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Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy
Author(s) -
Besançon AnneMarie,
Castelnau Laetitia,
Nicolesco Henriette,
Dumez Yves,
Poenaru Livia
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00235.x
Subject(s) - chorionic villi , prenatal diagnosis , biopsy , medicine , chorionic villus sampling , disease , pregnancy , pathology , biology , fetus , genetics
Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay on amniotic cells; two affected fetuses that were diagnosed and confirmed on post‐abortion fetal tissues. In one case a residual acid a‐glucosidase activity was found; we concluded that the residual activity was due to maternal contamination. Prenatal diagnosis of Pompe's disease is therefore possible using chorionic villi biopsy.