检验医学与临床2024，Vol.21Issue(1)：34-38,44,6.DOI:10.3969/j.issn.1672-9455.2024.01.008
自贡地区4 059例不孕不育及不良孕产史患者外周血染色体核型分析
Chromosome karyotype analysis in peripheral blood of 4 059 patients with infertility and adverse pregnancy and delivery history in Zigong area
摘要
Abstract
Objective To analyze the karyotype abnormality of chromosome in peripheral blood of the pa-tients with adverse pregnancy and delivery history and infertility in Zigong area,and to explore its distribution characteristics,so as to provide an evidence for clinical consultation.Methods A total of 4 059 patients with infertility and adverse pregnancy and delivery history received the genetic counseling in the Genetic Reproduc-tive Medicine Center of this hospital from January 2014 to December 2022 were selected as study subjects.Af-ter preparing the peripheral blood chromosome sample,the chromosome karyotypes were analyzed by the G-banding technique.Results The detection rate of abnormal chromosome karyotype was 14.54％(590/4 059).Among the abnormal chromosome karyotypes,44 cases(7.46％)had the chromosome number abnormality,546 cases(92.54％)had the chromosome structure abnormality(including polymorphism),among which,there were 32 cases(5.42％)of balanced translocation,18 cases(3.05％)of Roche translocation,56 cases(9.49％)of inversion,3 cases(0.51％)of deletion or duplication,3 cases(0.51％)of social gender discrepan-cy and 432 cases(73.22％)of polymorphism.In Zigong area,the number of genetic counseling patients was balanced before 2021,and the number of counseling patients was increased sharply in 2022.The number of the cases of detected chromosome abnormalities did not increase significantly compared with the previous period.The number of detected chromosome polymorphism was consistent with the total number trend of chromo-some total abnormalities,and the number of detected chromosome abnormalities and structural abnormalities was balanced in recent years.Conclusion The detection rate of abnormal chromosome karyotype in the pa-tients with adverse pregnancy and delivery history and the patients with infertility in Zigong area was higher than that in the other areas.Conducting the genetic analysis on the key population is helpful to find out the causes,guide fertility,improve the population quality,and provide reference for local genetic counseling and chromosome karyotype analysis.关键词
不孕不育/不良孕产史/染色体核型/染色体多态性/自贡Key words
infertility/adverse pregnancy and delivery history/chromosome karyotype/chromosome polymorphism/Zigong分类
医药卫生引用本文复制引用
曾余,周子靖,陈月华,韦懿,胡勤..自贡地区4 059例不孕不育及不良孕产史患者外周血染色体核型分析[J].检验医学与临床,2024,21(1):34-38,44,6.基金项目
四川省自贡市科学技术局项目(2020ZC29). （2020ZC29）
