| Objective:To study the effects of chromosome polymorphism and aberration on reproduction and pregnancy.Methods: Selecting 310 pairs of chromosome polymorphism couples and 55 pairs of chromosome aberration couples who were diagnosed due to abnormal fertility in the reproductive center of the First Affiliated Hospital of Anhui Medical University from January 2016 to December 2017,according to the sex of the patients Polymorphism is divided into: female polymorphism group,male polymorphism group and both polymorphism groups.Chromosomal aberrations are divided into female distortion group and male distortion group.The composition ratio of different types of chromosomal polymorphism and aberration,as well as the reasons for seeking medical treatment and clinical phenotype of patients were analyzed,and whether pregnancy,pregnancy complications and complications,pregnancy outcome,neonatal length,weight,and the growth and intellectual development of children aged 0-3 years born alive were followed up.The data were analyzed by SPSS 16.0 software.P<0.05 indicated that the difference was statistically significant.Results: 1.Among the 1519 couples with fertility abnormality,395 cases of chromosome polymorphism and aberration were detected,and the detection rate was13.00%(395/3038).There were 340 polymorphisms,and the detection rate was 11.19%(340/3038).The composition ratio of male chromosome polymorphism was 64.41%(219/340),which was higher than that of female chromosome polymorphism(35.59%(121/340).1,9,16qh+/-totaled 206 cases,the composition ratio was 60.59%(206/340),D/G group was 47 polymorphisms,the composition ratio was 13.82%(47/340),and inv(9)13 cases The composition ratio was 3.82%(13/340),and the Y chromosome was polymorphic in 74 cases,and the composition ratio was 21.76%(74/340).There were55 cases of chromosomal aberrations,the detection rate was 1.81%(55/3038),of which36 cases were male with a composition ratio of 65.45%(36/55),which was higher than female chromosome aberration ratio(34.55%(19/55).Including 23 cases of balanced translocation and 1 case of roche translocation,the karyotypes were 45,XX,rob(13;14).There were a total of 19 cases with abnormal number of sex chromosomes,and the detected proportion was 34.55%(19/55),including 15 cases of 47 XXY,1 case of47 XYY,1 case of 48 XXYY,2 cases of 47 XXX,and 2 cases of X chromosome structure abnormalities,with karyotype: 46,X,del(X)(q).The clinical phenotypes of translocation were mainly two or more abortions,oligospermia and asthenospermia,and the clinical manifestations of abnormal number of sex chromosomes were mainly azoospermia.2.Among the reasons for patients with chromosomal polymorphism,abortion history of two or more times and abnormal semen examination were the main ones,accounting for 44.75% and 31.79%,respectively.The incidence of abortion two or more in the male polymorphism group was lower than that of the female and the polymorphism group.The incidence of semen abnormalities in the male polymorphism group was higher than that of the female and the polymorphism groups,and the two were in the female side.Similar to the incidence in both polymorphism groups.3.The abortion rate of the female polymorphism group was 12.24%(6/49),the abortion rate of the male polymorphic group was 11.76%(12/102),and the abortion rate of the polymorphic group was 33.33%(7/21).Compared with the female polymorphism group,the abortion rate of the polymorphic group was significantly increased.The difference between the male polymorphism group and the polymorphism group was statistically significant(P<0.05).The female polymorphism group and the polymorphism group and the male and female parties.There was no significant difference in polymorphism group(P>0.05).There was no significant difference in the full-term yield and preterm birth rate between the three groups(P>0.05).4.The incidence of premature rupture of membranes in polymorphic patients was as high as 4.46%.5.The re-pregnancy rate of couples with chromosomal aberrations was 58.14%(25/43),the abortion rate was 36.00%(9/25),the premature yield was 8.00%(2/25),and the full-term yield was 56.00%(14/25).The natural pregnancy rate was 6.98%(3/43),and the assisted reproductive pregnancy rate was 30.23%(13/43).The cesarean sectionrate was up to 56.25%.6.There were no significant differences in the live birth rate and stillbirth rate of perinatal and the birth length and body weight of live births in the three groups of chromosome polymorphic couples(P>0.05).There was no significant difference in body length and body weight between the two groups of chromosomal aberrations(P>0.05).7.There was no obvious abnormality in the growth and mental development of the0-3 year old offspring of chromosomal polymorphic couples.8.In the chromosomal aberration group,more than 4/5 of the live births were carried out through ART,and there was no obvious abnormality in the growth and mental development of the offspring born through ART.Conclusion:1.Chromosome polymorphism(especially in couples)may have an impact on reproduction and pregnancy.2.Chromosomal polymorphism has no significant effect on the birth of the offspring and its growth and mental development.3.The chromosomal aberrations of the offspring of the couple born through ART technology and their growth and mental development have no obvious abnormalities. |
PDF Full Text Request