First‐trimester prenatal diagnosis of hypophosphatasia: Experience with 16 cases
- 1 June 1991
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 11 (6) , 387-391
- https://doi.org/10.1002/pd.1970110608
Abstract
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.Keywords
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