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First‐trimester prenatal diagnosis of hypophosphatasia: Experience with 16 cases
Author(s) -
Brock David J. H.,
Barron Lilias
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.1970110608
Subject(s) - hypophosphatasia , prenatal diagnosis , medicine , chorionic villi , alkaline phosphatase , obstetrics , first trimester , pregnancy , chorionic villus sampling , fetus , biology , enzyme , genetics , biochemistry
We have carried out first‐trimester prenatal diagnosis of hypophosphatasia in 1 6 pregnancies with a 1 in 4 risk of this condition. The liver/bone/kidney isoenzyme of alkaline phosphatase was measured in chorionic villus samples using a specific monoclonal antibody and an enzymatic amplification system. Fifteen of the 16 pregnancies were correctly predicted, while one has been lost to follow up. We suggest that this assay system is likely to be superior to DNA‐base methods for the first‐trimester prenatal diagnosis of hypophosphatasia.