First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases.
We have carried out first-trimester prenatal diagnosis of hypophosphatasia in 16 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.
Human Genetics Unit, University of Edinburgh, Western General Hospital, U.K.
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DJ
Brock
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Barron
D000469:Alkaline Phosphatase / Q000032:analysis; D000911:Antibodies, Monoclonal; D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000175:diagnosis*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D015203:Reproducibility of Results
D000911:Antibodies, Monoclonal; D000469:Alkaline Phosphatase