The Analysis Of Assisted Reproductive Treatment Of Infertile Males With Chromosomal Mosaicism Or Chimerism

Background:Chromosomal chimerism or mosaicism is defined as the presence of two or more chromosomally distinct karyotypes within an individual.The prevalence of human chromosomal mosaicism or chimerism varies greatly at different stages throughout life,and the incidence rate of chromosome mosaicism in adult is relatively low.As Preimplantation genetic testing(PGT)being increasingly used in assisted reproduction treatment for infertile spouses,the debate about whether different groups of people can benefit from PGT becomes increasingly heated.Whether carriers of chromosomal mosaicism,which is also a type of chromosomal abnormality,can benefit from PGT is still under discussion.Objectives:Firstly,to explore whether infertile males with chromosomal chimerism or mosaicism can benefit from PGT.Secondly,try to find the factors affecting the euploidy rate and aneuploidy rate of embryos.Methods:The clinical data of infertile males with chromosomal chimerism and mosaicism who visited the Reproductive Hospital afflicted to Shandong University from June 2013 to September 2021 were analyzed.According to the different ways of assisted reproductive treatments they accepted,the patients were divided into PGT group and control group who accepted in vitro fertilization(IVF)or intracytoplasmic sperm injection(ICSI)treatment.The general clinical data and pregnancy outcomes after the first embryo transfer were compared between the two groups.In addition,PGT test results of embryos were collected,and multiple factor Logisitic regression model was constructed to explore the factors affecting euploidy rate of embryos.Results:A total of 53 infertile males with chromosomal chimerism or mosaicism were included in this study,including 40 males accepted PGT and 13 males accepted IVF/ICSI.There was no statistically significant difference in general clinical data of these infertile males,including age,height,BMI,infertile years,infertile type,test of semen and serum sex hormone test between the two groups.Compared with the control group,the biochemical pregnancy rate(77.5%vs 38.46%)and live birth rate(62.5%vs 30.77%)in PGT group were higher,and the differences were statistically significant(P<0.05).There was no significant difference in clinical pregnancy rate and rate of abortion between two groups.A total of 133 embryos detected by Array Comparative Genomic hybridization(aCGH)or Next Generation sequencing(NGS)were included in this study.According to the test results,the embryos were divided into euploid,aneuploid and chimeric embryos.There was no significant difference in paternal age,maternal age and abnormal proportion of paternal chromosome chimerism or mosaicism among the three groups,but the types of chromosomal chimerism or mosaicism was different among the three groups(P<0.05).In order to explore the factors affecting the euploidy rate and aneuploidy rate of embryos,a multivariate Logisitic regression model was established,it was found that the male structural abnormality of the chimerism reduced the probability of embryo euploidy(OR=0.382,95%CI 0.171-0.850,P=0.018)and increased risk of embryo aneuploidy rate(OR=1.308,95%CI 1.659-8.239,P=0.001).Conclusion:Compared with control group,PGT can improve the live birth rate of single embryo transfer for infertile males with chromosomal chimerism and mosaicism.Compared with chromosomal chimerism or mosaicism of structural abnormalities,infertile males with chromosomal chimerism or mosaicism of aneuploidy have a lower risk of inheriting chromosomal abnormalities to their offspring and have higher likelihood to obtain euploidy embryos.