孕早期淋巴水囊瘤胎儿的绒毛染色体及微阵列结果分析

发布时间：2018-04-24 10:43

本文选题：淋巴水囊瘤 + 产前诊断　；参考：《中国产前诊断杂志(电子版)》2016年04期

【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。
[Abstract]:Objective to analyze the chorionic chromosomes and microarray findings of fetuses with simple lymphocystoma in early pregnancy, and to provide evidence for genetic counseling. Methods the single pregnancy fetus diagnosed as simple lymphoid sac tumor and chorionic puncture before 14 weeks of gestation was included. The results of chromosome and microarray were analyzed retrospectively. Results among the 29 fetuses, 21 cases had chromosomal abnormalities, of which 18 cases were abnormal chromosomal aneuploidy and 1 case was annular chromosome. 1 case was chromosome translocation and 1 case was chromosome partial duplication. Of the microarray results, 22 were abnormal. Conclusion the fetal chromosomal abnormality rate of simple lymphocystoma diagnosed by ultrasound in early pregnancy is higher than that of the fetus. The detection of chromosomal abnormalities can be helpful to identify the specific segments of chromosomal abnormalities and the possible pathogenic genes. Chromosome karyotype analysis is still an important way to find out the etiology of simple lymphocystoma fetus.
【作者单位】：广东省妇幼保健院医学遗传中心;
【分类号】：R714.5

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