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What is included in a newborn screening test?

Each year, millions of babies in the U.S. are routinely screened, using a few drops of blood from the newborns heel, for certain genetic, endocrine, and metabolic disorders, and are also tested for hearing loss and critical congenital heart defects (CCHDs) prior to discharge from a hospital or birthing center.

What are the 7 conditions for a newborn screening test?

What are newborn screening tests? Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine. Congenital hypothyroidism. Galactosemia. Sickle cell disease. Maple syrup urine disease. Homocystinuria. Biotinidase deficiency. Congenital adrenal hyperplasia.

What does a positive PKU test indicate?

PKU is an inherited disease. An enzyme that would normally help break down the amino acid phenylalanine is missing. The phenylalanine or phe, then builds up in the babys body. When the phe levels get too high, the nerve and brain cells are damaged.

What does newborn screening detect?

Newborn screening checks a baby for serious but rare and mostly treatable health conditions at birth. It includes blood, hearing and heart screening. Your baby can be born with a health condition but may not show any signs of the problem at first.

What information can be obtained from mutation testing and newborn screening?

Newborn screening programs may screen for up to 50 diseases, including phenylketonuria (PKU), sickle cell disease, and hypothyroidism. About 3,000 newborns test positive each year for one of these severe disorders.

What is the CDC standardization program?

CDC Clinical Standardization Programs (CSPs) assess the analytical performance of new and established laboratory tests in patient care, public health, and clinical research globally. We do this through continuous certification programs and special, focused laboratory studies.

What are the results of the newborn screening?

There are four possible results in newborn blood spot screening: Within Normal Limits/Negative, Trait, Borderline, and Positive/Abnormal. A Within Normal Limits or Negative result means that the screen was normal for the disorder and no additional follow-up is required.

What is an abnormal newborn screening result?

An abnormal or out of range test result indicates that the baby may be at higher risk of having one or more of the disorders included on the newborn screening panel. This does not mean that the baby definitely has a disorder.

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