孕早期淋巴水囊瘤胎儿的绒毛染色体及微阵列结果分析  

Analysis of chorionic villi karyotypes and array-CGH outcomes of fetus with cystic hygroma which was diognosed by ultrasound before 14 weeks

作　　者：饶腾子[1] 李玲[1] 钟燕芳[1] 刘倩[1] 魏然[1] 

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州510010

出　　处：《中国产前诊断杂志（电子版）》2016年第4期57-59,82,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的分析孕早期超声发现的单纯性淋巴水囊瘤胎儿的绒毛染色体及微阵列结果,为遗传咨询提供依据。方法纳入孕14周前超声诊断为单纯性淋巴水囊瘤并行绒毛穿刺产前诊断的单胎妊娠胎儿。回顾性分析其染色体及微阵列结果。结果 29例胎儿中,共有21例(72%)胎儿染色体异常,其中18例为染色体非整倍体异常,1例为环状染色体,1例为染色体易位,1例为染色体部分重复。微阵列结果中,共有22例(76%)异常。结论早孕期超声诊断为单纯性淋巴水囊瘤胎儿染色体异常率较高,array-CGH检查有助于明确染色体异常中的具体片段及可能包含的致病基因。染色体核型分析仍是单纯性淋巴水囊瘤胎儿查找病因的重要方式。Objective To provide the basis for genetic counseling of fetus with cystic hygroma, we analyzed the karyotypes and array CGH outcomes of fetus with cystic hygroma which was diagnosed by ultrasound before 14 weeks. Method We retrospectively analyzed the karyotypes and array-CGH outcomes of single fetus with cystic hygroma which was diognosed by ultrasound before 14 weeks. All these fetus took ehorionie villus for prenatal diagnosis. Results 29 cases of fetus, 21 cases （72%） of fetus had chromo somal abnormalities, including 18 cases of abnormal chromosome aneuploidy, 1 case of ring chromosome, 1 cases of chromosome translocation, 1 cases of chromosome repeat. As to the results of array-CGH, 22 cases （76% ） were CNVs. Conclusions The chromosome abnormality rate was rather high in the single fe tus with cystic hygroma which was diognosed by ultrasound before 14 weeks. Array-CGH was helpful to confirm the specific chromosomal abnormalities and pathogenic gene. Karyotype analysis was still the im portant way to find the cause of fetus with cystic hygroma.

关 键 词：淋巴水囊瘤 产前诊断 染色体核型分析 微阵列 

分 类 号：R714.5[医药卫生—妇产科学]