Patrick A D, Young E, Ellis C, Rodeck C H
Institute of Child Health, London, U.K.
Prenat Diagn. 1988 May;8(4):303-6. doi: 10.1002/pd.1970080410.
Multiple sulphatase deficiency was diagnosed in the first trimester of pregnancy by demonstrating markedly reduced activities of arylsulphatases and heparin sulphamidase by direct assays on chorionic villi (CV). The diagnosis was confirmed by assays on cell cultures of villi and fetal skin fibroblasts. Two further pregnancies of this mother were monitored similarly and predicted to be unaffected; one produced a normal healthy infant, the other miscarried shortly after CV sampling.
通过对绒毛膜绒毛（CV）进行直接检测，发现芳基硫酸酯酶和硫酸乙酰肝素酰胺酶的活性显著降低，从而在妊娠早期诊断出多重硫酸酯酶缺乏症。通过对绒毛和胎儿皮肤成纤维细胞的细胞培养检测，确诊了该疾病。对这位母亲的另外两次怀孕也进行了类似监测，并预测不会受到影响；一次分娩出一名健康正常的婴儿，另一次在采集CV样本后不久发生流产。
