Analyzing the Cost of Neonatal Screening for Congenital Adrenal Hyperplasia

Newborn screening for congenital adrenal hyperplasia (CAH) is justified by the sometimes difficult clinical diagnosis and the risks associated with missed diagnosis, particularly the life-threatening salt-wasting crisis. In Switzerland, nationwide screening for CAH by measuring 17-hydroxyprogesterone levels in dried blood spots was introduced in 1992. At the Zurich University Children’s Hospital, 50% of the population of Switzerland is screened. The aim of the study was to evaluate the efficiency of the Zurich screening program. Between January 1, 1993, and May 31, 2001, 333,221 newborns were screened for CAH. Thirty-one newborns had CAH (incidence, 1 in 10,749); 30 were detected through screening (sensitivity, 97%). A recall for suspected CAH was performed in only 60 cases, corresponding to a very low recall rate (0.0018%). In 30 recalls CAH was confirmed (positive predictive value, 50%; specificity, 99.99%). Fifteen of 31 patients profited from screening, as CAH had not been recognized clinically. The timely availability of screening results made therapy possible within the first week of life in most cases and helped in preventing salt-wasting crisis in all patients. With a sensitivity of 97%, a specificity of 99.99%, and a positive predictive value of 50%, the Zurich neonatal screening program for CAH can be considered highly reliable.

Download Full-text

Neonatal screening for congenital adrenal hyperplasia

Nature Reviews Endocrinology ◽

10.1038/nrendo.2009.148 ◽

2009 ◽

Vol 5 (9) ◽

pp. 490-498 ◽

Cited By ~ 116

Author(s):

Perrin C. White

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Neonatal Screening ◽

Adrenal Hyperplasia

Download Full-text

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

Arquivos Brasileiros de Endocrinologia & Metabologia ◽

10.1590/0004-2730000003310 ◽

2014 ◽

Vol 58 (7) ◽

pp. 765-771 ◽

Cited By ~ 12

Author(s):

Marilza Leal Nascimento ◽

Anísia Nhelety Baptista Cristiano ◽

Tatiane de Campos ◽

Masanao Ohira ◽

Edson Cechinel ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Neonatal Screening ◽

Screening Program ◽

Clinical Manifestations ◽

The State ◽

Adrenal Hyperplasia ◽

Santa Catarina ◽

Salt Wasting ◽

Neonatal Screening Program ◽

Treatment Onset

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.

Download Full-text