Screening The Results Of Genetic Mutation And Following Up Pregnancy Outcomes After Clinical Intervention Of 50 Patients With Ovarian Aging

Objective:Ovarian aging is one of the most common reproductive endocrine diseases,causing infertility in women of childbearing age,with genetic factors accounting for 20～25%.This study attempts to reveal genes mutations related to ovarian aging,so as to provide theoretical basis for guiding strategies to improve clinical fertility prognosis.Methods:Analyzing the gene defects of 50 patients with unknown ovarian aging combined with FMR1 gene dynamic mutation detection and high-throughput sequencing technology.In clinical practice,Using the method of sequential treatment with estrogen-progestin,Ovulation induction,ultrasonic monitoring and then direct the time of coital or in vitro fertilization-embryo transfer(IVF-ET),following-up their pregnancy outcome.Results:In this research,we found 8 gene mutations related to ovarian aging in 18 of 50 patients with ovarian aging,there was 1 mutation of FMR1 gene(CGG repeat number 37/82),PSMC31P,FSHR,FOXL2 and LHCGR gene respectly.A total of 14 new mutation sites were identified.After clinicai intervention,6 of the 48 married patients with ovarian aging got pregnant successfully,with a pregnancy rate of 12.5%.Conclusion:We identificd 8 gene mutations in 18 patients with unexplained ovarian aging,indicating that the occurrence of ovarian aging has a high degree of genetic heterogeneity.14 new mutation sites enriched the gene mutation spectrum of ovarian aging.Positive clinical intervention in patients with ovarian aging can improve the possiblity of pregnancy and provide theoretical reference and guidance for genetic counseling and fertility before pregnancy.