生殖医学杂志2025，Vol.34Issue(6)：757-765,9.DOI:10.3969/j.issn.1004-3845.2025.06.006
子宫内膜容受性检测对原发不孕伴反复种植失败且种植窗偏移患者的有效性研究及种植窗偏移遗传机制探索
Evaluation of endometrial receptivity in primary infertile patients with recurrent implantation failure and displaced window of implantation,and exploration of the genetic mechanisms of displaced window of implantation
摘要
Abstract
Objective:To evaluate the clinical application effect of tests for endometrial receptivity(tER)in primary infertile patients with repeated implantation failure(RIF)and a displaced implantation window,and to preliminary explore the possible genetic factors influencing the displaced implantation window through whole exome sequencing(WES). Methods:Patients with primary infertility and RIF who had a displaced implantation window and underwent tER at the Reproductive Medicine Center of the First Medical Center of the Chinese People's Liberation Army General Hospital from March 2019 to November 2024 were selected as the research subjects.The clinical outcomes(clinical pregnancy rate,miscarriage rate,and live birth rate)of the conventional embryo transfer cycles before tER and the individualized embryo transfer cycles guided by tER were compared through self-control.Peripheral blood DNA was collected from all research subjects for WES.Variants were filtered through quality control,frequency filtering,functional prediction,and public database search to screen for candidate genes possibly related to the displaced implantation window. Results:A total of 21 patients with primary infertility and RIF who were diagnosed with a displaced implantation window by tER were selected in this study,and 82 embryo transfer cycles at the Reproductive Medicine Center of the First Medical Center of the Chinese People's Liberation Army General Hospital were screened,including 44 conventional embryo transfer cycles before tER and 38 individualized embryo transfer cycles after tER.Compared with the conventional embryo transfer cycle group before tER,the clinical pregnancy rate and the live birth rate in the individualized embryo transfer cycle group guided by tER were significantly improved(31.58％vs.2.27％,P＜0.001 and 23.68％vs.0.00％,P=0.001).WES identified 4 candidate genes related to the displaced implantation window,and a total of 8 DNA variations were identified[ANOS1 gene:c.1464T＞G(p.Ile488Met)and c.764C＞T(p.Pro255Leu),ASH1L gene:c.3983A＞G(p.Tyr1328Cys)and c.1833G＞C(p.Leu611Phe),NPDC1 gene:c.857C＞T(p.Thr286Met)and c.485_486del(p.Pro162ArgfsTer50),A HNAK2 gene:c.5075T＞G(p.Val1692Gly)and c.5074G＞A(p.Va11692Met)]. Conclusions:Individualized embryo transfer based on tER results can improve the pregnancy outcomes of primary infertile patients with RIF and a displaced implantation window.The possible genetic background of such patients was preliminary revealed through WES,which is of positive significance for the future improvement of related databases.关键词
子宫内膜容受性检测/原发不孕/反复种植失败/种植窗/个体化胚胎移植/全外显子检测Key words
Tests for endometrial receptivity/Primary infertility/Recurrent implantation failure/Window of implantation/Personalized embryo transfer/Whole-exome sequencing分类
医药卫生引用本文复制引用
刘婷婷,李晓晗,方辉艳,彭红梅,董明理,高原,杨怡卓,穆莎,姜竹青,杨童焜,杨云菲,赵春草..子宫内膜容受性检测对原发不孕伴反复种植失败且种植窗偏移患者的有效性研究及种植窗偏移遗传机制探索[J].生殖医学杂志,2025,34(6):757-765,9.基金项目
2021年度军队高层次科技创新人才工程人选自主科研项目(联战[2022]151号) （联战[2022]151号）
