About the Newborn Metabolic Screening Program

Almost every baby in the U.S. undergoes a quick heel prick blood test 36 to 48 hours after birth to screen for a host of rare metabolic disorders. For the vast majority of babies, the results are normal and their families go on with their lives. However, if your baby’s results are abnormal, your family’s medical journey has just begun.

Babies born in Pennsylvania, New Jersey or Delaware who receive abnormal screening results can be referred to the Newborn Metabolic Screening Program at Children’s Hospital of Philadelphia (CHOP).

Established in 2002, the Newborn Metabolic Screening Program is one of the largest and most experienced services in the country. As a regional referral center, CHOP provides diagnostic and management services for more than 200 babies each year. Here, newborns receive additional testing and follow-up examinations by a multidisciplinary team of experts who will confirm — or rule out — specific metabolic disorders.

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, for which diseases, and how many diseases will be screened. Most states now screen for 30 or more disorders.

As of June 2018, babies born in Pennsylvania are screened for 34 conditions; babies in Delaware are screened for 42 conditions; and babies born in New Jersey are screened for 46 conditions. For a complete list of which diseases are screened in the region, see Newborn Metabolic Screenings for PA, DE and NJ.

The goal of these programs is to identify newborns who may appear healthy at birth, but, in fact, have rare metabolic conditions that could cause developmental delays, cognitive disabilities, serious illnesses, and life-threatening medical problems.

By diagnosing these disorders early, treatment can begin sooner and improve the child’s chances of living a happy, healthy life.

How we can help

CHOP’s Newborn Metabolic Screening Program acts as a gateway to a wealth of services that will support your family and help your child reach their maximum potential.

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.

We will:

  • Provide timely treatments for your child, including dietotherapy and medical management, to meet your child’s neurodevelopmental needs
  • Provide genetic testing and counseling so you can better understand your child’s disorder, its causes, and your family’s risk of having another child with the same disorder
  • Coordinate follow-up visits with appropriate specialists and dedicated programs (such as the Lysosomal Storage Disease Program) to address your child’s medical, developmental and psychological needs
  • Educate your child’s primary care physician about the child’s metabolic disease and work with them to coordinate ongoing treatment and monitoring

Our research

In addition to the clinical resources we can offer your family, CHOP has a robust research program.

Our research and clinical teams actively participate in several clinical trials. Though these treatments are still being investigated, they can offer new hope to some patients with rare disease. Talk to your child's doctor to determine whether a clinical trial may be available and appropriate for your child.

We have registries for rare disorders such as phenylketonuria, mucopolysaccharidosis type I, II, IV, VI, Fabry, LAL deficiency, Pompe disease, homocystinuria and urea cycle defects.

By assessing the natural history of rare metabolic conditions, we can better understand the benefits of early diagnosis and treatment, as well as uncover any unmet needs.