martes, 26 de marzo de 2013

Newborn screening for congenital adrenal hype... [Clin Chim Acta. 2013] - PubMed - NCBI

2013 Feb 26. pii: S0009-8981(13)00075-2. doi: 10.1016/j.cca.2013.02.020. [Epub ahead of print]

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

González EC, Carvajal F, Frómeta A, Arteaga AL, Castells EM, Espinosa T, Coto R, Pérez PL, Tejeda Y, Del Río L, Segura MT, Almenares P, Robaina R, Fernández JL.

Source

Department of Neonatal Screening, Immunoassay Center, 134th Street and 25th Avenue, P.O. Box 6653, Cubanacan, Playa, Havana, Cuba. Electronic address: iqtsh3@cie.sld.cu .

Abstract

BACKGROUND:

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.

METHODS:

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.

RESULTS:

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.

CONCLUSIONS:

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.
Copyright © 2013 Elsevier B.V. All rights reserved.