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各孕期产前诊断取材技术的临床应用 被引量:8

The study on clinical application of the techniques to obtain fetal tissues during any gestational phase in prenatal diagnosis.
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摘要 目的:探讨各孕期产前诊断取材技术的准确性、安全性,研究提高取材成功率和减少并发症的方法.方法:在妊娠7~12周,超声引导下行绒毛吸取术28例;妊娠14~22周超声引导下行羊膜腔穿刺术50例;妊娠22~37周超声引导下行脐带穿刺术123例.结果:绒毛吸取术、羊水穿刺、脐带穿刺的成功率分别为96.4%(27/28)、100%(50/50)、93.5%(115/123).在201例中发现3例21三体、1例18三体、1例Turner综合征;4例绒毛性别鉴定男性胚胎;9例Ⅷ因子<40%;2例检测到CMV-DNA;1例CMV-IgM阳性并心肌酶谱高于正常;亲子鉴定非丈夫血缘3例;1例DMD,共25例(绒毛5例、羊水2例、胎儿血18例),得出产前诊断结果后终止妊娠.占所有产前诊断病例的12.4%(25/201).另诊断出2例非同源染色体平衡易位;3例非同源染色体罗氏易位.结论:根据孕周和产前诊断指征选择恰当的取材时机,在不同孕周取得胎儿不同标本,按照本研究的方法可以提高产前诊断取材的准确率和成功率. Objective:To explore the security and accuracy of the techniques to obtain fetal tissues during any gestational phase in prenatal diagnosis. To study the methods of decreasing the complications and increasing the successful rate of sampling. Methods: Under uhrasound-guided the authors carried out chorionic villous samplings (CVS) for 28 cases whose gesrational age were 7-12 weeks, amniocentesis for 50 cases whose gestational age were 14-22 weeks, cordocentesis for 123 cases whose gestational age were 22-37 weeks. Results:The successful rate of obtaining samples was as follows: CVS 96.4% (27/28), amniocentesis 100% ( 50/50), cordocentesis 93.5 % ( 115/123 ). In all 201 cases there were three Trisomy 21 fetuses, one Trisomy 18 fetus, one Tumer's syndrome fetus, four male embryos determined by CVS, nine hemophilia A fetuses, two CMV-DNA positive fetuses, one CMV-IgM positive fetus, three cases of non-husband-consanguinity by identification in disputed paternity. Beside these, there were five cases of homosome balanced translocations. Conclusion: Depending the gestational age and prenatal diagnostic indications ,the suitable time and method for sampling are chosen, the accuracy and success of the techniques to obtain fetal tissues can be improved according to this procedure.
出处 《现代妇产科进展》 CSCD 北大核心 2005年第5期393-396,共4页 Progress in Obstetrics and Gynecology
关键词 妊娠期 产前诊断 绒毛膜绒毛取样 羊膜腔穿刺术 脐带穿刺术 Pregnancy period Prenatal diagnosis Chorionic villi sampling Amniocentesis Cordocentesis
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