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Fumarylacetoacetase activity in cultured and non‐cultured chorionic villus cells, and assay in two high‐risk pregnancies
Author(s) -
McCormack M. J.,
Walker E.,
Gray R. G.,
Newton J. R.,
Green A.
Publication year - 1992
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.1970121006
Subject(s) - chorionic villus sampling , chorionic villi , prenatal diagnosis , fetus , andrology , gestational age , enzyme , tyrosinemia , biology , enzyme assay , pregnancy , medicine , endocrinology , biochemistry , genetics , tyrosine
We describe further development of the fumarylacetoacetase (FAA) assay for the prenatal diagnosis of tyrosinaemia type 1 using chorionic villus sampling (CVS). We have established a reference range for FAA activity in cultured villus cells and have confirmed previously reported data on the FAA activity in uncultured chorionic villus cells. This should allow confirmation of results using CVS, without the need for further invasive procedures. We report the FAA enzyme stability at −70°C, +4°C, and at room temperature, and we have shown no obvious difference in enzyme activity with gestational age. We have analysed cultured and non‐cultured CVS activity of FAA in two pregnancies at risk of tyrosinaemia type 1. In both, the fetus was designated unaffected, and these results were confirmed postnatally.