Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience

• Published in: Clinica chimica acta 2013-06, Vol.421, p.73-78
• Main Authors: González, Ernesto Carlos, Carvajal, Frank, Frómeta, Amarilys, Arteaga, Ana Luisa, Castells, Elisa María, Espinosa, Tania, Coto, Remigio, Pérez, Pedro Lucio, Tejeda, Yileidis, Del Río, Lesley, Segura, Mary Triny, Almenares, Pedro, Robaina, René, Fernández, José Luis
• Format: Article
• Language: English
• Subjects: 17-alpha-Hydroxyprogesterone - blood; 17-Hydroxyprogesterone; 21-Hydroxylase deficiency; Adrenal Hyperplasia, Congenital - blood; Adrenal Hyperplasia, Congenital - diagnosis; Adrenal Hyperplasia, Congenital - epidemiology; Birth Weight; Congenital adrenal hyperplasia; Cuba - epidemiology; Dried Blood Spot Testing; Early Diagnosis; Female; Gestational Age; Humans; Incidence; Infant; Infant, Newborn; Male; Neonatal Screening; Newborn screening; SUMA
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/j.cca.2013.02.020

Since 2005, a newborn screening program for congenital adrenal hyperplasia (CAH) by measuring 17-alpha-hydroxyprogesterone (17OHP) in dried blood spots was introduced in Cuba. The hormone was measured by the 17OHP Neonatal UMELISA method, in samples collected on the 5th day as average. Confirmatory test was performed to those neonates with 17OHP values above 55nmol/l. Some perinatal factors that can influence on 17OHP levels were studied. From January 2005 to December 2010, 621,303 newborns were screened and 39 CAH cases were detected. Coverage of the program reached 98%. The incidence of CAH in Cuba was 1:15,931, similar to that reported by other programs. A recall for suspected CAH was performed in 10,799 cases (1.74%). Therapy in classical CAH patients was started at the mean age of 22days. 17OHP levels were significantly higher in newborns with lower birth-weight (BW) and/or gestational age (GA). In addition, 17OHP values were affected by the gender, twin status or mode of delivery. In Cuba, the nationwide newborn screening program has allowed the early detection of CAH. The use of an optimized cut-off level for BW or GA could lead to a reduction in the percentage of recalled babies. ► We demonstrated the validity of SUMA technology for the newborn screening of CAH. ► In Cuba, the newborn screening program has allowed the early detection of CAH. ► A screening algorithm that adjusts COV for BW improves the efficiency of the program.