| Background:Infertility is a condition in which a couple has been together for more than one year without any contraception,has normal sex but is unable to get pregenant.Chromosome variation is an important factor leading to infertility.Chromosome variation will lead to genetic changes,and genes determine different human characteristics and phenotypes.So chromosome variation will affect the normal function of the body,leading to diseases.Chromosomal variation can be mainly divided into chromosomal aberration and chromosomal polymorphism.Chromosomal structural aberration mainly includes chromosomal translocation,inversion,deletion,etc.Chromosomal polymorphism refers to constant nonpathological small differences in chromosomal structure and coloring intensity among different individuals.However,the clinical manifestation of chromosome polymorphism has been controversial.At present,chromosome polymorphism is generally considered as a normal karyotype variation,whose effect on fertility in patients has been neglected in clinic.Objective:In this study,chromosome karyotype analysis of peripheral blood of infertile couples undergoing assisted reproduction in Affiliated Reproductive Hospital of Shandong University was conducted to explore the relationship between infertility and their own chromosomes in patients with assisted reproduction and assisted pregnancy.To find treatment strategies for existing problems,so as to reduce the suffering of patients and social burden.Methods:Patients and their spouses undergoing assisted reproduction in the Affiliated Reproductive Hospital of Shandong University from January 2015 to November 2019 were selected as the research objects.Among them,1438 cases(719 pairs)were patients with RSA(Recurrent Spontaneous Abortion),3792 cases(1896 pairs)were non-abortion patients,and 3292 cases(1646 pairs)were patients with one spontaneous abortion.The results of semen,reproductive hormone and female eggs were analyzed in the chromosome polymorphism group.There were 4434 cases(2280 males and 2154 females)in the chromosome polymorphism group after screening.Results:1.Among 1438 cases of RSA patients,a total of 1118 cases of chromosome normal karyotypes and 320 casese of chromosome variant karyotypes were detected,including 187 cases of chromosomal translocation,accounting for 58.44%of the total variation.2.The subjects were divided into 5 groups based on gender and the number of spontaneous abortions.The results of comparison among the 5 groups showed that there was no statistical significance in the rate of chromosome aberration between the male and female patients with two or more abortions(all P>0.05).The rate of chromosome aberration in both male and female RSA group was higher than that in non-abortion group.The detection rate of chromosomal cross-translocation and Robertson translocation in both male and female patients in RSA group was higher than that in one abortion group(P<0.01).3.A total of 80938 cases of chromosome normal karyotypes,3852 cases of chromosome aberrant karyotypes and 7118 cases of chromosome polymorphic karyotypes were detected in 91908 patients.The detection rates of chromosome aberration and polymorphism in males were significantly higher than those in females(P<0.05).However,after removing Y polymorphism from male chromosome polymorphism,there was no statistical difference in the detection rate of polymorphism between both male and female.4.The couples with normal karyotype were set as the control group,and the male patients were divided into 6 groups according to different chromosome morphology.The results showed that the sperm concentration and total sperm motility in male chromosome Y group were lower than those in the control group,while the concentrations of LH(Luteinizing Hormone)and FSH(Follicle-stimulating Hormone)were higher than those in the control group.Further grouping Y group,the results showed that the sperm concentration and total sperm motility of Yqh-group and Yqh+group were significantly decreased compared with the control group,while FSH and LH of Yqh-group were significantly increased compared with the control group(P<0.05).5.Female patients were divided into 4 groups according to different chromosome morphology,and the results showed that the number of eggs obtained by chromosome polymorphism in inv(9)group was lower than that in the control group.6.Among 4434 cases of chromosome polymorphism,1333 cases of 1qh+accounted for 30.06%of the total polymorphism,and the detection rate of 1qh+ was the highest in both male and female.Conclusion:1.Chromosomal translocation is common in RSA patients of assisted reproduction population.2.The rate of chromosome aberration in patients with two or more spontaneous abortions was higher than that in patients with no abortion or one abortion,and there was no change in the rate of chromosome aberration after two abortions.3.The higher detection rate of chromosome polymorphism in males than in females may be related to the unique Y chromosome polymorphism of male.4.Yqh-and Yqh+are related to male semen and reproductive hormone levels,and clinical attention should be paid to them.5.The low number of retrieved eggs in the inv(9)group suggests that clinical attention should be paid to the potential genetic effect of chromosome 9 inversion on egg count.6.The detection rate of chromosome polymorphism 1qh+in the assisted reproductive population is the highest,indicating that 1qh+may cause fertility abnormalities. |
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