染色体微阵列与核型分析联合检测在产前诊断胎儿超声异常中的应用价值

The application value of combined detection of chromosome microarray and karyotype analysis in prenatal diagnosis of fetal ultrasound abnormalities

目的探讨染色体微阵列与染色体核型分析联合在产前诊断胎儿超声异常中的应用价值。方法收集汕头大学医学院附属粤北人民医院2018年1月至2023年12月超声显示胎儿异常的547例孕妇,行羊膜腔穿刺做染色体核型及染色体微阵列(CMA)分析。结果547例胎儿染色体核型和CMA均检测成功,染色体核型结果异常27例,检出率4.9%(27/547);CMA结果异常59例,检出率10.8%(59/547),其中36例致病性CNVs,2例可能致病CNVs,21例意义不明CNVs。染色体核型与CMA检测结果均异常且一致的有21例,染色体数目异常19例,染色体结构异常2例,两者结果均异常不一致的有1例,为标记染色体。染色体核型异常而CMA结果正常的有5例,染色体核型异常以结构重排为主。超声胎儿异常染色体核型正常而CMA结果异常的有37例。结论染色体核型分析联合CMA技术可进一步提高超声胎儿异常的染色体异常检出率与准确率,两者具互补性。对超声异常的胎儿,应同时进行两者检测。

Objective To explore the application value of combining chromosome microarray and chromosome karyotype analysis in prenatal diagnosis of fetal ultrasound abnormalities.Methods 547 pregnant women with fetal abnormalities detected by ultrasound in our hospital from January 2018 to December 2023 were collected,and amniocentesis was performed for chromosome karyotype and chromosome microarray(CMA)analysis.Results 547 fetal chromosomal karyotypes and CMA were successfully detected,with 27 cases showing abnormal chromosomal karyotype results and a detection rate of 4.9%(27/547);59 cases had abnormal CMA results,with a detection rate of 10.8%(59/547),including 36 cases of pathogenic CNVs,2 cases were potentially pathogenic CNVs,and 21 cases of CNVs with unknown significance.There were 21 cases with abnormal and consistent chromosomal karyotype and CMA detection results,19 cases of chromosomal number abnormalities and 2 cases of chromosomal structural abnormalities.There was 1 case with abnormal and inconsistent results,which was a marker chromosome.There were 8 cases of chromosomal karyotype abnormalities with normal CMA results,and chromosomal karyotype abnormalities were mainly structural rearrangement abnormalities.There were 37 cases of abnormal chromosomal karyotypes and abnormal CMA results in ultrasound fetuses.Conclusion Chromosomal karyotype analysis combined with CMA technology can further improve the detection and accuracy of chromosomal abnormalities in ultrasound fetuses,exhibiting the complementary relationship between the two methodologies..For fetuses with ultrasound abnormalities,it is recommended to offer both karyotype analysis and CMA technology simultaneously.