50例卵巢功能减退患者FMR1基因动态突变筛查结果及临床干预后妊娠结局分析  

Screening results of FMR1 gene dynamic mutation and pregnancy outcome after clinical intervention in 50 patients with ovarian dysfunction

作　　者：黄玲玲 梅利斌 黄嘉膂 左慧君 邢根宝 李萍[2] Huang Lingling;Mei Libin;Huang Jialyu;Zuo Huijun;Xing Genbao;Li Ping(Center for Reproductive Medicine,Jiangxi Maternal and Child Health Hospital,Nanchang University School of Medicine,Nanchang 330006,China;Department of Reproductive Medicine,Women and Children’s Hospital,School of Medicine,Xiamen University,Xiamen 361102,China)

机构地区：[1]江西省妇幼保健院,南昌大学附属妇女儿童医院辅助生殖中心,南昌330006 [2]厦门大学附属妇女儿童医院生殖医学中心,厦门361102

出　　处：《国际遗传学杂志》2022年第5期354-360,共7页International Journal of Genetics

基　　金：福建省医学创新课题(2018-CXB-29)。

摘　　要：目的分析50例卵巢功能减退患者FMR1基因动态突变筛查结果及临床干预后妊娠结局。方法选取2017年12月至2019年6月就诊于厦门大学附属妇女儿童医院卵巢功能减退患者50例,将入选患者分为3组,A组(卵巢储备功能减退,diminished ovarian reserve,DOR),B组(早发性卵巢功能不全,premature ovarian insufficiency,POI),C组(卵巢早衰,premature ovarian failure,POF)。运用FMR1基因动态突变检测技术,测定其CGG重复数,随访并分析其妊娠结局。结果本研究A组18例,B组10例,C组23例,最常见的CGG重复次数是30(17例,占34%),其次是29(14例,占28%)和36(13例,占26%),前突变和灰区各检测到1例,无全突变,前突变总发生率为1/50。本研究50例卵巢功能减退患者中48例已婚者积极干预后7例成功妊娠(其中1例供卵助孕),妊娠率达12.5%。结论卵巢功能减退患者FMR1基因前突变发生率高,早期进行临床干预后可提高其妊娠机率。本研究将为卵巢功能减退患者孕前遗传咨询和生育提供理论参考和指导建议。Objective To analyze the results of FMR1 gene dynamic mutation screening and pregnancy outcome after clinical intervention in 50 patients with ovarian dysfunction.Methods 50 patients with ovarian insufficiency who were treated in the women’s and children’s Hospital Affiliated to Xiamen University from December 2017 to June 2019 were selected.The selected patients were divided into three groups:group A(diminished ovarian reserve,DOR),group B(premature ovarian insufficiency,POI),and group C(premature ovarian failure,POF).Using FMR1 gene dynamic mutation detection technology to measure the number of CGG repeats and follow up and analyz the pregnancy outcomes.Results There were 18 cases in group A,10 cases in group B and 23 cases in group C.The most common CGG repetition times were 30(17 cases,accounting for 34%),followed by 29(14 cases,accounting for 28%)and 36(13 cases,accounting for 26%).One case of pre-mutation and one case of gray area were detected respectively.There was no complete mutation.The total incidence of pre-mutation was 1/50.Among the 50 patients with ovarian dysfunction in this study,48 married people had successful pregnancy after active intervention(including one egg donor assisted pregnancy),and the pregnancy rate was 12.5%.Conclusion The incidence of FMR1 gene pre-mutation in patients with ovarian dysfunction is high,and early clinical intervention can improve their pregnancy probability.This study will provide theoretical reference and guidance for genetic counseling and fertility of patients with ovarian dysfunction before pregnancy.

关 键 词：卵巢功能减退 FMR1 遗传咨询 

分 类 号：R711.75[医药卫生—妇产科学]