【摘要】 目的探讨黏多糖贮积症Ⅱ型非损伤性产前诊断途径。方法测定36例孕妇孕前、孕早期和孕中期外周血浆中艾杜糖-2-硫酸酯酶(IDS)活性变化趋势,同时,测定胎儿绒毛组织或经培养羊水细胞中IDS酶活性,并提取胎儿DNA,进行胎儿性别鉴定和IDS基因分析。结果有创产前诊断检出19例正常胎儿(7例男性不受累胎儿、12例女性非携带者胎儿)、7例男性受累胎儿、9例女性携带者胎儿和1例双胎(一男一女,不受累);正常胎儿孕母在孕前、孕早、中期血浆中IDS的活性分别为283.4±81.6、470.5±89.4、507.9±81.0nmol/4h·ml(男性不受累胎儿)和306.0±85.5、455.8±129.4、513.3±157.6nmol/4h·ml(女性非携带者胎儿),均显著高于男性受累胎儿和女性携带者胎儿孕母同期血浆IDS活性(分别为160.5±47.5、145.8±36.8、144.9±45.8nmol/4h·ml和214.9±74.8、327.6±133.4、375.3±120.4nmol/4h·ml)(P<0.05);正常胎儿和女性携带者胎儿孕母血浆IDS活性随着孕周的增加持续升高(P<0.05),但女性携带者胎儿组升高的幅度较正常胎儿组小;当为男性受累胎儿时,孕妇血浆IDS活性早期即显示低于孕前,且随着孕周的增加,酶活性持续降低。结论孕妇外周血中IDS活性测定可用于黏多糖贮积症Ⅱ型的非损伤性产前诊断。更多还原

【Abstract】 Objective:To investigate the feasibility of non-invasive prenatal diagnosis for mucopolysaccharidosis type Ⅱ.Methods:The activity of iduronte-2-sulphate sulphatase(IDS)in plasma was detected in 36 pregnant women before pregnancy,at the first trimester and second trimester.Meanwhile,the IDS activity in chorionic villus or cultured amniotic fluid cells was also determined.The fetal DNA was extracted for fetal sex determination and IDS gene mutation analysis.Results:Nineteen normal fetuses(7unaffected male fetuses and 12 normal female fetuses,7affected male fetuses,9female carrier fetuses,and one normal twins have been detected with invasive prenatal diagnosis.IDS activity in plasma of pregnant women with normal fetuses before pregnancy,at the first trimester and second trimester was 283.4±81.6,470.5±89.4,507.9±81.0nmol/4hours·ml(unaffected male fetus)and(306.0±85.5,455.8±129.4,513.3±157.6nmol/4hours·ml)(normal female fetus)respectively,which was significantly higher than that of pregnant women with affected male fetus(160.5±47.5,145.8±36.8,144.9±45.8nmol/4hours·ml)or female carrier fetus(214.9±74.8,327.6±133.4,375.3±120.4nmol/4hours·ml)(P<0.05).IDS activity in plasma of pregnant women with normal fetus or female carrier fetus was increased along with increased gestational weeks(P<0.05).The increase extent of IDS activity in plasma of pregnant women with female carrier fetus was less than that in pregnant women with normal fetus.IDS activity in plasma of pregnant women with affected male fetus was decreased at early pregnancy than that before pregnancy,and the IDS activity was continuously decreased along with increased gestational weeks.Conclusions:Determination of iduronte-2-sulphate sulphatase activity in maternal plasma can be used for non-invasive prenatal diagnosis of mucopolysaccharidosis typeⅡ.更多还原