摘要
目的探讨早期自然流产(SA)胚胎中染色体数目异常的发生率及其与孕妇年龄的关系。方法利用荧光原位杂交(FISH)技术对357例早期自然流产胚胎进行染色体数目的检测,并分析早期自然流产中染色体数目异常与孕妇年龄,妊娠周数及流产次数之间的相关性。结果在所检测流产胚胎组织样本中有184例胚胎存在染色体数目异常,异常发生率为51.54%(184/357)。多数是常染色体三体数目异常,其中常染色体三体中以16号染色体的三体最为常见。染色体非整倍体的发生率随着孕妇年龄的增加而升高,且在不同年龄段之间的差异具有统计学意义(P<0.05);而不同流产次数以及流产胎儿的孕周(大于或小于10w)与染色体数目异常之间没有显著的相关性(P>0.05)。结论染色体数目异常是导致胚胎早期自然流产最主要的原因,非整倍体尤其是常染色体三体是最常见的异常核型,且随着孕妇年龄的增加染色体数目异常的风险显著升高。
Objective:To determine the incidence of chromosomal abnormalities in first-trimester spontaneous abortion,and to explore the relationship between aneuploidy and maternal age.Methods:A total of 537 patients underwent spontaneous abortion during the first-trimester were recruited in the study.The villi samples were detected using fluorescence in situ hybridization.Correlation analyses were performed between chromosomal abnormalities rates and maternal age,gestational weeks,and history of spontaneous abortion.Results:Among the 357 cases,184 cases were found with chromosomal numerical aberrations and the overall incidence was 51.54%(184/357).The most prevalent abnormality was autosomal trisomy and the most common trisomy was chromosomes 16.The detection rate of chromosome abnormalities was increased with maternal age,and the difference was significantly between the groups(P<0.05);the chromosomal abnormalities rate in different gestational weeks and abortive times were comparable among each group(P>0.05).Conclusion:Fetal chromosomal abnormality is the most important reason for spontaneous abortion in the first-trimester,and aneuploidy is the major abnormal karyotypes,especially for autosomal trisomy.The maternal age is a risk factor for spontaneous abortion.
作者
朱元昌
朱正锴
袁琳
代素
曾咏梅
邓伟芬
ZHU Yuan-chang;ZHU Zheng-kai;YUAN Lin;DAI Su;ZENG Yong-mei;DENG Wei-fen(Shenzhen Hengsheng hospital,Shenzhen,Guangdong;Huadong sanatorium,Wuxi,Jiangsu,214065)
出处
《中国优生与遗传杂志》
2020年第7期823-825,852,共4页
Chinese Journal of Birth Health & Heredity
基金
中华医学会临床医学科研专项资金(18010130742)
国家自然科学(地区)基金(82060281)
关键词
自然流产
荧光原位杂交
染色体异常
非整倍体
Spontaneous abortion
Fluorescence in situ hybridization
Chromosomal abnormalities
Aneuploidy
