Newborn screening tests look for developmental, genetic, and metabolic disorders in the newborn baby. This allows steps to be taken before symptoms develop. Most of these illnesses are very rare, but can be treated if caught early. Show
The types of newborn screening tests that are done vary from state to state. By April 2011, all states reported screening for at least 26 disorders on an expanded and standardized uniform panel. The most thorough screening panel checks for about 40 disorders. However, because phenylketonuria (PKU) was the first disorder for which a screening test developed, some people still call the newborn screen "the PKU test". In addition to blood tests, screening for hearing loss and critical congenital heart disease (CCHD) is recommended for all newborns. Many states require this screening by law as well. How the Test is PerformedScreenings are done using the following methods:
How to Prepare for the TestThere is no preparation needed for newborn screening tests. The tests are most often done before leaving the hospital when the baby is between 24 hours and 7 days old. How the Test will FeelThe baby will most likely cry when the heel is pricked to get the blood sample. Studies have shown that babies whose mothers hold them skin-to-skin or breastfeed them during the procedure show less distress. Wrapping the baby tightly in a blanket, or offering a pacifier dipped in sugar water, may also help ease pain and calm the baby. The hearing test and the CCHD screen should not cause the baby to feel pain, cry, or respond. Why the Test is PerformedScreening tests do not diagnose illnesses. They show which babies need more testing to confirm or rule out illnesses. If follow-up testing confirms that the child has a disease, treatment can be started, before symptoms appear. Blood screening tests are used to detect a number of disorders. Some of these may include:
Normal ResultsNormal values for each screening test may vary depending on how the test is performed. Note: Normal value ranges may vary slightly among different laboratories. Talk to your provider about the meaning of your specific test results. What Abnormal Results MeanAn abnormal result means that the child should have additional testing to confirm or rule out the condition. RisksRisks for the newborn heel prick blood sample include:
ConsiderationsNewborn testing is critical for the baby to receive treatment. Treatment may be lifesaving. However, not all disorders that can be detected can be treated. Although hospitals do not perform all screening tests, parents can have other tests done at large medical centers. Private labs also offer newborn screening. Parents can find out about extra newborn screening tests from their provider or the hospital where the baby is born. Groups like the March of Dimes -- www.marchofdimes.org also offer screening test resources. Alternative NamesInfant screening tests; Neonatal screening tests; The PKU test ReferencesCenters for Disease Control and Prevention website. Newborn screening portal. www.cdc.gov/newbornscreening. Updated September 29, 2020. Accessed July 7, 2021. McCandless SE, Kripps KA. Genetics, inborn errors of metabolism, and newborn screening. In: Fanaroff AA, Fanaroff JM, eds. Klaus and Fanaroff's Care of the High-Risk Neonate. 7th ed. St Louis, MO: Elsevier; 2020:chap 6. Sahai I, Levy HL. Newborn screening. In: Gleason CA, Juul SE, eds. Avery's Diseases of the Newborn. 10th ed. Philadelphia, PA: Elsevier; 2018:chap 27. Review Date 5/24/2021Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. What are the most common newborn screening disorders?Nearly all babies will have a simple blood test to check for disorders that are not apparent immediately after delivery.. Phenylketonuria (PKU). ... . Congenital hypothyroidism. ... . Galactosemia. ... . Sickle cell disease. ... . Maple syrup urine disease. ... . Homocystinuria.. What should newborns be screened for?When your baby is 1 to 2 days old, he has some special tests called newborn screening. Newborn screening checks a baby for serious but rare and mostly treatable health conditions at birth. It includes blood, hearing and heart screening.
What are the 5 tests given to a newborn?The Apgar test is the first screening most newborns are given; the scores — rated on a scale of 0 to 10, and taken one minute and again five minutes after birth — reflect baby's general condition. They're based on observations made in five assessment categories: appearance, pulse, reflexes, muscle tone and breathing.
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What is a newborn screening test for
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