Current status of neonatal screening for congenital adrenal hyperplasia.
Greater than 7.5 million newborns have been screened for 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) worldwide. As a result of such screening efforts, neonatal screening for CAH has proven to be highly reliable and has benefited countless numbers of affected newborns with classic 21-hydroxylase deficiency by contributing to the early diagnosis of the disorder. The screening process, however, is less reliable among low-birth-weight or preterm infants, and recent studies show that newly established normative reference levels based on birth weight or gestational age may minimize false-positive rates and improve the efficacy of newborn screening for CAH, particularly in low-birth-weight newborns.
Pang
S
S
Department of Pediatrics, University of Illinois, Chicago 60612, USA.
Shook
M K
MK
D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology / Q000378:metabolism / Q000517:prevention & control*; D015982:Bias; D006801:Humans; D015994:Incidence; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D007234:Infant, Premature; D015997:Neonatal Screening / Q000379:methods*; D012016:Reference Values; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity