本文選題：淋巴水囊瘤 + 產(chǎn)前診斷　； 參考：《中國產(chǎn)前診斷雜志(電子版)》2016年04期

【摘要】：目的分析孕早期超聲發(fā)現(xiàn)的單純性淋巴水囊瘤胎兒的絨毛染色體及微陣列結(jié)果,為遺傳咨詢提供依據(jù)。方法納入孕14周前超聲診斷為單純性淋巴水囊瘤并行絨毛穿刺產(chǎn)前診斷的單胎妊娠胎兒�；仡櫺苑治銎淙旧w及微陣列結(jié)果。結(jié)果 29例胎兒中,共有21例(72%)胎兒染色體異常,其中18例為染色體非整倍體異常,1例為環(huán)狀染色體,1例為染色體易位,1例為染色體部分重復(fù)。微陣列結(jié)果中,共有22例(76%)異常。結(jié)論早孕期超聲診斷為單純性淋巴水囊瘤胎兒染色體異常率較高,array-CGH檢查有助于明確染色體異常中的具體片段及可能包含的致病基因。染色體核型分析仍是單純性淋巴水囊瘤胎兒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.
【作者單位】： 廣東省婦幼保健院醫(yī)學(xué)遺傳中心;
【分類號】：R714.5

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