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Infant screening tests; Neonatal screening tests; The PKU test
Newborn screening tests look for serious developmental, genetic, and metabolic disorders so that important action can be taken during the critical time before symptoms develop. Most of these illnesses are very rare, but are treatable if caught early.
In the United States, individual states regulate newborn screening, so the diseases screened for vary considerably from state to state. Most states require three to eight tests, but organizations such as the March of Dimes and the American College of Medical Genetics suggest more than two dozen additional tests.
In addition to the newborn screening blood test, a hearing screen is recommended for all newborns.
Blood tests: A health care professional will prick the baby' s heel to obtain a few drops of blood. The blood is sent to a lab for analysis.
Hearing test: A health care provider will place a tiny earpiece or microphone in the infant' s ear or stick electrodes on the baby' s head while the baby is quiet or asleep.
There is no preparation necessary for newborn screening tests. The tests are performed when the baby is between 24 hours and 7 days old, typically before the baby goes home from the hospital.
The baby will most likely cry when his or her heel is pricked to obtain the small blood sample. Studies have shown that babies whose moms hold them skin-to-skin or breastfeed them during the procedure show less distress. Swaddling the baby, or offering a pacifier dipped in sugar water, also appear to help reduce pain.
The hearing test should not cause the baby to feel pain, cry, or respond.
Screening tests do not diagnose illnesses. They identify which babies need additional testing to confirm or rule out illnesses.
If follow-up testing confirms that the child has a disease, appropriate treatment can be started right away, before symptoms appear.
Screening tests are used to detect a number of disorders, including:
See also: Hearing loss - infants
American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system--executive summary. Pediatrics. 2006 May;117(5 Pt 2):S296-307.
Morrow C et al. Reducing Neonatal Pain during Routine Heel Lance Procedures. MCN, The American Journal of Maternal/Child Nursing, November/December 2010; (35)6:346 – 354.
Smith L. Updated AAP Guidelines on Newborn Screening and Therapy for Congenital Hypothyroidism. Am Fam Physician. 2007; 76(3).
Levy PA. An overview of newborn screening. J Dev Behav Pediatr. 2010 Sep;31(7):622-31.
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