CMA联合超声及核型在产前胎儿染色体异常诊断中的临床意义

Clinical significance of chromosomal microarray analysis combined with ultrasonography and karyotype in the prenatal diagnosis of fetal chromosomal abnormalities

目的探讨联合多项指标进行产前诊断的临床意义。方法对有产前诊断指征者采取NIPT、产前超声、染色体高分辨核型分析及SNParray等多种技术进行产前诊断。结果359例羊水细胞培养染色体核型分析,检出染色体异常35例,检出率为9.75%,数目异常13例,占37.14%;结构异常22例,占62.86%。异常发生在1、2、4、5、6、7、8、9、11、12、13、14、17、18、21、X、Y,17条染色体上。异常类型有平衡易位,染色体部分重复、缺失,假双着丝粒,衍生插入等异常。结论由于多种技术引入,联合应用多项技术的产前诊断结果良好,并具有乐观前景。对疑有遗传病的患者进行的染色体微阵列分析检出了染色体小片段变异。通过技术互补作用,提升了异常检出率,为遗传咨询和产前诊断提供了更好的依据。

Objective To investigate the clinical significance of prenatal diagnosis with the joint application of multiple techniques.Methods Prenatal diagnosis was performed by applying various techniques such as NIPT,prenatal ultrasound,high-resolution karyotype analysis and SNP array for patients with prenatal diagnosis indications.Results Karyotype analysis of 359 cases of amniotic fluid cell culture identified 35 cases of chromosomal abnormalities,with a detection rate of 9.75%.13 cases showed numerical abnormalities,accounting for 37.14%of total abnormalities detected,and 22 cases showed structural abnormalities,accounting for 62.86%of total abnormalities detected.Abnormalities were detected in 17 chromosomes including chromosomes 1,2,4,5,6,7,8,9,11,12,13,14,17,18,21,X,Y.Detected abnormalities included balanced translocations,partial duplications and deletions,pseudo dicentric chromosomes,and derivative chromosomes,etc.Conclusion Due to the introduction of multiple techniques,the results of prenatal diagnosis with the joint application of multiple techniques were promising and had optimistic prospects.For instance,chromosomal microarray analysis performed on patients suspected to have genetic diseases detected small-segment chromosomal variations.In summary,utilizing multiple technologies have improved the diagnostic yield and provided solid evidence for genetic counseling and prenatal diagnosis.