论文部分内容阅读
目的了解异常核型与产前诊断指征的关系,为临床遗传咨询提供依据。方法抽取1262例有产前诊断指征的孕妇孕中期羊水,细胞培养后G显带染色,分析胎儿染色体核型,并根据不同产前诊断指征进行分组。分析不同指征的发病率,并对染色体结构异常胎儿的父母染色体进行检查,以确定结构异常来源。结果 1262例羊水细胞染色体检查者,共检出65例异常核型,异常核型发生率为5.3%。其中,以非整倍体最多见,共检出29例(44.6%);其次为染色体结构异常,共检出27例(41.5%);检出染色体多态性改变7例(10.8%)。结论不同产前诊断指征染色体异常的检出比例有所不同,说明严格把握产前诊断指征的重要性。
Objective To understand the relationship between abnormal karyotypes and prenatal diagnosis indications and provide basis for clinical genetic counseling. Methods A total of 1262 pregnant women with prenatal diagnosis of prenatal diagnosis of amniotic fluid were collected during pregnancy. G - banding staining was performed after cell culture. Fetal karyotypes were analyzed and grouped according to different prenatal diagnosis indications. Analysis of the incidence of different indications, and chromosomal abnormalities in the fetus parent chromosomes to check to determine the source of structural abnormalities. Results In 1262 cases of amniocentesis, 65 cases of abnormal karyotype were detected, and the incidence of abnormal karyotype was 5.3%. Among them, aneuploidy was the most common, 29 cases were found (44.6%); followed by chromosomal abnormalities, a total of 27 cases (41.5%) were detected; chromosome polymorphism detected in 7 cases (10.8%). Conclusions Different prenatal diagnosis indications chromosomal abnormalities detected in different proportions, indicating the strict grasp of the importance of prenatal diagnosis indications.