lunes, 11 de octubre de 2010

Newborn screening - Genetics Home Reference


Newborn screening
A test that uses a few drops of blood can detect medical problems early in a baby's life.


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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.

•Description of disorders detected through newborn screening (Genetics Home Reference)
Search Results - Genetics Home Reference

•Newborn screening resources (U.S. National Library of Medicine)
Newborn Screening: MedlinePlus

•Frequently Asked Questions about Newborn Bloodspot Screening (National Newborn Screening & Genetics Resource Center)
Parents Page - NNSGRC

•Newborn Screening Saves Lives Act (Genetic Alliance)
Newborn Screening Saves Lives Act | Genetic Alliance

•States Expand Newborn Screening for Life-Threatening Disorders (March of Dimes)
States Expand Newborn Screening for Life-Threatening Disorders - March of Dimes

•Current screening by U.S. state (National Newborn Screening & Genetics Resource Center)
Resources - NNSGRC

•Save Babies Through Screening Foundation
A Resource in Newborn Screening

•Newborn Screening: Past, Present, and Future (Nemours Foundation)
Newborn Screening Tests


•Newborn Screening Tests—brochures available in several languages (New England Regional Genetics Group)
NERGG - New England Newborn Screening Brochure

•Has your baby's hearing been screened? (National Institute of Deafness and Other Communication Disorders)
Has Your Baby's Hearing Been Screened?

•The Advisory Committee on Heritable Disorders in Newborns and Children (HRSA)


•Newborn Genetic Screening (Genetic Science Learning Center, University of Utah)
Newborn Genetic Screening

•The HRSA report on newborn screening (Maternal and Child Health Bureau, HRSA)


•Newborn Screening Coding and Terminology Guide (U.S. National Library of Medicine)

Newborn Screening Coding and Terminology Guide

full-text:
Newborn screening - Genetics Home Reference

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