文章摘要
张羽,刘琰,李兰兰,等.稽留流产绒毛染色体通量测序技术检测 235例结果分析[J].安徽医药,2022,26(1):73-76.
稽留流产绒毛染色体通量测序技术检测 235例结果分析
Chromosome analysis on chorionic villus samples from missed abortions in 235 cases by next-generation sequencing
  
DOI:10.3969/j.issn.1009-6469.2022.01.017
中文关键词: 流产,稽留  多位点测序分型  高通量核苷酸序列分析  绒毛  染色体异常
英文关键词: Abortion, missed  Multilocus sequence typing  High-throughput nucleotide sequencing  Villus  Chromosome ab-normalities
基金项目:陕西省卫生计生科研基金项目( 2016D076)
作者单位E-mail
张羽 西北妇女儿童医院生殖妇科陕西西安 710000  
刘琰 西北妇女儿童医院生殖妇科陕西西安 710000  
李兰兰 西北妇女儿童医院生殖妇科陕西西安 710000  
李丽 延安大学附属医院产科陕西延安 716000 51983217@qq.com 
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中文摘要:
      目的探究染色体异常类型与年龄、妊娠方式及既往流产次数之间的关系。方法回顾性分析 2018年 8月至 2019年 8月西北妇女儿童医院因稽留流产行高通量测序技术检测绒毛染色体的病人 235例,对其结果进行细分比较、统计分析。结
英文摘要:
      Objective To explore the relationship between chromosome abnormalities and age, pregnancy mode and previous abor-tion times.Methods A retrospective analysis was performed on 235 patients with villous chromosomes detected by high-throughput se-quencing technology in Northwest Women and Children's Hospital from August 2018 to August 2019, and the results were subdivided,compared and statistically analyzed. Results One hundred and sixty-five (70.21 % ) with abnormal chromosomes were identifiedamong 235 samples. Among them, the chromosome number abnormality accounted for 50.2% (118/235), and trisomy accounted for46.7% (77/118), and trisomy 16 was the most common..Among the structural chromosome abnormalities, the CNVs of known pathoge-nicity were higher than that of unknown pathogenicity and polymorphism. The average age of normal chromosome group (30.19±3.62)was lower than that of abnormal chromosome group (32.08±4.52) (t=-3.11, P<0.05). An increase in the frequency of chromosomally ab-normal miscarriages was observed in the group of women above 35 (83.92%) when compared to groups of women under 35(65.92%) (χ2= 6.61,P < 0.05), and maternal age of multiple aneuploidies was significant higher than that of trisomies. No difference in frequencies ofchromosomal abnormalities in CVSs of the different conception way and reproductive history was observed.Conclusions Chromosom-al abnormality is the main cause of early abortion. Age is an important factor affecting the chromosome while the mode of pregnancyand the number of previous abortions are not. NGS can significantly increase the detection rate of chromosomal abnormalities, providemore accurate theoretical basis for the cause of missed abortion, and then give a better guide for the next pregnancy.
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