martes, 30 de junio de 2015

Newborn Screening - Genetics Home Reference

Newborn Screening - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions



Newborn Screening

Newborn screening is the practice of testing all babies for certain disorders and conditions that can hinder their normal development. Babies with these conditions appear healthy at birth but can develop serious medical problems later in infancy or childhood. Early detection and treatment can help prevent intellectual and physical disabilities and life-threatening illnesses.
Newborn screening usually begins with a blood test 24 to 48 hours after the baby is born. The test is performed by pricking the baby's heel to collect a few drops of blood. The blood is placed on a special piece of paper and sent to a laboratory for analysis. Parents can ask for a copy of the test results, which are sent to the baby's doctor or clinic.
Sometimes a repeat blood test is required, particularly if the first test was done before the baby was 24 hours old. If the results of the test are abnormal, additional testing is required to confirm the result. Parents are notified within a few days of the first test if retesting is necessary. The blood test should be repeated as soon as possible.
Newborn screening varies from state to state. All states must screen for at least 21 disorders by law, and some states test for 30 or more. Parents can ask their doctor about expanded (supplemental) screening if they live in an area that screens for a limited number of disorders.
To encourage uniform and comprehensive newborn screening throughout the United States, the Health Resources and Services Administration (HRSA) issued a report that recommends screening for 29 specific conditions. The recommendations include a test for hearing loss in newborns. The hearing test uses a soft earphone or other instrument that is placed in the baby's ear.
Please use the links below to learn more about newborn screening.

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