1ST-TRIMESTER PRENATAL-DIAGNOSIS OF HYPOPHOSPHATASIA - EXPERIENCE WITH 16 CASES

被引：18

作者：

BROCK, DJH

BARRON, L

机构：

[1] Human Genetics Unit, University of Edinburgh, Western General Hospital, Edinburgh

来源：

PRENATAL DIAGNOSIS | 1991年 / 11卷 / 06期

关键词：

LIVER BONE KIDNEY; ALKALINE PHOSPHATASE; CHORIONIC VILLUS; HYPOPHOSPHATASIA; PRENATAL DIAGNOSIS;

D O I：

10.1002/pd.1970110608

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：387 / 391

页数：5

共 12 条

[1] 2 MONOCLONAL-ANTIBODIES RECOGNIZING DETERMINANTS ON HUMAN EMBRYONAL CARCINOMA-CELLS REACT SPECIFICALLY WITH THE LIVER ISOZYME OF HUMAN ALKALINE-PHOSPHATASE [J].