Chapter 16: Newborn Screening

I. DEFINITION

Newborn screening is the testing of all newborns in the first few days of life for certain congenital disorders or diseases that can cause severe lifelong intellectual and physical disabilities, chronic disease, and possibly death if not detected early and treated as soon as possible. The purpose of newborn screening is to identify these conditions and provide treatment as early as possible. It involves a blood test that screens for multiple congenital conditions, a pulse oximetry test to rule out critical congenital heart disease, and a hearing test to rule out congenital deafness. This is a population-based system that is mandated in every state. The American Academy of Pediatrics (AAP) and American College of Medical Genetics and Genomics (ACMG) support offering newborn screening to all children. They recommend education and counseling about its benefits, its risks, and what to do if there is a positive result.

II. COMPONENTS OF NEWBORN SCREENING

Once thought of as just a newborn screening test, the AAP states it is now a complex system that encompasses 5 very important components:

1. Testing of all newborns. involves the following:

   1. A blood test that screens for certain metabolic or genetic conditions.

   2. A pulse oximetry test to test for a critical congenital heart defect that requires either a catheter-based intervention or heart surgery.

   3. A routine hearing test to rule out congenital deafness. Treatment needs to begin before 6 months of age so communication skills can develop.

2. Timely follow-up of abnormal screening results. Some disorders can cause severe disabilities and some are fatal if not treated early.

3. Diagnostic testing to verify results of the initial screening blood test. The initial blood test does not provide a definitive result to diagnose the infant; it only identifies newborns who need further diagnostic testing.

4. Management of the disease which usually involves a multidisciplinary approach.

5. Ongoing evaluation of the newborn screening system.

III. WHAT CONGENITAL DISORDERS OR DISEASES SHOULD BE SCREENED FOR?

1. Recommended Uniform Screening Panel (RUSP) is a standardized list of disorders recommended by the secretary of the Department of Health and Human Services and supported by the Advisory Committee on Heritable Disorders in newborns and children from which states select conditions to screen for as part of their universal newborn screening program. Most states screen for the majority of the disorders on RUSP, and some even screen for additional disorders.

2. Core and secondary conditions of RUSP

   1. Core conditions are disorders that are recommended in every US newborn screening program. There are 35 core conditions on the newborn screening panel. See Table 16–1. Criteria for conditions to be added to RUSP include:

      1. It is a clearly defined disorder.

      2. States are able to screen for the disorder.

      3. There is a diagnostic confirmatory test to detect the disorder.

      4. There is available treatment that is effective and evidence to support improved outcome in the presymptomatic or ...