Update: newborn screening for endocrinopathies.
Congenital hypothyroidism and congenital adrenal hyperplasia are included in many newborn screening (NBS) panels worldwide and in all state-sponsored programs in the United States. Both conditions meet the fundamental prerequisites for NBS: high incidence in the population; biomarkers in the dried blood specimen that are easily detected; and, effective therapies to lessen, if not prevent, the sequelae of late or no treatment. In this review, the history of NBS is discussed for these 2 conditions. The technologies and protocols used in their detection, and related subjects such as genetics, and treatment and outcomes, are also discussed.
Pass
Kenneth A
KA
Wadsworth Center, NYS Department of Health, Albany, NY 12201-2002, USA. kpass@wadsworth.org
Neto
Eurico Carmago
EC
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000628:therapy; D003409:Congenital Hypothyroidism / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005189:False Positive Reactions; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods* / Q000639:trends*; D016896:Treatment Outcome