Utilization of Blood Spot Testing for Metabolic-Genetic Disorders in Honduras: Is it Time for Newborn Screening?

作者：Slaughter Jonathan L^*; Espinoza Le**y; Molinero Isaac; Wood Tim C; Duron Carlos; Flores Armando; Porter Robyn; Tomashitis Kathy; Holden Kenton R

来源：Journal of Child Neurology, 2010, 25(3): 306-311.

DOI：10.1177/0883073809339059

• newborn screening
• Honduras
• blood spots
• genetic diseases
• inborn errors of metabolism
• neonatal
• congenital

Honduran infant mortality (20/1000) has fallen below the Latin American newborn screening target rate (<30/1000). The authors report 2 Honduran maple syrup urine disease cases and a newborn screening pilot study. The first infant, diagnosed by plasma/urine testing in the U.S., prompted this Study. Although marked clinical/radiological improvement occurred after treatment, moderate neurodevelopmental delays persist at 5 years. This 1-month, prospective study used blood spot specimens from hospitalized term Honduran neonates shipped overnight to South Carolina for routine newborn screening with electronic result submission to Honduras for follow-up. Of 88 consective neonates (mean age: 4.2 days, standard deviation: 4.2 days) tested, 24 (0.6%) of 3837 completed tests were positive. Another infant with maple syrup urine disease, diagnosed after study completion by blood spot testing, later died. The study findings indicate that collaborative blood spot testing aids in the diagnosis of Honduran metabolic-genetic disease. Newborn screening is now needed to diagnose and treat these diseases before morbidity/mortality develops.

• 出版日期2010-3