摘要
目的探讨低深度全基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)联合短串联重复序列(short tandem repeat,STR)分型技术在早期稽留流产组织遗传学分析中的应用价值,明确流产病因,为优生优育提供指导。方法选取2023年9月至2025年4月在汕头大学医学院附属粤北人民医院确诊的155例早期稽留流产患者,采用CNV-seq与STR分型技术对流产组织进行遗传学检测,分析染色体异常类型及其与流产次数的相关性。结果染色体异常检出率:155例样本中检出染色体异常89例(57.4%),其中数目异常67例(75.3%),包括非整倍体58例(以16-三体最常见)、三倍体4例及嵌合体5例;染色体结构异常(>5Mb)致病性1例(1.1%);微缺失/微重复21例(23.6%),其中致病性拷贝数变异(pathogenic copy number variation,pCNV)3例和临床意义不明拷贝数变异(variant of uncertain significance copy number variation,VUS-CNV)18例。流产次数:流产次数≥2次组与<2次组的胚胎染色体数目异常率(44.9%比43.7%)及拷贝数变异率(25.6%比28.6%)均无统计学差异(P>0.05)。结论染色体异常是早期稽留流产的主要遗传学病因。CNV-seq联合STR分型技术可全面解析流产组织的遗传学异常,为临床遗传咨询及再生育决策提供精准依据。
Objective To evaluate the application value of low-coverage whole-genome copy number variation sequencing(CNV-seq)combined with short tandem repeat(STR)genotyping in genetic analysis ofearly missed abortion tissues,aiming to elucidate the etiology of abortion and provide guidance for better birth outcomes.Methods A total of 155 patients with earlymissed abortion diagnosed at Yuebei People's Hospital Affiliated to Shantou University Medical College from September 2023 to April 2025 were enrolled.Genetic analysis of abortion tissues was performed using CNV-seq and STR genotyping to characterize chromosomal abnormalities and their correlations with abortion history.Results The overall detection rate of chromosomal abnormalities was 57.4%(89/155),including 67 cases(75.3%)of numerical abnormalities(58 aneuploidies with trisomy 16 being most prevalent,4 triploidies,and 5mosaics);One case(1.1%)of pathogenic chromosomal structural abnormality(>5 Mb);21 cases(23.6%)of microdeletion/microduplication(3 pathogenic CNVs and 18 variants of uncertain significance[VUS]).No significant differences were observed in either numerical(44.9%vs 43.7%)or copy number variation(25.6%vs 28.6%)rates between patients with≥2 previous abortions and those with<2abortions(both P>0.05).Conclusion Chromosomal abnormalities constitute the primary genetic etiology of early missed abortion.The combined CNV-seq and STR genotyping approach provides comprehensive genetic profiling of abortion tissues,offering precise guidance for clinical genetic counseling and reproductive decision-making.
作者
曾秋婷
范舒舒
刘玉兰
林震鸣
马占忠
Zeng Qiuting;Fan Shushu;Liu Yulan;Lin Zhenming;Ma Zhanzhong(Yuebei People's Hospital Affiliated to Shantou University Medical College,Shaoguan,Guangdong 512026,China;Department of Laboratory Medicine,The Affiliated Shunde Hospital of Jinan University,Foshan,Guangdong 528305,China)
出处
《中国产前诊断杂志(电子版)》
2025年第4期40-46,共7页
Chinese Journal of Prenatal Diagnosis(Electronic Version)
基金
广东省卫生健康适宜技术推广项目(202405201522156640)。
关键词
拷贝数变异测序
短串联重复序列
早期稽留流产
胚胎染色体异常
流产遗传学病因
Copy number variation sequencing(CNV-seq)
Short tandem repeat(STR)
Early missed abortion
Embryonic chromosomal abnormalities
Genetic etiology of abortion
