Items in AFP with MESH term: Neonatal Screening
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.
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.
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.
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.
ABSTRACT: When monitoring growth and development in the premature infant, physicians should make adjustments for the estimated due date. With minor exceptions, administration of immunizations is based on the chronologic age. Administration of hepatitis B vaccine should be delayed until the infant weighs 2,000 g (4 lb, 5 oz). Administration of influenza vaccine should be considered in infants with chronic medical problems, and the pneumococcal vaccine may be beneficial at age two in children with chronic problems, especially pulmonary disease. Premature infants should also be monitored to assure appropriate nutrition. Breast-fed infants should probably receive vitamin supplements during the first year. Supplemental iron should be initiated at two weeks to two months after birth and continued for 12 to 15 months. Office care includes screening for problems that occur more frequently in premature infants, especially vision and hearing problems. Because many of these infants require care from multiple medical disciplines, coordination of care is another important role for the family physician. The goals of this care are to promote normal growth and development and minimize morbidity and mortality.
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
Evaluation of Newborns with Preauricular Skin Lesions - FPIN's Clinical Inquiries
Universal Newborn Hearing Screening and Beyond - Editorials
Newborn Hearing Screening: Recommendations and Rationale - U.S. Preventive Services Task Force