Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience
| Autor: | Mary Triny Segura, Pedro L. Pérez, Remigio Coto, Amarilys Frómeta, Yileidis Tejeda, Ana Luisa Arteaga, Elisa M. Castells, René Robaina, Ernesto C. González, Pedro Almenares, Tania Espinosa, José Luis Fernández, Lesley del Río, Frank Carvajal |
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| Rok vydání: | 2013 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Birth weight Clinical Biochemistry Early detection Gestational Age Biochemistry Neonatal Screening medicine Birth Weight Humans Congenital adrenal hyperplasia Dried blood Newborn screening Adrenal Hyperplasia Congenital business.industry 17-alpha-Hydroxyprogesterone Incidence Incidence (epidemiology) Biochemistry (medical) Infant Newborn Cuba Infant Gestational age General Medicine medicine.disease Early Diagnosis Mode of delivery Female Dried Blood Spot Testing business |
| Zdroj: | Clinica Chimica Acta. 421:73-78 |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/j.cca.2013.02.020 |
| Popis: | 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 55 nmol/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 22 days. 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. |
| Databáze: | OpenAIRE |
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