Utilization of blood spot testing for metabolic-genetic disorders in Honduras: is it time for newborn screening?
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.
Slaughter
Jonathan L
JL
Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. Jonathan.Slaughter@cchmc.org
Espinoza
Lesby
L
Molinero
Isaac
I
Wood
Tim C
TC
Duron
Carlos
C
Flores
Armando
A
Porter
Robyn
R
Tomashitis
Kathy
K
Holden
Kenton R
KR
D001774:Blood Chemical Analysis / Q000191:economics / Q000379:methods; D001800:Blood Specimen Collection; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006721:Honduras; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008375:Maple Syrup Urine Disease / Q000097:blood / Q000175:diagnosis* / Q000628:therapy; D015997:Neonatal Screening / Q000191:economics / Q000379:methods; D010865:Pilot Projects; D013022:South Carolina; D016896:Treatment Outcome