1782例羊水细胞培养及染色体分析

Amniotic cell culture and chromosomal karyotype analysis of 1782 cases

目的探讨孕中期(18w～23w)高危孕妇羊水细胞培养及染色体核型分析在产前诊断中的必要性及有效性,以及不同穿刺指征对于染色体病产前诊断的意义。方法对于成功培养的羊水细胞染色体核型结果进行分析,检出异常核型的类型、不同穿刺指征的异常检出率以及异常核型分布的特点。结果成功分析的1782例标本,检出异常核型44例,异常检出率为2.47%,其中常染色体数目异常16例,性染色体数目异常14例,染色体结构异常(易位,插入等)14例,染色体多态性变异核型152例。结论产前筛查和产前诊断是防止异常染色体儿出生的有效手段,有利于降低出生缺陷率、提高出生人口素质和生命质量。

Objective ： To investigate the necessity and significance of Amniotic cell culture and chromosomal karyotype analysis for the high risk pregnant women in interim gestational weeks （18w- 23w） with prenatal diagnosis indication, and assess the importance of the different puncture indication in prenatal diagnosis for chrimosome disease. Methods： Analysis chromosome karyotype in the successful amniotic cell culture, detect the type of chromosomal abnormality, the rate of the chromosomal abnormal in different puncture indication and the distributive character of chromosomal abnormality. Results ： The detectation rate of the chromosomal abnormality in the 1782 cases of successful analysis was 2.47% （44 cases）. Among 44 cases abnormaI karyotype, 16 cases were euchromosome number abnomal, 14 cases were sex chromosome number abnornal, 14 cases were aberrations of chromosomaI structure （ translocation/insert） , 152 casess were chromosomal polymorphism. Conclusions： Prenatal screening and prenatal diagnosis was an effective method to reduce the birthrate of child with chromosome defects, in favor of reducing the birth defect rate and increasing the birth population quality.