Zlotogora J, Bach G
Am J Hum Genet. 1986 Feb;38(2):253-60.
Iduronate sulfate sulfatase (ISS), the deficient hydrolase in Hunter syndrome, consistently increases in the serum of pregnant women, reaching a three- to fourfold increase from pre-pregnancy levels toward the end of pregnancy. In Hunter carriers, a correlation occurs between the status of the fetus with regard to Hunter syndrome and the ISS increase in maternal serum. Thus, in pregnancies with Hunter-affected fetuses, enzyme levels did not change in the serum of heterozygous mothers until abortion was performed, while in nonaffected fetuses, ISS increased usually very early in pregnancy--as early as the 6th-12th week. In heterozygote female fetuses, this increase might be delayed. These data imply that a prenatal diagnosis of Hunter syndrome might be accomplished in maternal serum at early conventional procedures for the prenatal diagnosis of Hunter syndrome.
艾杜糖醛酸硫酸酯酶（ISS）是亨特综合征中缺乏的水解酶，在孕妇血清中持续升高，妊娠末期比妊娠前水平增加三到四倍。在亨特综合征携带者中，胎儿患亨特综合征的状况与母体血清中ISS升高之间存在相关性。因此，在怀有患亨特综合征胎儿的妊娠中，杂合子母亲血清中的酶水平在流产前没有变化，而在未受影响的胎儿中，ISS通常在妊娠早期——早在第6至12周就升高。在杂合子雌性胎儿中，这种升高可能会延迟。这些数据表明，在进行亨特综合征产前诊断的早期常规程序时，可在母体血清中实现亨特综合征的产前诊断。
