364例孕早中期自然流产组织单核苷酸多态性微阵列分析

doi:10.6040/j.issn.1671-7554.0.2022.0398

摘要/Abstract

摘要： 目的探讨单核苷酸多态性微阵列分析技术在早中孕期自然流产中的应用。方法选取364例自然流产组织为研究对象,应用单核苷酸多态性微阵列分析技术回顾分析导致自然流产的染色体异常分布。分别按孕周、年龄、流产组织性别分组:孕6~12周组(n=300),孕13~28周组(n=64);孕妇年龄<35岁组(n=292),≥35岁组(n=72);男性组(n=147),女性组(n=217)。比较各组各类染色体异常发生率。结果在364例自然流产组织中,检出染色体异常 191例(52.47%)分别为:染色体数目异常177例;致病性染色体微重复微缺失11例;全染色体单亲二倍体3例,病理均为葡萄胎,来自父亲。孕6~12周组染色体数目异常发生率(55.33%)、三体发生率(37.00%)、单体发生率(8.33%)、三倍体发生率(6.00%)与孕6~12周组染色体数目异常发生率(17.19%)、三体发生率(9.38%)、单体发生率(3.13%)、三倍体发生率(0%)比较差异均有统计学意义(P<0.001;P<0.001;P=0.030;P=0.004)。孕13~28周仅检出18三体、21三体、45,XO及嵌合体共13例,占染色体数目异常7.34%(13/177)。孕妇年龄≥35岁组染色体数目异常发生率(63.88%)、三体发生率(51.39%)与<35岁组染色体数目异常发生率(44.86%)、三体发生率(27.40%)比较差异有统计学意义(P=0.048;P=0.005)。男性组与女性组染色体差异率比较差异无统计学意义(P=0.562)。结论孕早期、高龄孕妇自然流产组织染色体数目异常率更高;染色体异常是自然流产的主要原因;应用单核苷酸多态性微阵列分析技术能够检出其他方法无法检出的单亲二倍体。

关键词: 自然流产, 单核苷酸多态性微阵列, 染色体, 单亲二倍体

Abstract: Objective To investigate the application of single nucleotide polymorphism microarray(SNP array)in spontaneous abortion in early and middle pregnancy. Methods A total of 364 cases of spontaneous abortion were selected, and the distribution of chromosomal abnormalities leading to spontaneous abortion were analyzed with SNP array. The patients were divided into groups according to the gestational weeks, pregnant age and sex of abortion tissue, including gestational 6-12 weeks group(n=300)and gestational 13-28 weeks group(n=64); under 35 years old group(n=292)and over 35 years old group(n=72); male group(n=147), and female group(n=217). Results Of all 364 cases, 191(52.47%)presented chromosomal abnormalities, including 177 cases of abnormal chromosome number, 11 cases of microdeletion/microduplication, 3 cases of whole chromosome uniparental disomy(pathology revealed hydatidiform moles, paternal). In the gestational 6-12 weeks group, there were 55.33% cases with abnormal chromosome number, 37.00% with trisomy, 8.33% with monosomy, and 6.00% with triploid. In the gestational 13-28 weeks group, there were 17.19% cases with abnormal chromosome number, 9.38% with trisomy, 3.13% with monosomy, and 0% with triploid. There were significant differences between the two groups(P<0.001; P<0.001; P=0.030; P=0.004). In the over 35 years old group, there were 63.88% cases with abnormal chromosome number, and 51.39% with trisomy. In the under 35 years old group, there were 44.86% with abnormal chromosome number, and 27.40% with trisomy. The abnormal rate was significantly higher in the over 35 years group(P=0.048; P=0.005). However, there was no significant difference in the number of chromosome aberration between male and female abortion tissue(P=0.562). Conclusion The rate of chromosomal abnormality is higher in early pregnancy and women with advanced age. Chromosomal abnormality is the main cause of spontaneous abortion. The application of SNP array can detect uniparental diploid that cannot be detected by other methods.

Key words: Spontaneous abortion, Single nucleotide polymorphism microarray analysis, Chromosome, Uniparental diploid

中图分类号:

R714.21

高青,鲁婷,单珊,陶靖,金华. 364例孕早中期自然流产组织单核苷酸多态性微阵列分析[J]. 山东大学学报 (医学版), 2022, 60(10): 68-73.

GAO Qing, LU Ting, SHAN Shan, TAO jing, JIN Hua. Single nucleotide polymorphism microarray analysis of 364 cases of spontaneous abortion during early and middle pregnancy[J]. Journal of Shandong University (Health Sciences), 2022, 60(10): 68-73.

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