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

¹ Division of Neonatology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio
² Departamento de Pediatría, Hospital Escuela Materno-Infantil, Tegucigalpa, Honduras
³ Facultad de Ciencias Médicas, Universidad Nacional Autónoma de Honduras, Tegucigalpa, Honduras
⁴ Greenwood Genetic Center, Greenwood, South Carolina
⁵ Department of Disabilities and Special Needs, South Carolina State Newborn Screening Laboratory, Columbia, South Carolina
⁶ Greenwood Genetic Center, Greenwood, and Departments of Neurosciences and Pediatrics, Medical University of South Carolina, Charleston, South Carolina

^* To whom correspondence should be addressed. E-mail: jonathan.slaughter{at}cchmc.org.

	Abstract

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 consecutive 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.

First published on October 21, 2009
Journal of Child Neurology 2009, doi:10.1177/0883073809339059


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