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First trimester diagnosis of Gaucher disease in a fetus with trisomy 21
Author(s) -
Besley G. T. N.,
FergusonSmith M. E.,
Frew C.,
Morris A.,
Gilmore D. H.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080612
Subject(s) - chorionic villus sampling , prenatal diagnosis , karyotype , chorionic villi , trisomy , fetus , gestation , obstetrics , medicine , pregnancy , biology , chromosome , genetics , gene
Abstract A 38‐year‐old lady, who had a previous infant with type 2 Gaucher disease, underwent prenatal diagnosis by chorionic villus sampling at 9 weeks' gestation. Results on the fresh villus revealed a 47,XY,+21 karyotype and a marked deficiency (2 per cent of control) of β‐glucosidase activity. Following termination, villus material was cultured which initially revealed only a partial enzyme deficiency and a normal female karyotype, i.e., maternal cells. A subsequent culture contained 47,XY, + 21 cells which were deficient in β‐glucosidase activity, thus confirming the diagnosis. The results in this interesting case illustrate the potential dangers of maternal cell contamination in cultured villus cells.