Evaluating the link between chromosomal abnormalities and diminished ovarian reserve, mode of conception, and history of prior miscarriages in cases of early missed abortion using CNV-seq

Author:

Huang Shuhui1,Chen Xiaoqing2,Liu Danping2,Yuan Huizheng2,Zou Yongyi2,Zeng Baitao2,Bai Guiqin1

Affiliation:

1. Xi'an Jiaotong University

2. Jiangxi Maternal and Child Health Hospital

Abstract

Abstract

Objective: This study was developed as a retrospective analysis of the rates of embryonic chromosomal abnormalities in cases of missed miscarriages during early pregnancy, with a focus on identifying associated factors as a means of clarifying the genetic basis for missed miscarriages and how this pregnancy outcome relates to a variety of clinical and demographic characteristics. Methods: The present study enrolled 1490 patients who had been diagnosed with missed miscarriage and underwent CNV-seq testing at the Jiangxi Maternal and Child Health Hospital from January 2020 through December 2022. Medical records were accessed to obtain clinical data pertaining to these miscarriage cases, and the results of chromosomal abnormality testing were analyzed. Results: Chromosomal abnormalities were detected in 63.76% of all missed miscarriages, and included instances of autosomal trisomy (68.38%), triploidy/polyploidy (11.68%), 45XO (10.84%), CNVs (8.84%), double/multiple trisomy (4.32%), sex chromosome trisomy/polyploidy (0.32%), and complex abnormalities (2.95%). An examination of the relationship between these chromosomal abnormalities and clinical characteristics revealed that chromosomal abnormality incidence rates were significantly related to maternal age, mode of conception, AMH levels, and the presence or absence of an embryonic/fetal heartbeat. Advanced maternal age, mode of conception, and lower AMH levels were associated with a greater risk of embryonic chromosomal abnormalities. Specifically, the rates of autosomal trisomy gradually rose with maternal age (P<0.05), whereas 45XO, CNVs, and triploidy/polyploidy detection rates declined with age (P<0.05). Declining ovarian reserve function was associated with higher rates of karyotypic abnormalities (P<0.05). Higher rates of karyotypic abnormalities were also evident in the natural conception (NC) group, as were rates of CNVs and trisomy/polyploidy (P < 0.01), whereas higher rates of autosomal trisomy were detected in the assisted reproductive technology (ART) group. No relationship between a history of spontaneous miscarriages and the incidence of embryonic chromosomal abnormalities was detected. Conclusion: Embryonic chromosomal abnormalities are the leading cause of early missed miscarriages. The present results indicate that advanced maternal age, declining ovarian reserve function, and mode of conception can all increase the risk of these chromosomal abnormalities. Age and the presence of a fetal/embryonic heartbeat may be related to the incidence of different types of chromosomal abnormalities, while a history of prior missed miscarriages is not related to the odds of embryonic chromosomal abnormalities.

Publisher

Springer Science and Business Media LLC

Reference47 articles.

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3