孕早期稽留流产绒毛染色体异常结果分析

Analysis of chromosomal abnormalities in fetal malformation in early pregnancy

目的探讨孕早期稽留流产中绒毛染色体核型异常结果的分布情况,以探究流产绒毛染色体检查在孕早期胚胎停育的应用价值。方法通过回顾性分析65例孕早期稽留流产患者的孕周、年龄以及流产绒毛的染色体结果。结果65例孕早期稽留流产绒毛染色体结果正常47例(72.30%),异常18例(29.70%),异常染色体涉及众多条染色体,主要有16三体3例、22-三体2例,还有涉及性染色体数目异常3例,其余还涉及2、3、4、7、8、9、13、15、21号染色体等染色体三体或单体;18例染色体数目异常患者中,其中8例病例的年龄超过35岁,属于高危妊娠。结论在早期稽留流产绒毛染色体异常较为常见,且以染色体数目异常为主,染色体数目畸变中,高龄妊娠是一个重要致病因素。同时绒毛染色体核型分析有利于查明患者稽留流产的真实原因,为遗传咨询提供了有力的诊疗依据。

Objective:To investigate the distribution of villous chromosome karyotype abnormalities in early pregnancy abortion in order to explore the application value of abortion villous chromosome examination in early pregnancy embryo suspension.Methods:The gestational age,age and chromosomal results of the aborted villi of 65 patients with early abortion were analyzed retrospectively.Results:65 cases of early pregnancy missed abortion villus normal chromosome results 47 cases(72.30%),18 cases(29.70%),abnormal chromosome abnormalities involving a number of chromosomes,there are mainly three body 3 cases of 16,22-three body in 2 cases,and 3 cases of sex chromosome aneuploidy,the rest also involves 2,3,4,7,8,9,13,15,chromosome 21 chromosome three body or monomer;Among the 18 patients with abnormal chromosome number,8 of them were over 35 years old and classified as high-risk pregnancy.Conclusion:Chromosomal abnormalities in the villi of early abortion are relatively common,and the majority of chromosomal abnormalities are chromosomal number abnormalities.Among the chromosomal number abnormalities,advanced age pregnancy is an important pathogenic factor.At the same time,the analysis of villous chromosome karyotype is helpful to find out the real causes of miscarriage missed by patients,which provides a powerful basis for the diagnosis and treatment of genetic counseling.