染色体倒位对妊娠结局遗传效应的回顾性研究

Genetic effect of chromosomal inversion to pregnancy: a retrospective study

目的探讨染色体倒位对妊娠结局的遗传效应。方法对2009年1月至2011年2月因不良妊娠生育史在本院妇科门诊及优生门诊遗传咨询的3 610例就诊者取外周血培养进行染色体G显带分析。结果 3 610例中发现76例染色体倒位患者共14种倒位类型,其中46例本人或配偶有自然流产史(流产1次12例,流产2次26例,流产3次8例),不孕不育2例,死胎畸胎8例(合并自然流产2例),精液异常5例,余15例无不良妊娠史。结论染色体倒位可能会导致自然流产、不孕不育、畸胎等不良妊娠结局;必要的产前诊断可防止染色体病患儿出生。

Objective To investigate the genetic effect of chromosome inversion on pregnancy outcome.Methods A total of 3 610 cases with history of abnormal pregnancy who were outpatients or consultants in our center were enrolled.Their peripheral blood samples were collected and cultured for G-band karyotyping.The results were studied with clinical data.Results There were 76 cases found with chromosome inversion in the 3 610 cases,including 14 different types of inversion.Among the 76 cases,46 individuals themselves or their spouses had history of miscarriage（12 cases with 1 miscarriage,24 cases with 2 miscarriages and 8 cases with 3 miscarriages）.At the same time there were two cases of infertility,8 cases of stillbirth or abnormity,and 5 cases with abnormal sperm.Conclusion Chromosomal inversions may result in miscarriage,stillbirth and congenital malformation.Prenatal diagnosis to the carriers of inversion is of very important value.