RESUMEN
OBJECTIVE: To examine the associations between the first-tier-screening laboratory methods and criteria and the birth prevalence of congenital adrenal hyperplasia (CAH), phenylketonuria (PKU), and the sickle hemoglobinopathies occurring in the United States between 1991 and 2000. STUDY DESIGN: By using validated data from the National Newborn Screening and Genetics Resource Center, we fit Poisson regression models with laboratory methods and criteria used in every year for each state for each disorder. We also examined whether there was an overall change in birth prevalence over the decade and whether there was an effect resulting from obligatory second screenings. RESULTS: There were no associations among any of the factors and the birth prevalence of PKU in this decade. Use of the enzyme-linked immunosorbent assay was more likely than any other laboratory method to identify cases of CAH (OR 1.16; 95% CI 1.04-1.30), but no other factors were associated with this disorder. None of the factors examined were associated with the birth prevalence rates of any of the sickle hemoglobinopathies. CONCLUSION: There were no substantial changes in the birth prevalence rates of PKU, CAH, or the sickle hemoglobinopathies over the study period despite rapid changes in technology.
Asunto(s)
Hiperplasia Suprarrenal Congénita/epidemiología , Anemia de Células Falciformes/epidemiología , Fenilcetonurias/epidemiología , Cromatografía Líquida de Alta Presión , Ensayo de Inmunoadsorción Enzimática , Fluoroinmunoensayo , Humanos , Recién Nacido , Tamizaje Neonatal/métodos , Prevalencia , Espectrometría de Masas en Tándem , Estados UnidosRESUMEN
Newborn screening (NBS) includes biochemical testing for certain medical conditions that can cause devastating consequences if left undetected and untreated. Mandated screening requires a complex support system to ensure its effectiveness. There are 51 separate NBS programs in the United States, all with different administrative structures and screening panels. Only 8 states mandate screening for cystic fibrosis (CF) and 2 of these are just beginning. Optional NBS for CF reaches significant numbers of newborns in 3 other states but the CF screens are only projected to reach about 20% of the newborn population in 2005. Forthcoming recommendations for NBS screening from the federal Advisory Committee on Heritable Diseases and Genetic Disorders in Newborns and Children (ACHDGDNC) will impact decisions about NBS panels and professional and consumer advocacy will play an important role in deciding the directions in which NBS programs move. For effective CF NBS, CF care centers will need to partner with NBS programs to ensure optimal health benefits, and programs will need to continually evaluate diagnostic and outcome data in order to refine their screening protocols.
Asunto(s)
Fibrosis Quística/diagnóstico , Exámenes Obligatorios , Tamizaje Neonatal/organización & administración , Comités Consultivos , Cuidados Posteriores/organización & administración , Protocolos Clínicos , Consenso , Diagnóstico Precoz , Gobierno Federal , Predicción , Directrices para la Planificación en Salud , Política de Salud , Humanos , Recién Nacido , Relaciones Interinstitucionales , Exámenes Obligatorios/normas , Exámenes Obligatorios/tendencias , Evaluación de Resultado en la Atención de Salud , Formulación de Políticas , Guías de Práctica Clínica como Asunto , Planes Estatales de Salud/organización & administración , Estados UnidosRESUMEN
Molecular genetic confirmatory testing with polymerase chain reaction amplification is integral to neonatal hemoglobinopathy screening programs. In this study, we demonstrate applicability of polymerase chain reaction-based testing for the common deletions in blacks responsible for hereditary persistence of fetal hemoglobin. This approach will provide rapid diagnostic clarification in newborn screening follow-up.