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| Analysis of peripheral blood abnormal chromosome karyotype of 115 couples with adverse pregnancy history and infertility |
| Sanmenxia Central Hospital, Sanmenxia, Henan Province, 472000 |
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Abstract To analyze the peripheral blood abnormal chromosome karyotype of 115 couples with adverse pregnancy history and infertility. Methods: Totally 585 couples（1,170 cases) with adverse pregnancy history and infertility who had genetic counseling were selected between July 2015 and December 2020. G banding technique was used for chromosome karyotype analysis of these couples. Results: The detection rate of abnormal chromosome karyotype was 9.8% (115/1170). Among the abnormal karyotypes, 93 cases (80.9%) had autosomal abnormalities, which included 26 (22.6%) cases with abnormal abnormalities number and 67 (58.3%) cases with abnormal abnormalities structure. In the 67 cases with abnormalities of autosomal structure, there were 27 (23.5%) cases with interarm inversion, 23 (20.0%) cases with translocation, and 17 (14.8%) cases with Robertson translocation. And in the 27 cases with interarm inversion, there were 21 cases with chromosome 9 inversion, 3 cases with chromosome 7 inversion, 2 cases with chromosome 6 inversion, and 1 case with chromosome 1 inversion. 22 (19.1%) cases had abnormal sex chromosomes, which included 15 cases with abnormal number of sex chromosomes, 6 cases with abnormal structure of sex chromosome, and 1 case with reversal of sex chromosome. The detection rate of male chromosome abnormal karyotype (9.6%) had no significantly different from that (10.1%) of the female (P>0.05), there was significant difference in the composition rate of abnormal chromosome karyotype between the male and the female (P<0.05), of which the proportion of sex chromosome aneuploidy of male was significantly higher than that of female, but the composition rate of abnormal number and abnormal structure of autosomal chromosome, abnormal structure of sex chromosome, and reversal of sex chromosome of male were significantly lower than those of female (P<0.05). The clinical manifestations of the couples with abnormal chromosomal karyotype included the recurrent abortion, the embryo suspension, the fetal chromosomal abnormality, the stillbirth and stillbirth, the malformation fetus history, the newborns with congenital diseases, the azoospermia, the oligospermia, and the asthenozoospermia. Conclusion：The detectable rate of abnormal chromosome karyotype of the infertility couples with adverse pregnancy history is 9.8%, which provides evidences for local genetic counseling and karyotype analysis.
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