摘要
目的对比分析低深度全基因组测序(CNV-seq)和染色体微阵列分析(CMA)检测在颈部透明层(NT)增厚胎儿产前诊断中的价值。方法回顾性分析2019年1月至2020年12月九江市妇幼保健院接受早孕期产前检查的120例胎儿NT厚度≥2.5mm孕妇的临床资料,以随访确诊结果为金标准,比较CNV-seq和CMA检测结合染色体核型分析对出生缺陷的检测效能。结果随访确诊结果显示,120例胎儿NT厚度≥2.5mm孕妇中,致病性染色体异常22例,非致病性98例。CNV-seq检测结合染色体核型分析检出致病性染色体异常21例,非致病性99例;CMA检测结合染色体核型分析检出致病性染色体异常14例,非致病性106例。CNV-seq检测结合染色体核型分析的灵敏度、准确率均高于CMA检测,差异有统计学意义(P<0.05);两种方法特异度比较差异无统计学意义。CNV-seq检测、CMA检测的ROC曲线下面积分别为0.858、0.792,CNV-seq检测的诊断效能较高。结论CNV-seq检测结合染色体核型分析较CMA检测结合染色体核型分析在NT增厚胎儿产前诊断中的灵敏度和准确率更高,价格相对低廉,应用价值更高。
Objective To compare and analyze the significance of copy number variation sequencing(CNV-seq)and chromosome microarray analysis(CMA)detection in prenatal diagnosis of fetus with thick nuchal translucency(NT).Methods The clinical data of 120 pregnant women with fetal NT thickness≥2.5 mm who received prenatal examination in Jiujiang Maternal and Child Health Hospital from January 2019 to December 2020 were retrospectively analyzed,took the follow-up diagnosis results as the gold standard,the detection efficiency of CNV-seq combined with chromo-some karyotype analysis and CMA combined with chromosome karyotype analysis were compared.Results The results of follow-up showed that among 120 pregnant women with fetus NT thickness≥2.5 mm,22 cases(18.33%)had pathogenic chromosomal abnormalities,and 98 cases of non pathogenic chromosomal abnormalities;21 cases of pathogenic chromosomal abnormalities and 99 cases of non pathogenic chromosomal abnormali-ties were detected by CNV-seq detection combined with chromosomal karyotype analysis;14 cases of pathogenic chromosomal abnormalities and 106 cases of pathogenic chromosomal abnormalities.The sensitivity and accuracy of CNV-seq combined with karyotype analysis were higher than those of CMA combined with karyotype analysis,the differences were statistically significant(P<0.05),there was no significant difference between the two methods.The area under ROC curve was 0.858 and 0.792,respectively,and the CNV-seq had high diagnostic efficiency.Conclusion CNV-seq combined with karyotype analysis has higher sensitivity and accuracy,lower price and higher application value in prenatal diagnosis of NT thick-ened fetus.
作者
孔凤琳
詹秀云
洪玉霞
廖平英
孙曼
周丽英
KONG Fenglin;ZHAN Xiuyun;HONG Yuxia;LIAO Pingying;SUN Man;ZHOU Liying(Department of Obstetrics and Gynecology,Jiujiang Maternal and Child Health Hospital,Jiujiang,Jiangxi,332000,China;Department of Obstetrics and Gynecology,Jiujiang College Hospital,Jiangxi,332000,China)
出处
《当代医学》
2024年第6期106-110,共5页
Contemporary Medicine
