Journal of inherited metabolic disease · 2010
Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.
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San Millan Beatriz, Teijeira Susana, Domínguez Carmen, Vieitez Irene, Navarro Carmen
Аннотация
OBJECTIVE: To perform the ultrastructural examination of a chorionic villi biopsy as a predictor of foetal involvement in the infantile form of glycogenosis type II (Pompe disease).
METHODS: Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three consecutive pregnancies in a woman with a previous child affected by Pompe disease.
RESULTS: In the only affected foetus, glycogen storage was observed in fibrocytes and endothelial cells of a chorionic villi sample at 11 week's gestation. Severe multi-organ involvement was demonstrated in the tissues of the aborted foetus. No abnormal material was found in the chorionic samples of two subsequent pregnancies, and a healthy boy and girl were born at term and remain unaffected. Both exhibited a partial reduction in acid maltase and were carriers of the maternal mutation.
CONCLUSIONS: Ultrastructural findings correlated with biochemical and genetic results, providing a clear and early indicator of the definite diagnosis for future pregnancy management or an early therapeutic approach.
METHODS: Ultrastructural, biochemical and genetic analyses were performed on chorionic villi biopsies of three consecutive pregnancies in a woman with a previous child affected by Pompe disease.
RESULTS: In the only affected foetus, glycogen storage was observed in fibrocytes and endothelial cells of a chorionic villi sample at 11 week's gestation. Severe multi-organ involvement was demonstrated in the tissues of the aborted foetus. No abnormal material was found in the chorionic samples of two subsequent pregnancies, and a healthy boy and girl were born at term and remain unaffected. Both exhibited a partial reduction in acid maltase and were carriers of the maternal mutation.
CONCLUSIONS: Ultrastructural findings correlated with biochemical and genetic results, providing a clear and early indicator of the definite diagnosis for future pregnancy management or an early therapeutic approach.
Предметные рубрики MeSH
Cells, CulturedChorionic VilliChorionic Villi SamplingDNA Mutational AnalysisEndothelial CellsFatal OutcomeFemaleFibroblastsGenetic Predisposition to DiseaseGenetic TestingGestational AgeGlycogenGlycogen Storage Disease Type IIHeterozygoteHumansInfant, NewbornMaleMicroscopy, Electron, TransmissionMutationPedigreePhenotypePredictive Value of TestsPregnancyPrenatal Diagnosisalpha-Glucosidases