title: Newborn screening: a literature review.
abstract: Newborn screening is the largest genetic testing effort for newborns in the U.S. Its purpose is to identify newborns who are at risk for metabolic, endocrine, or hematologic disorders. A review of the literature was conducted to determine the benefits of newborn screening; specimen collection timing and handling; ethical considerations of screening; as well as current practices regarding consent, notification of results, and follow-up procedures. The use of tandem mass spectrometry for expanded newborn screening and postmortem diagnosis of unexplained infant death was also reviewed. This article is intended to educate health care providers in the areas of controversy that surround the U.S. newborn screening program, with the hope of encouraging further research in this mportant area of newborn care.
authors.affiliation: Baptist Hospital, Kendall Regional Medical Center, Florida, USA. allysmail@aol.com
authors.forename: Allyson
authors.initials: A
authors.lastname: Kayton
mesh_terms: D000359:Aftercare / Q000941:ethics / Q000458:organization & administration; D001344:Autopsy; D001800:Blood Specimen Collection / Q000592:standards; D018563:Disease Notification; D034462:Dissent and Disputes; D005820:Genetic Testing / Q000941:ethics / Q000458:organization & administration*; D006287:Health Planning Guidelines; D006297:Health Services Accessibility / Q000941:ethics / Q000458:organization & administration; D040361:Healthy People Programs; D006801:Humans; D007231:Infant, Newborn; D007255:Information Services; D020407:Internet; D015997:Neonatal Screening / Q000009:adverse effects / Q000941:ethics / Q000451:nursing / Q000458:organization & administration*; D033282:Parental Consent / Q000941:ethics; D017410:Practice Guidelines as Topic; D053719:Tandem Mass Spectrometry; D014342:Truth Disclosure; D014481:United States