Analysis of assisted reproduction outcomes for infertility patients with multiple morphological abnormalities of the sperm flagella caused by DNAH1 gene mutation
10.3760/cma.j.cn101441-20210202-00059
- VernacularTitle:DNAH1基因突变引起精子鞭毛多发形态异常的不育患者辅助生殖助孕结局分析
- Author:
Ke FENG
1
;
Xiaowei QU
1
;
Yanqing XIA
1
;
Feng WAN
1
;
Xue WANG
1
;
Yuanhui CHEN
1
;
Cuilian ZHANG
1
;
Haibin GUO
1
Author Information
1. 河南省人民医院生殖中心 郑州大学人民医院 河南省生殖医学工程国际联合实验室，郑州 450003
- Publication Type:Journal Article
- Keywords:
Infertility, male;
Teratozoospermia;
Sperm injections, intracytoplasmic;
Mutation;
Multiple morphological abnormalities of the sperm flagella;
Whole-exome
- From:
Chinese Journal of Reproduction and Contraception
2023;43(2):198-203
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical outcomes of infertility patients with multiple morphological abnormalities of the sperm flagella (MMAF) caused by DNAH1 gene mutation after intracytoplasmic sperm injection (ICSI). Methods:A retrospective cohort study analyzed the clinical data and genetic test results of 39 MMAF infertility patients who were treated in the Center for Reproductive Medicine of Henan Provincial People's Hospital from February 2018 to January 2020. Twelve MMAF patients caused by DNAH1 mutations were acted as DNAH1 positive group and 27 MMAF patients with no DNAH1 mutations were acted as DNAH1 negative group. Totally 100 cases of infertility patients with normal sperm morphology and their spouses who were age-matched by both men and women for ICSI during the same period were selected as control group. The outcomes of assisted pregnancy treatment in the three groups were analyzed. Results:All 39 MMAF patients underwent whole-exome sequencing. Among them, 12 patients had DNAH1 gene mutations, 10 cases of compound heterozygous mutations and 2 cases of homozygous mutations, and the other 27 cases were not detected the currently known DNAH1 mutations. The patients of three groups were treated with ICSI, and the differences in the number of oocytes obtained and the number of M II oocytes in the DNAH1 gene positive group, DNAH1 gene negative group and control group were statistically significant (17.08±5.32, 9.59±3.98, 10.44±6.33, P=0.001; 14.58±5.18, 6.78±3.38, 8.32±5.31, P<0.001). There were no statistically significant differences in the embryo implantation rate, the clinical pregnancy rate, the embryo miscarriage rate and the live birth rate (all P>0.05). Among them, 12 couples of male infertility caused by DNAH1 mutation received a total of 12 cycles of oocyte extraction, forming 79 day 3 embryos, 12 times of the first fresh or frozen embryo transplantation, and 10 biological offspring were obtained. Conclusion:For patients with MMAF caused by DNAH1 gene mutation, ICSI can help them to give birth to their own offspring, and has a higher clinical pregnancy rate and live birth rate.
