荧光原位杂交检测在产前诊断性染色体嵌合中的应用

付玉荣; 郭志超; 马莹; 卢彦平; 高志英; 张立文; 姜淑芳

doi:10.3969/j.issn.2095-5227.2019.09.002

荧光原位杂交检测在产前诊断性染色体嵌合中的应用

Application of fluorescent in situ hybridization in prenatal diagnosis of sex chromosome mosaicism

摘要

摘要:
目的探讨荧光原位杂交(fluorescence in situ hybridization，FISH)检测在产前诊断性染色体嵌合中的应用价值。
方法回顾性分析2017-2018年1 439例在解放军总医院第一医学中心行羊膜腔穿刺术常规检测FISH(FISH检测选取13、18、21、X、Y五条染色体特异性探针进行杂交)与染色体核型的实验结果，并将部分病例结合超声及染色体基因芯片技术进一步分析。
结果 FISH共检出13、18、21、X、Y染色体数目异常98例，其中90例染色体数目异常结果与核型结果完全一致；检测嵌合体共8例，1例为常染色体嵌合体，7例为性染色体嵌合体，其中3例与核型结果不一致：FISH检测结果分别为XO/XY/XYY、XO/XX、XO/XY，染色体核型结果分别为45, X9/46, X, dic(Y)(P11)11、45, X40/46, X, +mar、45, XO。
结论产前诊断中FISH能够快速检测胎儿染色体数目异常，为临床明确性染色体嵌合的诊断提供依据、赢得时间，具有重要的临床应用价值。

Abstract:
Objective To investigate the value of fluorescence in situ hybridization (FISH) in the prenatal diagnosis of sex chromosome mosaicism.
Methods The results of FISH (13, 18, 21, X, Y chromosome-specific probe hybridization) and karyotyping in 1439 cases who underwent amniocentesis in the first medical center of Chinese PLA General Hospital from 2017 to 2018 were retrospectively analyzed. Furthermore some cases were analyzed by ultrasound and chromosomal gene chip technology.
Results FISH identified abnormalities in chromosomes 13, 18, 21, X and Y in 98 cases. Karyotype results were completely consistent with FISH in 90 cases. Mosaic were detected in 8 cases, including one autosome mosaic and 7 sex chromosomes mosaic; These results were inconsistent in 3 cases when compared to karyotyping; the FISH results were XO/XY/XYY, XO/XX, XO/XY, while chromosome karyotyping results were (45, X9/46, X, dic(Y)(P11)11), (45, X40/46, X, +mar), (45, XO), respectively.
Conclusion FISH can quickly detect fetal chromosome number abnormalities, provide evidences for the diagnosis of sex chromosome mosaicism, which is of important clinical application value.

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