Effect of newborn screening for congenital adrenal hyperplasia.
OBJECTIVE
To compare the incidence of diagnosis and morbidity in newborns who were screened with newborns who were not screened for congenital adrenal hyperplasia (CAH).


METHODS
A retrospective cohort study.


METHODS
Arkansas, Oklahoma, and Texas.


METHODS
An unscreened population in Arkansas and Oklahoma (n = 400118) was compared with a screened population in Texas (n = 1613378) during a 5-year period. Simultaneous data were collected on the incidence of diagnosis and associated morbidity in patients with CAH.


METHODS
Diagnosis of CAH, age (in days) at diagnosis, and frequency and length of initial hospitalization.


RESULTS
The incidence of diagnosis of classic CAH per 100000 newborns in the unscreened cohort (5.75) and in the screened cohort (6.26) was similar (relative risk, 0.92; 95% confidence interval, 0.58-1.44). The unscreened group had 0.73 fewer male newborns with salt-wasting CAH diagnosed per 100000 newborns (relative risk, 0.73; 95% confidence interval, 0.35-1.56). The median age at diagnosis was 26 days for male newborns with salt-wasting CAH in the unscreened cohort vs 12 days in the screened cohort (z = 2.49; P = .01). Male newborns with simple-virilizing CAH and newborns with nonclassic CAH were detected only in the screened cohort.


CONCLUSIONS
There was not a statistically significant (P = .73) increase in the diagnosis of salt-wasting CAH in the screened cohort. Male newborns benefited as a result of significantly (P = .01) earlier diagnosis, reduced morbidity, and shorter lengths of hospitalization. Large collaborative studies or meta-analyses are needed to determine the life-saving benefits of screening.
Brosnan
P G
PG
Department of Pediatrics, School of Medicine, The University of Texas-Houston Health Science Center, 77030, USA. pbrosnan@ped1.med.uth.tmc.edu
Brosnan
C A
CA
Kemp
S F
SF
Domek
D B
DB
Jelley
D H
DH
Blackett
P R
PR
Riley
W J
WJ
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000453:epidemiology; D001131:Arkansas / Q000453:epidemiology; D016009:Chi-Square Distribution; D015331:Cohort Studies; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D009825:Oklahoma / Q000453:epidemiology; D016012:Poisson Distribution; D012189:Retrospective Studies; D018709:Statistics, Nonparametric; D013781:Texas / Q000453:epidemiology
D019326:17-alpha-Hydroxyprogesterone