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First‐trimester diagnosis of hypophosphatasia. Importance of gestational age and of purity of CV samples
Author(s) -
Muller F.,
Ouryß J. F.,
Bussière P.,
Lewin F.,
Boué Joëlle
Publication year - 1991
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.1970110910
Subject(s) - hypophosphatasia , gestation , chorionic villi , fetus , alkaline phosphatase , gestational age , pregnancy , chorionic villus sampling , medicine , endocrinology , biology , obstetrics , prenatal diagnosis , andrology , first trimester , enzyme , biochemistry , genetics
Prenatal diagnosis of hypophosphatasia was made by alkaline phosphatase (ALP) assay on a chorionic villous sample taken in the first trimester. Very low activities of the LBK isoenzyrnes indicated an affected fetus. Diagnosis was confirmed at 12 weeks of gestation by measurement of LBK isoenzyme activities in fetal bone tissue. In control chorionic villous samples an inverse relation was observed between LBK and placental ALP percentage during gestational age. High LBK ALP activities are observed in decidual tissue. Chorionic villous tissue must not be sampled after 12 weeks of gestation and decidual tissue must be excluded from the sample.