目的 应用单核苷酸多态性阵列(SNParray)技术,传统称为基因芯片,检测稽留流产物染色体异常情况,探讨其在稽留流产遗传学病因中的应用.方法 SNP array检测432例稽留流产孕妇流产物组织染色体(≤12周归类为早期稽留流产,12～28周归类为晚期稽留流产),统计流产物染色体异常的不同分类和占比.结果 432例稽留流产中,染色体异常259例,异常率达到59.95％.且染色体异常率在不同稽留流产孕周中存在显著性差异(P＜0.05),以孕10～11周最高,并向两侧呈逐渐下降趋势;早期流产染色体的异常率为62.12％,明显高于晚期流产(P=0.002).染色体异常中获得性变异共218例,比例为84.17％,缺失性变异共计30例,占比11.58％,其余11例为混合型变异,占比4.25％.获得性变异包括染色体三体169例,占比77.52％;三倍体40例,占比18.35％;DNA片段重复9例,占比4.13％.21、16、22号染色体三体在三体中较为常见,频数分别为18、40和22.缺失性变异包括染色体单体22例,占比73.33％;DNA片段缺失8例,占比26.67％.缺失性变异中染色体单体最常见的X染色体缺失,频数为20,占90.91％.染色体数目异常最为常见,共计231例(89.19％);其余为染色体结构异常.结论 通过基因芯片技术检测流产物的染色体异常状况,对明确稽留流产病因有显著的效果,为优生优育的遗传咨询提供了积极的指导.
Epidemiological characteristics and chromosomal abnormalities by gene microarray of 432 cases of abortions
Objective To explore the application of single nucleotide polymorphism(SNP)array(also known as gene microarray)by detecting the chromosomal abnormalities of aborted fetal tissue.Methods 432 abortions(early missed abortion≤ 12 weeks,late missed abortion 12-28 weeks)were subjected to SNP array detection,the type and proportion of chromoso-mal abnormalities were further analyzed.Results 259 had chromosome abnormalities across 432 missed abortions(59.95％).There was a significant difference(P＜0.05)between different gestational weeks and missed miscarriage,which was most likely occurred between 10-11 weeks of pregnancy and gradually descended towards both sides.The abnormal detectable rate in early missed miscarriage was 62.12％,significantly higher than that in late missed miscarriage(P=0.002).A total of 218 cases were diagnosed as duplicated variations(84.17％);30 cases carried deletion variants(11.58％),and the remaining 11 cases carried both duplications and deletions(4.25％).Trisomy(n=169,77.52％)was the most common chromosomal abnor-mality across all of duplication cases.In addition,40 cases were diagnosed as triploid(18.35％),and 9 cases harbored micro-duplicated copy number variations(CNVs)(4.13％).Trisomy 21(n=18),16(n=40),22(n=22)were the most common trisomy occurred in our study.22 monosomes were found included in all deletion cases(73.33％),in which there were also 8 cases carrying microdeletions(26.67％).Monosomy X was revealed to be the most common chromosomal deletion variations(n=20,90.91％).Taken together,231 cases were exhibited with numerical abnormalities,and the remaining belong to chromosomal structural abnormalities.Conclusion Chromosome microarray could detect chromosomal abnormalities of abortions,facilitate discovering the genetic etiology of missed abortion,and provide positive guidance for genetic counseling of eugenics and procreation.
basic and clinicalpathologic pregnancymissed abortiongene microarraychromosome abnormality
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