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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 effectiveness of amniotic fluid cell culture and chromosome karyotype analysis in prenatal diagnosis of pregnant women with high risk during the second trimester (18w ~ 23w), and the significance of different puncture indications for prenatal diagnosis of chromosome disease. Methods The chromosomal karyotypes of amniotic fluid cells cultured successfully were analyzed. The types of abnormal karyotypes, abnormal detection rates of different puncture indications and abnormal karyotype distribution were detected. Results Of the 1782 cases successfully analyzed, 44 cases were detected with abnormal karyotype, the rate of abnormality was 2.47%. There were 16 cases with abnormal autosomal chromosome number, 14 cases with abnormal sex chromosome number, and abnormal chromosomal structure (translocation, insertion, etc.). Cases, chromosome polymorphism variant karyotype in 152 cases. Conclusions Prenatal screening and prenatal diagnosis are effective measures to prevent the birth of abnormal chromosomes, which will help to reduce the birth defect rate and improve the quality of birth and quality of life.