孕前扩展性携带者筛查在中国汉族育龄人群中的应用价值  

Application value of preconception expanded carrier screening in Chinese Han population of childbearing age

作　　者：谭丽[1] 赵培娟 齐越凡 程兰兰 禹果[1] 赵冬梅[1] 宋玉霞[1] 项云改[1] 梁雪琪 彭默然 Tan Li;Zhao Peijuan;Qi Yuefan;Cheng Lanlan;Yu Guo;Zhao Dongmei;Song Yuxia;Xiang Yungai;Liang Xueqi;Peng Moran(Reproduction Medical Center of the Second Affiliated Hospital of Zhengzhou University,Zhengzhou 450014,China;Pingdingshan Maternal and Child Health Hospital in Henan Province,Center for Reproductive,Pingdingshan 467000,China;Medical Imaging Department of the Second Affiliated Hospital of Zhengzhou University,Zhengzhou 450014,China)

机构地区：[1]郑州大学第二附属医院生殖医学中心,郑州450014 [2]河南省平顶山市妇幼保健院生殖中心,平顶山467000 [3]郑州大学第二附属医院医学影像科,郑州450014

出　　处：《中华生殖与避孕杂志》2023年第7期713-717,共5页Chinese Journal of Reproduction and Contraception

基　　金：吴阶平医学基金会临床科研专项资助基金(320.6750.18558(9))。

摘　　要：目的探讨孕前扩展性携带者筛查(preconception expanded carrier screening,PECS)在中国汉族育龄人群中的临床应用价值。方法回顾性研究2019年9月至2022年5月期间于郑州大学第二附属医院生殖医学中心采用序贯筛查模式进行PECS的不孕不育夫妇的基因检测结果,对单基因病致病基因携带率、高危夫妇携带率及高危夫妇的临床结局进行统计和分析。结果共有1565例患者接受PECS,均为汉族人群,其中接受扩展型108种单基因病检测的女性患者420例,男性患者84例,目标基因总体携带率为30.75%(129/420)。检出1对高危夫妇,携带率为1.19%(1/84),检测基因中携带率较高的分别是MMACHC[2.58%(13/504)]、ATP7B[(2.38%(12/504)]、SLC22A5[2.18%(11/504)]、GALC[1.79%(9/504)]、PAH[1.79%(9/504)]、MLC1[1.19%(6/504)],余下均不足1%。接受脆性X综合征FMR1基因检测的患者共555例,FMR1基因突变5例,占0.90%,对全突变患者直系亲属进行检测,其母亲为前突变携带者(CGG重复数为105)。接受脊髓型肌萎缩症SMN1基因携带者筛查的患者共502例,女性阳性携带者14例,男性阳性携带者2例,总体携带率为3.19%。结论单基因隐性遗传病在人群中携带率较高,孕前进行筛查可以为患者提供优生优育指导,选择胚胎植入前单基因遗传学检测(preimplantation genetic testing for monogenic/single gene disorders,PGT-M)和产前诊断,可避免患儿的出生。Objective To explore the clinical value of preconception expanded carrier screening(PECS)in Chinese Han population of childbearing age.Methods The gene detection results of infertile couples with PECS in the Reproductive Medicine Center of the Second Affiliated Hospital of Zhengzhou University from September 2019 to May 2022 were analyzed retrospectively.The carrier rate of pathogenic gene,the detection rate of high-risk couples and the clinical outcome of high-risk couples were counted and analyzed.Results A total of 1565 patients received PECS and they were all Chinese Han.A total of 504 patients received the 108 extended monogenic diseases testing,including 420 females and 84 males,the overall carrier rate of the target genes was 30.75%(129/420),and the detection rate of high-risk couples was 1.19%(1/84),the higher carrier rates of the tested genes were MMACHC[2.58%(13/504)],ATP7B[2.38%(12/504)],SLC22A5[2.18%(11/504)],GALC[1.79%(9/504)],PAH[1.79%(9/504)]and MLC1[1.19%(6/504)],the rest are less than 1%.There were 555 patients accepted FMR1 gene detection,and 5 patients with FMR1 gene mutation,accounting for 0.90%.Testing for direct relatives of patients with complete mutations,her mother is a pre mutation carrier with a CGG repeat count of 105.A total of 502 patients accepted SMN1 gene testing.Totally 14 femals and 2 males were found to be SMN1 gene carriers in this study,with a carrier rate of 3.19%.Conclusion The carryier rate of single gene recessive disorder is high in the population.Screening before pregnancy can provide birth health guidance for patients,help them to choose preimplantation genetic testing for monogenic/single gene disorders(PGT-M)and prenatal diagnosis,to avoid the birth of silk children.

关 键 词：产前诊断 携带者筛查 胚胎植入前单基因遗传学检测 

分 类 号：R711.6[医药卫生—妇产科学] R440[医药卫生—临床医学]