染色体核型分析联合产前BoBs技术进行羊水产前诊断的应用价值研究

Application value of chromosome karyotype analysis combined with prenatal Bo Bs technique in prenatal diagnosis of amniotic fluid

目的探讨传统染色体核型分析技术联合基于细菌人工染色体标记微球的产前BACs-on-Beads(BoBs)技术在产前诊断中的临床应用价值。方法对2017年2月16日至2018年12月20日来陕西省宝鸡市妇幼保健院产前门诊就诊的有产前诊断指征的1113位孕妇行B超引导下经腹羊膜腔穿刺术,联合应用传统核型分析与产前BoBs技术对羊水样本进行遗传学产前诊断。结果1113例羊水样本核型分析和产前BoBs检测成功率为100%。其中1031例样本应用两种检测方法结果均为正常。产前BoBs共检出29例21-三体综合征、5例18-三体综合征和8例性染色体数目异常,与核型分析结果符合率为100%。此外,产前BoBs还检出了2例微重复和1例微缺失,这2例微重复异常的核型分析结果均为正常,1例10号染色体的微缺失产前BoBs与核型分析同时检出。另有37例样本核型分析结果异常(包括染色体易位5例、倒位7例、标记染色体2例,大Y染色体5例和其他染色体多态现象18例),不在产前BoBs设计的目标染色体探针检测范围之内。结论产前BoBs可以快速准确地检出13号、18号、21号染色体和X、Y染色体的非整倍体变异和9种微缺失/微重复综合征,尤其在目标染色体数目异常检测方面,此技术与核型分析结果一致性好,与传统核型分析技术联合使用能提高胎儿常见染色体异常及微缺失综合征的检出率和检测效率,又能缓解受检者等待的焦虑情绪,具有很高的临床应用价值。

Objective:To explore the clinical value of traditional chromosome karyotype analysis combined with BACs-on-Beads(BoBs)technique in prenatal diagnosis.Methods:From February 16,2017 to December 20,2018,there were 1113 pregnant women with prenatal diagnostic indications in the prenatal clinic of Baoji Maternal and Child Health Hospital of Shaanxi Province who were treated with ultrasound-guided transperitoneal amniocentesis,and traditional karyotype analysis and prenatal BoBs technique were used to genetics prenatal diagnosis of those amniotic fluid samples.Results:The success rate of karyotype analysis and prenatal BoBs detection in 1113 amniotic fluid samples was 100%.In 1031 samples,the results of the two methods were normal.Prenatal BoBs detected 29 cases of trisomy 21 syndrome,5 cases of trisomy 18 syndrome and 8 cases of abnormal number of sex chromosomes,and the coincidence rate with karyotype analysis was 100%.In addition,two cases of microduplication and one case of microdeletion were detected in prenatal BoBs.The karyotype analysis results of the two cases of microduplication were normal.One case of chromosome 10 microdeletion was detected in prenatal BoBs and karyotype analysis at the same time.The results of karyotype analysis of 37 samples were abnormal(5 cases of chromosome translocation,7 cases of inversion,2 cases of labeled chromosome,5 cases of large Y chromosome and 18 cases of other chromosome polymorphism),which was not within the scope of the target chromosome probe designed by BoBs before delivery.Conclusion:Aneuploid mutations of chromosomes 13,18,21 and X,Y and 9 kinds of microdeletion/microduplication syndrome can be detected quickly and accurately by prenatal BoBs.This technique is in good agreement with the results of karyotype analysis,especially in the detection of abnormal number of target chromosomes.Prenatal BoBs combined with traditional karyotype analysis technology can improve the detection rate and efficiency of fetal chromosomal abnormalities and microdeletion syndrome,and alleviate the anxiety of patients waiting,which has high clinical value.