title: Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.
abstract: There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. This retrospective study evaluated laboratory practices, along with biochemical and medical characteristics of congenital adrenal hyperplasia (CAH) cases (1) detected on the first newborn screen in one-screen compared to two-screen states, and (2) detected on the first versus the second screen in the two-screen states, to determine the effectiveness of a second screen. A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. Demographic data and diagnostic information on each reported case were collected and analyzed. Additionally, laboratory data, including screening methodologies and algorithms, were evaluated. The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on the first screen and 5 (5%) identified on the targeted second screen. The two-screen states reported 275 cases of CAH out of 2,629,627 (1 in 9500) newborns screened: 165 (60%) identified on the first screen and 99 (36%) identified on the second screen. Using a multivariate model, the only significant predictor of whether a case was identified on the first or the second screen in the two-screen states was the type of CAH. Compared with classical salt-wasting CAH, classical simple virilizing and non-classical CAH cases were less likely to be detected on the first versus the second screen. The routine second newborn screen is important for identifying children with CAH, particularly simple virilizing and non-classical forms, which might otherwise not be captured through a single screen.
authors: Wisconsin State Laboratory of Hygiene, University of Wisconsin, Madison, WI, USA. Electronic address: heldpk@slh.wisc.edu.
authors: Patrice K
authors: PK
authors: Held
authors: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors: Stuart K
authors: SK
authors: Shapira
authors: National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.
authors: Cynthia F
authors: CF
authors: Hinton
authors: Newborn Screening and Genetics Program, Association of Public Health Laboratories, Silver Spring, MD, USA.
authors: Elizabeth
authors: E
authors: Jones
authors: Division of Laboratory Sciences, Centers for Disease Control and Prevention (retired), Atlanta, GA, USA.
authors: W Harry
authors: WH
authors: Hannon
authors: Newborn Screening and Genetics Program, Association of Public Health Laboratories, Silver Spring, MD, USA.
authors: Jelili
authors: J
authors: Ojodu
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000453:epidemiology*; D000465:Algorithms; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D012189:Retrospective Studies; D014481:United States / Q000453:epidemiology
keywords: 17-Hydroxyprogesterone; Congenital adrenal hyperplasia; Genetic testing; Newborn screening; Routine second screen