Newborn screening for congenital adrenal hyperplasia in New York State

Abstract

From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood spots was measured using the AutoDELFIA Neonatal 17-OHP kit (Perkin Elmer, Turku, Finland). During the 8 year period of this study 2476 babies were referred, 105 babies were diagnosed with CAH (90 with the salt-wasting (SW), 8 with simple virilizing (SV), 5 with non-classical CAH, and 2 with another enzyme deficiency) and, 14 with possible CAH. Three false negative cases with SV-CAH were reported to the program. Of the total 108 known cases, 74 (69%) infants were detected by newborn screening in the absence of clinical information, or, known family history. The incidence of CAH in NYS is 1 in 18,170 with a ratio of SW to SV of 8.2:1. The incidence of CAH is lower in Black infants than in White, Hispanic and Asian infants. Despite a lower mean birth weight, female infants have a lower mean 17-OHP value than male infants and are under-represented in the referred category. As per other NBS programs the false positive rate is exacerbated by prematurity/low birth weight and by over-early specimen collection.

Newborn Screening for Selected Disorders in Nepal: A Pilot Study

“…However, despite a lower birth weight of female infants, the OHP was lower compared to males. Similar results have been obtained for two million babies screened for CAH, where the female babies were found to have significantly lower birth weights and lower OHP values; however, there was no significant difference between the numbers of males and females who had a confirmed diagnosis of CAH [36]. Higher values of OHP compared to the Swiss values was most likely due to an earlier collection of heel-prick samples: 55% collections were done during the first day of life.…”

Low prevalence of organic pathology in a predominantly black population with premature adrenarche: need to stratify definitions and screening protocols

“…Our study also examines racial differences in PA. No black subjects in our study with PA were found to have adrenal, gonadal or hypothalamic/pituitary pathology. Newborn screening data for CAH shows an incidence of 1:24,840 in black newborns screened from 2007 to 2014, which is lower than in NHW and Hispanic white populations [27]. Our study shows a low prevalence of NCCAH in black population with PA as well.…”

Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone cut-off values based on birth weight

“…Melissa et al, found that most of the CAH diagnosed female newborns presented with ambiguous genitalia. 10 Simple virilizing disease in males can be diagnosed only in later childhood due to rapid growth and accelerated skeletal maturation, which increases their mortality. 11 The concentration of 17-OHP varies according to the gestational age at birth and birth weight.…”