Newborn Screening Program

Guidelines: A Guide for Health Professionals

The goal of newborn screening is early identification of children at increased risk for selected metabolic or genetic diseases so that medical treatment can be promptly initiated to avert metabolic crises and prevent irreversible neurological and developmental sequelae. Early identification of these conditions is crucial, as timely intervention can lead to a significant reduction of morbidity, mortality, and associated disabilities in affected infants. Today every state in the nation provides newborn screening for phenylketonuria (PKU) and congenital hypothyroidism. These two disorders set the scope for the classical benefits newborn screening can achieve, whereby early identification and treatment change the potential course of the infant's life from dependent mental retardation to near fullfunctioning normalcy. In addition to these two disorders, many other disorders are amenable to screening using the dried blood specimen (now known as the Guthrie spot) collected at least twenty-four hours after birth. Programs across the nation have selected those conditions best suited for their populations based on pilot studies, availability of funds, the abilities and limitations of screening technology, and the availability of treatment protocols.

• A Guide for Health Professionals (PDF -- 736K)
• Appendices for the Guide (PDF -- 3.3M)

The complete guideline is available as a Portable Document Format (help for PDF) file.

Requests for these guidelines in an alternate format can be made by contacting Newborn Screening.

Other Available Guidelines

• Krabbe Disease
• Sickle Cell Disease