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Expanded Newborn Screening

More than four million newborn babies are screened for congenital disorders in the U.S. annually and 3,000 of them are diagnosed with a disorder. But each year, more than 1,000 newborns suffer conditions that could have been identified, but were missed.

According to the Save Babies Through Newborn Screening Foundation, Inc., six babies are born everyday in the U.S. alone that have disorders detectable through newborn screening, but go undetected because the disorders aren't included in most routine newborn screening tests. For example, it is estimated that 3 to 5 percent of all cases of Sudden Infant Death Syndrome (SIDS) are actually cases of undiagnosed metabolic disorders that could be detected with a broader range of tests called expanded newborn screening (ENBS), or tandem mass spectrometry (MS/MS).

All states screen for at least two congenital conditions; however, each state has its own requirements for any additional conditions included in the test. For instance if your child was born in California in 2001, he or she would have been screened for 4 disorders; however, if he or she had instead been born in Massachusetts, he or she would have been screened for 28 disorders. Most hospitals in the United States are required to test for fewer than 10 disorders. For example, only a few states screen for cystic fibrosis, toxoplasmosis or HIV. According to the Save Babies Through Newborn Screening Foundation, Inc. less than 10 percent of babies born in the U.S. currently get comprehensive screening for all metabolic, endocrine and hematologic disorders already detectable through existing routine newborn screening programs.

Expanded newborn screening can detect more than 30 different genetic disorders that affect between one in 25,000 and 200,000 newborns with one blood sample. These rare disorders fall into three different biochemical categories: amnio acid disorders, organic acid disorders, and fatty acid oxidation disorders. MS/MS measures and identifies substances (amino acids and acylcarnitines) in a newborn's blood, which can alert doctors to an increased risk of having one of these inherited metabolic disorders and receive follow-up tests to confirm or rule out a diagnosis. To find out which disorders your state screens for, or which states offer some form of ENBS, visit the National Newborn Screening & Genetics Resource Centerís website.

Babies with many of these disorders are at risk of mental retardation, physical disabilities and even death if they are not diagnosed and treated early. Although most of the disorders detectable by the expanded newborn screening test cannot be cured, many of them can be managed through a modified diet and medication if detected early.

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