First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase.

Prenatal diagnosis of hypophosphatasia was made by alkaline phosphatase (ALP) assay on a chorionic villus sample taken in the first trimester. Monoclonal antibodies against the liver/bone/kidney (LBK) and placental isoenzymes of ALP were used, and the bound isoenzymes were quantified by an amplification system. Very low activities of the LBK isoenzyme indicated an affected fetus. Diagnosis was confirmed by ultrasound scan at 15 weeks' gestation, and by ALP measurement in amniotic fluid supernatant and fetal serum.