Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

Abstract

Objective: Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. Subjects and methods: Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child's age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations. Results: The NSP-SES/ SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone. Conclusions: The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset. Arq Bras Endocrinol Metab. 2014;58(7):765-71

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants

“…It was also very close to the incidence of 1:14,972 reported for the only adjacent Brazilian state, in which a similar, predominantly Caucasian population is found [19]. In contrast, other Brazilian states had a lower incidence of CAH [16, 17].…”

“…Interestingly, we observed that even if above the diagnostic cut-off point for the birth weight tier, 17-OHP values of false positive infants were significantly lower than those of CAH cases in both the initial screening and retest. Other studies have reported similar findings [10, 19], which might be explained by a more severe clinical status, since many of these false positive infants required intensive care [12]. …”

“…In the past two decades, a decrease in false positive rates has been noted [10, 11, 23, 29, 30], possibly as a result of both improved 17-OHP detection methods and adjustment of diagnostic cut-off points to birth weight [7, 10]. Adjustment of diagnostic levels of 17-OHP according to birth weight tiers [7, 9, 10, 19] has been proposed as a useful strategy to minimize false positive. However, it is also important to recognize other possible factors associated with an increased 17-OHP level in newborns.…”

“…Even though screening for CAH has been available through the public health care system for many years in some Brazilian states [10, 16, 18, 19], only in May 2014 was it introduced in the southernmost state of Rio Grande do Sul. Therefore, the aims of the present study were to summarize the results of the first year of CAH newborn screening in this population, to determine the incidence of CAH in the state, and to estimate the rate of false positive results in the local screening program.…”

Early Diagnosis of Children with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency by Newborn Screening

“…After various pilot projects [15][16][17], general NBS for classic CAH was introduced as part of the NBS in many countries worldwide [7,[18][19][20][21][22][23][24]. However, in the beginning of newborn screening, many laboratories have used an immunologic method to measure 17-OHP.…”