Sanguinetti N, Marsh J, Jackson M, Fensom A H, Warren R C, Rodeck C H
Clin Genet. 1986 Oct;30(4):302-8. doi: 10.1111/j.1399-0004.1986.tb00611.x.
Three pregnancies at risk for late infantile metachromatic leucodystrophy have been monitored using chorionic villus biopsies. In the first of these a false negative diagnosis was made following assay of arylsulphatase A in villi. Subsequent studies have shown that this error was probably due to interference from another sulphatase in the villi, although the possibility that maternal contamination was also partly responsible could not be excluded. For reliable prenatal diagnosis of metachromatic leucodystrophy using chorionic villi it is advisable that studies with the nitrocatechol substrate are carried out on fractionated homogenates, or that the natural substrate is used. Problems may also occur when chorionic villi are used for assay of arylsulphatase B for first trimester diagnosis of Maroteaux-Lamy disease.
对三例有晚发性婴儿异染性脑白质营养不良风险的妊娠进行了绒毛取样监测。其中第一例，对绒毛中的芳基硫酸酯酶A进行检测后做出了假阴性诊断。后续研究表明，这一错误可能是由于绒毛中另一种硫酸酯酶的干扰，尽管不能排除母体污染也有部分责任的可能性。为了使用绒毛对异染性脑白质营养不良进行可靠的产前诊断，建议对分级匀浆进行硝基儿茶酚底物研究，或者使用天然底物。当使用绒毛对芳基硫酸酯酶B进行检测以用于孕早期诊断马罗-拉米病时，也可能会出现问题。
