Karyotype analysis and FISH detection for the diagnosis of fetal etiology
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摘要:
目的 探讨染色体核型分析技术及荧光原位杂交（FISH）技术两种检测方法在胚胎停育患者胎儿病因学诊断中的应用。 方法 对78例胚胎停育患者清宫后的妊娠组织行细胞培养后做染色体核型分析；若培养失败，采用FISH进行分析。 结果 78例胚胎停育患者的妊娠组织，染色体培养且成功用于核型分析者38例，其中检出正常核型23例、异常核型15例、常染色体三体8例、三倍体1例、性染色体异常3例、结构异常3例。40例染色体培养失败，采取FISH检测，检出正常染色体15例，异常染色体25例，其中常染色体三体占19例、三倍体2例、45XO 4例。 结论 胚胎停育的主要原因是胚胎染色体异常导致。通过染色体核型分析及FISH检测对胚胎停育的妊娠组织进行分析，两种方法对异常核型和常染色体数目异常的检出有明显差异，对胚胎坏死时间长的妊娠组织，FISH成功率更高。临床上应结合两种检测方法用于胚胎停育的原因分析，为下次妊娠提出指导意见。 Abstract:Objective To explore the application of two detection methods of chromosome karyotype analysis and fluorescence in situ hybridization (FISH) in the diagnosis of fetal etiology. Methods Chromosome karyotype analysis was performed in 78 cases of pregnancy after embryo damage.If the culture fails, fluorescence in situ hybridization (FISH) was used. Results The pregnancy tissue of 78 patients with embryo abortion, chromosome culture and successful use in 38 cases of karyotype analysis. Among them, there were 23 normal karyotypes, 15 abnormal karyotypes, 8 cases of autosomal trisomy, 1 case of triploid, 3 cases of sexual chromosome abnormality, and 3 structural abnormalities.Forty cases of chromosomal failure were detected by FISH, 15 of the normal chromosomes were detected. Twenty-five cases of abnormal chromosome, with 19 cases of autosomal trisomy, 2 cases of triploid and 4 cases of 45XO. Conclusion The main cause of embryo abortion is the abnormal chromosome of the embryo. The pregnancy tissues are analyzed by karyotype analysis and FISH detection. The differences in the detection of abnormal karyotype and abnormal chromosome number are significant . FISH has a higher success rate in the embryo abortion tissue with prolonged necrosis. Two methods should be used to analyze the cause of embryo abortion.It provides guidance for the next pregnancy. -
Key words:
- embryo damage /
- missed abortion /
- karyotype analysis /
- fluorescence in situ hybridization /
- chromosome
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表 1 两组孕妇年龄、孕周及孕次比较 （Mean±SD）
分组 年龄（岁） 孕周（d） 孕次（次） 染色体核型分析 29.21±4.26 75.71±10.92 1.53±1.33 FISH检测 29.3±5.17 74.93±11.97 1.15±1.51 
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表 2 38例绒毛染色体异常核型及40例绒毛细胞异常FISH检测结果
类别 染色体核型 例数 占比（%） FISH结果 例数 占比（%） χ2 P 总异常染色体数目 15 25 4.14 0.04 常染色体数目异常 47，XN，+21 3 7.89 47，XN，+22 2 5.00 47，XN，+20 1 2.63 47，XN，+21 8 20 6.02 0.014 47，XN，+16 1 2.63 47，XN，+18 4 10 47，XN，+15 2 5.26 47，XN，+16 3 7.50 47，XN，+13 1 2.63 47，XN，+13 2 5.00 三倍体 69XXY 1 2.63 69XXY 2 5.00 0.002 0.96 性染色体异常 47，XXY 1 2.63 0.005 0.94 45XO 2 5.26 45XO 4 10 结构异常 46, XY, 4qter- 1 2.63 1.50 0.22 46XXdirdup（1） 2 5.26
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