BoBs技术用于胎儿性染色体异常产前诊断的临床效能评价  

Evaluation of the clinical efllcacy of BoBs technique in prenatal diagnosis of fetal sex chromosome abnormalities

作　　者：王路明[1] 杨莉 宋勤浩[1] 金玉霞[1] 刘晓丹[1] WANG Lu-ming;YANG Li;SONG Qin-hao;JIN Yu-xia;UU Xiao-dan(Prenatal Diagnosis Center,Jiaxing Maternal and Child Health Care Hospital,Jiaxing,Zhejiang 314000,China)

机构地区：[1]嘉兴市妇幼保健院产前诊断中心,浙江嘉兴314000

出　　处：《中国卫生检验杂志》2021年第18期2237-2241,共5页Chinese Journal of Health Laboratory Technology

基　　金：嘉兴市科技计划项目(2019AD32060);贺林院士新医学科研基金(19331205)。

摘　　要：目的 探讨产前Bo Bs技术在性染色体异常产前诊断中的临床效能。方法 选择2014年7月-2019年12月于嘉兴市妇幼保健院产前诊断中心接受羊膜腔穿刺术的孕妇4 691例,利用产前Bo Bs技术和G显带染色体核型分析进行诊断,若Bo Bs检测结果提示微缺失/微重复的病例,再行SNP-array基因芯片检测进一步确诊,期间全程记录孕妇的妊娠情况。结果 产前Bo Bs检测成功4 686例,共计检出性染色体异常55例,其中数目异常32例,与染色体核型分析结果一致;微缺失/微重复23例,其中17例行基因芯片验证,两者结果一致。此外,核型分析还检出Bo Bs漏检异常7例。产前Bo Bs技术与参比方法(核型分析+基因芯片)结果一致性较好(Kappa=0. 901),无统计学差异(P=0. 549)。产前Bo Bs技术、染色体核型分析、SNP-array基因芯片联合应用最终确认性染色体异常病例58例,终止妊娠28例、分娩活产24例、分娩死胎6例,总体终止妊娠率48. 28%。结论 产前Bo Bs技术对胎儿性染色体非整倍体异常、微缺失/微重复的产前诊断具有较高的临床效能,但对嵌合型性染色体异常有所不足,需与核型分析及基因芯片联用,以便准确指导孕妇妊娠选择。Objective To explore the clinical efficacy of prenatal BoBs technology in prenatal diagnosis of sex chromosome abnormalities.Methods A total of 4691 pregnant women who underwent amniocentesis at the Prenatal Diagnosis Center of Jiaxing Maternal and Child Health Care Hospital were selected from July 2014 to December 2019.Prenatal BoBs and G-band karyotype analysis were used to diagnose the cases.If the BoBs test results indicate a case of microdeletion/microduplication,then SNP-array gene chip test is performed to further confirm the diagnosis.During the whole period,the pregnancy of pregnant women was recorded.Results A total of 4686 cases of prenatal BoBs were detected successfully,and 55 cases of sex chromosome abnormalities were detected,of which 32 cases were sex chromosomal aneuploidies,consistent with karyotype analysis results;in 23 cases of microdeletions/microduplications,17 cases were verified by gene chip,and the results were consistent.In addition,7 cases of BoBs missed abnormalities were detected by karyotype analysis.The prenatal BoBs technology and reference method(karyotype analysis+gene chip)showed good consistency(Kappa=0.901),and there was no statistical difference(P=0.549).The combined application of prenatal BoBs technology,chromosome karyotype analysis and SNP-array gene chip finally confirmed 58 cases of sex chromosome abnormality,28 cases of pregnancy termination,24 cases of live births,6 cases of stillbirths,and the overall pregnancy termination rate was 48.28%.Conclusion BoBs technology has high clinical efficacy in the prenatal diagnosis of fetal sex chromosome aneuploidy and microdeletion/microduplication,but it is insufficient for mosaic sex chromosome abnormalities,and requires karyotype analysis and gene chip in combination to accurately guide pregnant women to choose pregnancy.

关 键 词：产前诊断 细菌人工染色体微珠技术 染色体核型分析 性染色体非整倍体 性染色体畸变 

分 类 号：R714.5[医药卫生—妇产科学]