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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 Center’s 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.

Opponents of expanded newborn screening feel that the detectable conditions are too rare to warrant testing every newborn. They also point out that the equipment necessary for testing is very expensive to purchase and the experts needed to effectively run the tests, analyze the results, and perform follow-up on positive tests would bankrupt most state health budgets.

Pediatricians normally do not perform screenings other than those required by the state unless the parents request them or the infant's symptoms or family history warrant expanded testing. Parents can request ENBS if they feel they are at a higher risk for a disorder. If you answer yes to any of the following questions, you may want to discuss ENBS with your doctor:

• Do you have a positive family history of an inherited disorder?
• Have you previously given birth to a child who’s affected by a disorder?
• Did an infant in your family die because of a suspected metabolic disorder?
• Do you have another reason to believe that your child may be at risk for a certain condition?

If you would like to have your baby receive ENBS, contact one of the laboratories below to obtain a parent packet, which contains a screening kit and information for you and your physician. The screening kit should be obtained prior to delivery and taken to the hospital with you when you give birth. Simply give the kit to your doctor, and ask to have an extra blood sample drawn at the time of your baby's routine newborn screening. Your doctor will then send the sample off to a participating laboratory for testing.

Pediatrix Screening
1-866-993-2300
45+ disorders for $89

Institute of Metabolic Disease (Baylor Medical Center)
1-800-422-9567
35 disorders for $25– Not Available in New York

Mayo Medical Laboratories
1-800-533-1710
35 disorders for $57

University of Colorado
1-303-724-3826
20+ disorders for $25