分类号：R714.53
出版年·卷·期（页码）：2013·5·第3期（9-13）
DOI:
20130303
-----摘要：-------------------------------------------------------------------------------------------
目的 探讨单合子双胎之一为Turner综合征、另一胎儿核型正常的产前诊断方法及选择性减胎的治疗和监测策略。方法 对3例超声发现其中一胎儿颈部淋巴水囊瘤的单绒毛膜双胎行双羊膜腔穿刺，取双胎羊水细胞分别行原位荧光杂交（FISH）检测13、18、21、X、Y染色体数目、羊水细胞培养核型分析及16个多态性微卫星位点标记（STR）检测确定合子性质。3例病例分别行脐带双极电凝减及超声引导射频消融选择性减灭异常胎儿，术后定期超声监测随访。结果 3例患者羊水细胞FISH及核型分析结果均显示为颈部淋巴水囊瘤，胎儿为Turner综合征，其同胞胎儿为正常染色体核型；STR检测显示各对双胎16个位点完全一致，单合子几率达到99.99%；选择性减胎术后超声监测保留胎儿情况良好，其中2例已分娩，出生后随访与同龄婴儿无差异。结论 双胎尤其是单绒毛膜双胎之一颈部淋巴水囊瘤或NT增厚，应警惕单合子双胎之一Turner综合征。双羊膜腔穿刺、羊水细胞核型分析及合子性质鉴定是产前诊断单合子双胎核型不一致的方法；对已确诊其中之一为Turner综合征的单绒毛膜单合子双胎，选择性减灭濒死的异常胎儿为保留正常胎儿提供了可能；超声是诊断和监测的重要措施。
-----英文摘要：---------------------------------------------------------------------------------------
Objective To evaluate the prenatal diagnostic methods and selective feticide in monozygotic twins discordant for Turner syndrome. Method Dual amniocentesis，fluorescence in situ hybridization （FISH） and karyotyping were performed on three cases of monochorionic (MC) twin-pregnancies, which hygroma colli was found in one twin fetus by ultrasound. Zygosity analysis was performed on DNA extracted from amniotic fluid cells of each twin, by using 16 polymorphic microsatellite markers. Selective feticides were operated. Ultrasound monitoring and clinical follow- up were performed every two weeks after selective feticide. Results Abnormal twin was confirmed to be Turner syndrome (45, X ) by FISH and karyotyping in all cases, and the cotwin was normal. DNA studies showed the twins in two cases shared all 16 microsatellite markers which interpreted monozygous probability up to 99.99 %. A normal female infant was born at full term by normal delivery in two cases. Conclusions Abnormal ultrasound findings such as enlarged NT, cystic hygroma in MC twins should prompt consideration of monozygotic twins discordant for Turner syndrome. Dual amniocentesis should be performed when discordant monozygotic twins are suspected. Selective reduction is a valuable treatment option for MC twins discordant for Turner syndrome in which the normal fetus is severely affected by the abnormal co-twin. Ultrasound is indispensable in denoting heterokaryotypia and monitoring after selective feticide.
-----参考文献：---------------------------------------------------------------------------------------
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勾晨雨,方群,周祎 ,陈宝江,谢英俊,黄轩,林少宾.单合子双胎之一Turner综合征的产前诊断及选择性减胎.中国产前诊断杂志,2013,5(3):9-13.
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