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A Parent's Guide - Frequently Asked Questions
What is Expanded Newborn Screening? Every baby born in the United States receives a newborn screening test. Each state screens for a different number of inherited disorders. The UCHSC Expanded Newborn Screening Program allows parents to have their babies screened for over 20 disorders -- the number of disorders recommended by American College of Medical Genetics (ACMG) and the March of Dimes. FAQ Index View Next FAQ >> What does Expanded Newborn Screening test for? Expanded Newborn Screening detects certain metabolic disorders (disorders of body chemistry). These disorders affect the body’s ability to break down proteins or fats. << View Prior FAQ FAQ Index View Next FAQ >> Why is Expanded Newborn Screening important? Early diagnosis and treatment of these metabolic disorders can help prevent serious medical problems like mental retardation, physical disability, and even death. << View Prior FAQ FAQ Index View Next FAQ >> How much does the test cost? $25.00 cash or check (payable to UCHSC Biochemical Genetics) must be sent with the specimen. The cost of this test may not be covered by health insurance. << View Prior FAQ FAQ Index View Next FAQ >> Does my state already provide comparable screening? Each state has a different mandatory newborn screening program. Most - but not all - states in the U.S.A. now provide screening comparable to that offered by the UCHSC Expanded Newborn Screening Program, as recommended by the American College of Medical Genetics (ACMG) and the March of Dimes. Colorado residents please click here. For detailed information about state-mandated screening across the United States please click here. << View Prior FAQ FAQ Index View Next FAQ >> How is the test done? The screening is done by collecting a few drops of blood from your baby’s heel on special filter paper. After the sample has dried for 2-4 hours, it is mailed to the laboratory for analysis. << View Prior FAQ FAQ Index View Next FAQ >> When is the best time to have my baby tested? It is best to have your baby tested at 24-48 hours of life. However, if your baby did not get Expanded Newborn Screening in the hospital, your pediatrician can perform the test at an office visit. In this case, it is best that your pediatrician perform the test within the first week of life, since the test is most sensitive at that time. We do not recommend this test for infants older than two months. << View Prior FAQ FAQ Index View Next FAQ >> Does Expanded Newborn Screening replace my state's newborn screening? No. UCHSC Expanded Newborn Screening does not test for all of the disorders covered by the state screen. It is important to have your baby screened by the state program. In Colorado, this includes two tests - one done shortly after birth and a second test done around one to two weeks of life. As of July 1, 2006, the Colorado state screening programnow includes "expanded newborn screening," increasing the number of metabolic disorders detected by the state newborn screening program from seven metabolic conditions to a total of 28 metabolic conditions. The Colorado state newborn screening program now uses the same methodology as the UCHSC Expanded Newborn Screening program and the tests are comparable. << View Prior FAQ FAQ Index View Next FAQ >> But my baby looks healthy… Many babies with metabolic disorders are healthy at birth. It may even take several months before a baby with one of these disorders gets sick. It is important to begin treatment before the baby gets sick to prevent permanent disability or death. << View Prior FAQ FAQ Index View Next FAQ >> But no one in my family has ever had a metabolic disorder… Many children with a metabolic disorder come from families with no history of the condition. Even if you have older children that are healthy, it is still a good idea to have your baby tested by Expanded Newborn Screening. << View Prior FAQ FAQ Index View Next FAQ >> What are the chances that my child will have one of these disorders? Metabolic disorders are very rare. Of the nearly 70,000 children born in Colorado each year, fewer than 20 will have one of the disorders detected by Expanded Newborn Screening. If your child is one of the few with one of these disorders, early treatment is necessary to help prevent serious medical harm. << View Prior FAQ FAQ Index View Next FAQ >> How will I learn the results of the test? The results will be reported by fax to your pediatrician. Please make sure to include the name, fax number, and telephone number of your pediatrician on the screening card. << View Prior FAQ FAQ Index View Next FAQ >> What does it mean if my baby is retested? If the results of your baby’s test indicate a possible problem, we will inform your pediatrician right away. We may ask for a “retest” or suggest additional testing. A request for a retest does not necessarily mean that your child has a disorder. It only indicates the need for further evaluation. << View Prior FAQ FAQ Index View Next FAQ >> Can these disorders be cured? No. Just as eye color or height cannot be changed, disorders of body chemistry cannot be cured. These disorders are caused by “mistakes” in the genes that cannot be corrected. However, the serious effects of many of these disorders can be prevented or lessened if a particular diet or medication is started early. << View Prior FAQ FAQ Index How can I get Expanded Newborn Screening for my baby? Click here for instructions on how to get the test. |
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