Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.
Genet Med
; 21(7): 1644-1651, 2019 07.
Article
en En
| MEDLINE
| ID: mdl-30546085
ABSTRACT
PURPOSE:
Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate and low positive predictive value. To improve accuracy of presymptomatic prediction, we propose a screening tool based on two biomarkers, psychosine and galactocerebrosidase enzyme activity (GalC).METHODS:
We developed the tool using measures from dried blood spots of 166 normal newborns and tested it on dried blood spot measures from 15 newborns who later developed KD, 8 newborns identified as "high risk" by the New York screening protocol but were disease-free at follow-up, and 3 symptomatic children with onset before 4 years of age. The tool was developed from the (1-10-6)100% prediction region of the natural logarithms of psychosine and GalC measures, assuming bivariate normality, and their univariate normal limits.RESULTS:
Krabbe disease was predicted correctly for every patient who developed symptoms in infancy or early childhood. None of the high-risk patients were incorrectly identified as having early KD.CONCLUSION:
Bivariate analysis of psychosine and GalC in newborn blood spots can accurately predict early Krabbe symptoms, control false positive rates, and permit presymptomatic treatment.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Psicosina
/
Pruebas con Sangre Seca
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Galactosilceramidasa
/
Leucodistrofia de Células Globoides
Tipo de estudio:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Idioma:
En
Revista:
Genet Med
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article