IVF/ICSI-ET术后早期妊娠丢失患者绒毛组织拷贝数变异异常的高危因素分析OACSTPCD
Analysis of risk factors for abnormal copy number variation of villus tissue of patients with early pregnancy loss after IVF/ICSI-ET
目的 探讨体外受精(IVF)/卵胞浆内单精子注射(ICSI)后行新鲜胚胎移植(ET)的早期妊娠丢失(EPL)患者绒毛组织拷贝数变异(CNV)异常的高危因素,为遗传咨询提供依据.方法 采用回顾性队列研究,选择2020年6月至2022年12月就诊宁夏医科大学总医院生殖医学中心接受IVF/ICSI助孕新鲜胚胎移植后EPL患者中绒毛组织CNV结果异常的周期作为病例组(n=29),随机抽选同期IVF/ICSI-ET术后正常活产的周期作为对照组(n=60).比较两组患者的一般资料、临床及实验室指标,并对病例组流产绒毛组织CNV异常的构成及占比进行分析讨论.结果 (1)病例组年龄[(33.45±3.78)岁]及自然流产次数[(0.41±0.73)次]显著高于对照组[分别为(29.52±4.27)岁、(0.05±0.22)次](P＜0.05),抗苗勒管激素(AMH)水平显著低于对照组[(2.49±2.05)ng/ml vs.(4.03±2.67)ng/ml,P＜0.05];(2)病例组促性腺激素(Gn)启动日 FSH 水平[(6.63±6.31)U/L]、Gn 启动日 LH 水平[(2.28±1.85)U/L]、HCG日LH 水平[(3.05± 3.28)U/L]显著高于对照组[分别为(3.10±2.13)U/L、(1.26±0.79)U/L、(1.27±1.14)U/L](P＜0.05);(3)病例组患者绒毛组织拷贝数变异测序(CNV-seq)结果中染色体数目异常占比72.41％、结构异常占比27.59％;常染色体三体占比55.17％,其中16-三体和22-三体最常见(分别占比17.24％、10.34％).结论 高龄、卵巢储备功能下降可能是导致EPL患者胚胎染色体核型异常的主要因素.
Objective:To investigate the risk factors of abnormal villus copy number variation(CNV)in patients with early pregnancy loss(EPL)who underwent fresh IVF/ICSI-ET,in order to provide the basis for genetic counseling. Methods:A retrospective cohort study was used to select the IVF/ICSI patients with abnormal CNV results of EPL villus tissue in Reproductive Medicine Center,General Hospital of Ningxia Medical University from June 2020 to December 2022 as the case group(n=29).The patients with normal live birth during the same period were randomly selected as normal control group(n=60).The general data,clinical and laboratory indexes of the two groups were compared,and the composition and proportion of abnormal CNV in aborted villi tissue of the case group were analyzed and discussed. Results:The age[(33.45±3.78)years vs.(29.52±4.27)years]and spontaneous abortion times[(0.41±0.73)vs.(0.05±0.22)]in case group were significantly higher than those in the control group(P＜0.05).Anti-Mullerian hormone(AMH)level in case group was significantly lower than that of control group[(2.49±2.05)ng/ml vs.(4.03±2.67)ng/ml](P＜0.05).The FSH level[(6.63± 6.31)U/L vs.(3.10±2.13)U/L]and LH level[(2.28±1.85)U/L vs.(1.26±0.79)U/L]on gonadotropin(Gn)initiation day,LH level on HCG day[(3.05±3.28)U/L vs.(1.27±1.14)U/L]in the case group were significantly higher than those control group(P＜0.05).In the CNV-sequence results of the villi tissues of the case group,chromosome number abnormalities accounted for 72.41％,structural abnormalities accounted for 27.59％.Autosomal trisomy accounted for 55.17％,among which trisomy16 and trisomy 22 were the most common(17.24％ and 10.34％,respectively). Conclusions:Advanced age and decreased ovarian reserve function may be the main factors leading to abnormal chromosome karyotype of embryos in patients with early pregnancy loss.
黄蕾;何蕊;许晓雪;闫慧;赵君利;哈灵侠;刘春莲
宁夏医科大学总医院生殖医学中心,银川 750004||宁夏医科大学,银川 750004
临床医学
IVF/ICSI绒毛染色体拷贝数变异非整倍体
IVF/ICSIVillous chromosomeCopy number variationAneuploidy
《生殖医学杂志》 2024 (001)
29-34 / 6
宁夏回族自治区自然科学基金立项项目(2023AAC03599)
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