Newborn Metabolic Screening Program
Almost every baby in the United States undergoes a quick heel prick blood test 36 to 48 hours after birth to screen for rare metabolic disorders. Testing this soon after birth helps us identify issues early. In Pennsylvania, New Jersey and Delaware, some babies may be referred to the Newborn Metabolic Screening Program at Children's Hospital of Philadelphia.
Established in 2002, our program is a regional referral center providing diagnostic and management services to more than 200 babies each year. Here, newborns receive additional testing and follow-up examinations by a coordinated team of experts who will confirm — or rule out — specific metabolic disorders.
In some cases, we coordinate care with the Gene Therapy for Inherited Metabolic Disorders Program, which supports children with inborn errors of metabolism.
How we serve you
By diagnosing and treating your child soon after birth, we reduce their risk of developing many complications due to their disorder. Children with inborn errors of metabolism will need diligent medical care and supportive services throughout their lives. We can help coordinate care.
Conditions we screen for
Our program identifies newborns who have rare metabolic conditions that can cause developmental delays, serious illness or life-threatening medical problems.
Why choose us for newborn metabolic screening
We are a regional referral center for babies who receive abnormal metabolic screening results. Our program acts as a gateway to services, including medical care and support programs to help your child reach their fullest potential.
Meet your team
Our staff includes experienced metabolic physicians, genetic counselors, pediatric nurses, social workers, dietitians and others.
Our research
We have a robust research program and actively participate in several clinical trials and registries for rare disorders. Our goal is early diagnosis, supportive treatment, and addressing any unmet patient and family needs.
Why we screen for metabolic disorders
There are no mandatory newborn screenings on a national level. Instead, each state determines if newborn screenings must be performed and for which diseases.
What to expect
If your baby receives abnormal results from their newborn metabolic screenings, your family may be referred to our program to confirm your child’s diagnosis, discuss treatment options and provide ongoing care.
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