Items in AFP with MESH term: Neonatal Screening

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Congenital Toxoplasmosis - Article

ABSTRACT: Approximately 85 percent of women of childbearing age in the United States are susceptible to acute infection with the protozoan parasite Toxoplasma gondii. Transmission of T. gondii to the fetus can result in serious health problems, including mental retardation, seizures, blindness, and death. Some health problems may not become apparent until the second or third decade of life. An estimated 400 to 4,000 cases of congenital toxoplasmosis occur in the United States each year. Serologic tests are used to diagnose acute T. gondii infection in pregnant women. Because false-positive tests occur frequently, serologic diagnosis must be confirmed at a Toxoplasma reference laboratory before treatment with potentially toxic drugs is considered. In many instances, congenital toxoplasmosis can be prevented by educating pregnant women and other women of childbearing age about not ingesting raw or undercooked meat, using measures to avoid cross-contamination of other foods with raw or undercooked meat, and protecting themselves against exposure to cat litter or contaminated soil.


Universal Newborn Hearing Screening - Article

ABSTRACT: Congenital hearing loss is estimated to affect one in every 1,000 newborns. Causes of hearing loss can be conductive, sensorineural, mixed, or central. Known risk factors for congenital hearing loss include cytomegalovirus infection and premature birth necessitating a stay in the neonatal intensive care unit. However, up to 42 percent of profoundly hearing-impaired children will be missed using only risk-based screening. Universal newborn hearing screening is a way to identify hearing-impaired newborns with or without risk factors. Newborns with positive screening tests should be referred for definitive testing and intervention services. Whether early intervention in hearing-impaired children identified with universal screening improves language and communication skills has not been established by good-quality studies. However, universal screening has been endorsed by most national children's health organizations because of the ease of administering the screening tests and the ability to identify children who may need early intervention.


Screening for Sickle Cell Disease in Newborns: Recommendation Statement - U.S. Preventive Services Task Force


Screening for Sickle Cell Disease in Newborns - Putting Prevention into Practice


Inborn Errors of Metabolism in Infancy and Early Childhood: An Update - Article

ABSTRACT: Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients.


Newborn Hearing Screening: Recommendations and Rationale - U.S. Preventive Services Task Force


The New U.S. Preventive Services Task Force - Editorials


Newborn Screening for Cystic Fibrosis: Recommendations from the Centers for Disease Control and Prevention - Editorials


Screening for Developmental Dysplasia of the Hip: Recommendation Statement - U.S. Preventive Services Task Force


Expanded Newborn Screening: Information and Resources for the Family Physician - Article

ABSTRACT: Family physicians treat an increasing number of children with metabolic disorders identified through newborn screening, and they are often the first line of defense in responding to an abnormal screening result. How the family physician chooses to interpret information from the screening and what he or she chooses to tell the family affects the parent-child relationship, as well as the infant's medical and developmental outcomes. Family physicians must, therefore, be familiar with the current state of expanded newborn screening to effectively communicate results and formulate interventions. They also must recognize signs of metabolic disorders that may not be detected by newborn screening or that may not be a part of newborn screening in their state. For every infant identified with a metabolic disorder, 12 to 60 additional infants will receive a false-positive screening result. One recommendation for communicating results to parents is to explain what the initial and follow-up findings mean, even if the diagnosis is not confirmed. For infants with true-positive results, long-term follow-up involves regular medical examinations, communication with a metabolic treatment center, and developmental and neuropsychological testing to detect possible associated disorders in time for early intervention. This article provides a description of metabolic disorders included in expanded newborn screening programs; a list of disorders screened for in each state; and resources for obtaining ACTion sheets (guidelines for responding to newborn screening results), fact sheets, and emergency and acute illness protocols.


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