.


José Abdenur, MD, is Chief of the Division of Metabolic Disorders at CHOC Children’s. He is also Medical Director of the Metabolic Laboratory, one of only a few such laboratories in the United States. He is board certified in clinical biochemical genetics.

Rebekah Bressi is a Certified Genetic Counselor working at the Division of Metabolic Disorders at CHOC Children’s. She has broad experience in counseling families with rare diseases and coordinating the confirmatory testing and follow-up of families with positive NBS results.