8096例遗传咨询者外周血染色体核型及多态性分析OA

Objective To analyze the characteristics of abnormal karyotypes and chromosomal polymor-phisms in peripheral blood among the genetic counselors to provide the evidence for clinical diagnosis.Methods A retrospective analysis was conducted on the test results of 8 096 subjects who visited this hospi-tal,received the genetic counseling and completed the karyotype analysis of peripheral blood chromosomes from January 2018 to December 2024.The types,polymorphisms and constituent ratios of karyotype abnor-malities were statistically analyzed.The large sample reports of karyotype analysis published in China National Knowledge Infrastructure(CNKI),VIP and Wanfang databases from January 2014 to December 2024 were simultaneously retrieved,and the abnormal karyotype analytical data reported from the literature were com-pared with the study results.Results Among 8 096 subjects,237 cases of chromosomal abnormal karyotypes were detected with the detection rate of 2.93%,and 1 031 cases exhibited the chromosomal polymorphisms with the detection rate of 12.73%.Among 237 cases of chromosomal abnormal karyotypes,126 cases were the chromosomal structural abnormalities(predominantly balanced translocations and Robertsonian transloca-tions,95 cases),100 cases were the chromosomal numerical abnormalities(Turner syndrome being the most common,42 cases),and 11 cases were other abnormalities.The primary reasons for consultation among 237 cases of chromosomal karyotypes abnormalities were the adverse pregnancy history(23.63%)and infertility(18.14%).The detection rate of chromosomal abnormal karyotypes in this study was lower than the com-bined value in the literature(3.57%)and the difference was statistically significant(P<0.01).The propor-tion of chromosomal numerical abnormalities in this study was lower than the combined value in the literature(56.75%),and the difference was statistically significant(P<0.001).The proportion of chromosomal struc-tural abnormalities in this study showed no statistically significant difference compared with the combined val-ue in the literature(47.85%,P>0.05).Among the specific types of chromosomal numerical abnormalities,the proportion of trisomy 21 in this study(8.00%)was lower than the combined value in the literature(40.16%),and the difference was statistically significant(P<0.001).Among chromosomal structural abnor-malities,the proportions of balanced translocations,and inversions were generally closed to the literature com-bined values,while the proportion of isochromosomes was significantly higher than the literature combined value,and the difference was statistically significant(3.97%vs.0.98%,P<0.05).Meanwhile,the significant regional differences in abnormal karyotypes were observed.Conclusion This study shows that chromosomal ab-normal karyotypes in genetic counselors are more common in balanced translocations and Turner syndrome,with a relatively high detection rate of polymorphisms.Compared with the literature combined value,the total detection rate of chromosomal abnormalities and the proportion of chromosomal numerical abnormalities are both relatively low,in which the proportion of trisomy 21 syndrome is significantly decreased,in the chromo-somal structural abnormalities,the proportion of isomeric chromosomes is increased significantly,which indi-cates that the regional difference exist.The peripheral blood chromosome karyotype analysis is of great clinical significance for clarifying the cause,guiding eugenics and healthy birth and reducing the birth defects.