中国妇幼健康研究2026，Vol.37Issue(4)：28-33,6.DOI:10.3969/j.issn.1673-5293.2026.04.004
CNVplex联合STR检测技术在自然流产患者流产物中的应用
Application of CNVplex combined with STR detection in products of conception from patients with spontaneous abortion
摘要
Abstract
Objective To evaluate the application value of high-throughput ligation-dependent probe amplification(CNVplex)combined with short tandem repeat(STR)analysis in identifying genetic factors in products of conception(POC)from patients with spontaneous abortion(SA).Methods A total of 970 patients with spontaneous abortion who met the inclusion criteria between January 2021 and December 2024 were enrolled.Products of conception were collected for CNVplex and STR analyses.Chromosomal abnormalities were analyzed according to gestational stage and maternal age.Results Among the 970 POC samples,chromosomal numerical or structural abnormalities were detected in 575 cases,with a detection rate of 59.28%(575/970).Among 873 cases of early spontaneous abortion,the detection rate of chromosomal abnormalities was 60.82%(531/873).The most common abnormalities were aneuploidy(77.97%)and triploidy(16.57%),followed by structural abnormalities(4.52%),mosaicism(0.75%),and whole-genome uniparental disomy(UPD)(0.38%).Among aneuploidies,trisomy 16(24.40%),trisomy 22(19.57%),and monosomy X(12.56%)were the most frequent.Among 97 cases of mid-trimester spontaneous abortion,the overall abnormality detection rate was 45.36%(44/97),including aneuploidy(86.36%)and triploidy(13.64%)only.The most common aneuploidies were monosomy X(34.21%),trisomy 16(15.79%),trisomy 21(13.16%),and trisomy 22(7.89%).The overall chromosomal abnormality detection rate in early spontaneous abortion(60.82%,531/873)was significantly higher than that in mid-trimester spontaneous abortion(45.36%,44/97)(χ2=8.648,P<0.05).The detection rate of monosomy X was significantly higher in mid-trimester POC(13.40%,13/97)than in early POC(5.96%,52/873)(χ2=7.741,P<0.05).Among 801 patients aged<35 years,the chromosomal abnormality detection rate was 56.80%(455/801),whereas among 169 patients aged≥35 years,the rate was 71.01%(120/169).Compared with patients<35 years,those≥35 years had a significantly higher detection rate of chromosomal abnormalities(χ2=11.661,P<0.05).Conclusion The combination of CNVplex and STR detection is useful for analyzing chromosomal abnormalities in POC from patients with spontaneous abortion,facilitating evaluation of recurrence risk and providing a genetic basis for precise reproductive genetic counseling and fertility planning.关键词
高通量连接探针技术/短串联重复序列/自然流产/流产物/染色体异常Key words
CNVplex/short tandem repeat/spontaneou abortion/apoblema/chromosomal abnormality分类
医药卫生引用本文复制引用
易丹英,叶梦玲,邓琴,陈希敏,黄玉莲,秦胜芳,陈春,汪雪雁,宋筱..CNVplex联合STR检测技术在自然流产患者流产物中的应用[J].中国妇幼健康研究,2026,37(4):28-33,6.基金项目
成都医学院临床科学研究基金项目(24LHFYSZ1-21) （24LHFYSZ1-21）
