单核苷酸微阵列芯片技术联合染色体核型分析在产前诊断中的应用  

Application of single nucleotide polymorphism microarray combined with chromosomal karyotype analysis in prenatal diagnosis

作　　者：黄霜 陈素琴 HuangShuang;Chen Suqin(Department of Laboratory,Panyu Hexian Memorial Hospital,Guangzhou 511400,Guangdong,China;Department of Medical Genetics,Zhongshan Medical College,Sun Yat-sen University,Guangzhou 510080,Guangdong,China)

机构地区：[1]广州市番禺区何贤纪念医院检验科,广东广州511400 [2]中山大学中山医学院医学遗传学教研室,广东广州510089

出　　处：《广州医科大学学报》2024年第2期30-35,共6页Academic Journal of Guangzhou Medical University

摘　　要：目的:评估G显带染色体核型分析与单核苷酸多态性微阵列芯片(single nucleotide polymorphism array,SNParray)同时检测在羊水产前诊断中的应用,为临床诊断与遗传咨询提供依据。方法:选取837例具有产前诊断指征而行产前诊断的孕妇,知情同意后采集羊水行染色体G显带核型分析和SNParray检测,分析检测结果。结果:核型分析、SNParray技术和联合应用的异常检出率分别为11.11%、13.14%和14.70%。依据不同的指征分组,染色体核型分析和SNParray的异常率,无创产前检测(NIPT)高危组最高,胎儿超声异常组次之。SNParray全部检出核型分析发现的59例胎儿染色体数目异常;SNParray在30例核型分析漏诊的胎儿中检测出拷贝数异常(CNV);此外,SNParray能够识别未知片段的来源。SNParray检出的10例嵌合体,全部与核型分析结果一致。核型分析异常而SNParray漏检的有10例,其中8例为平衡异位或倒位,2例为嵌合体。联合分析检出异常的123例胎儿中,经过遗传咨询,79例家属选择终止妊娠,44例家属选择继续妊娠;选择继续妊娠的,44例顺利出生;这些出生的病例均随访至婴儿出生后1年,暂未发现与产前诊断结果不符的病例。结论:G显带染色体核型分析与SNParray技术各有优缺点,联合应用可明显提高产前诊断中染色体异常的检出率,从而为临床诊断与遗传咨询提供更好的指导。Objective:To evaluate the application of G banding karyotype analysis combined with single nucleotide polymorphism microarray(SNP array)technology in prenatal diagnosis of amniotic fluid,and provide evidence for clinical diagnosis and genetic counseling.Methods:A total of 837 pregnant women with prenatal diagnosis indications were selected.After obtaining informed consent,amniotic fluid was collected for G banding karyotype analysis and SNParray detection,and the test results were analyzed.Results:The abnormal detection rates of karyotyping,SNParray,and the combined application were 11.11%,13.14%,and 14.70%,respectively.According to different prenatal diagnostic indications,the abnormal detection rates of karyotyping and SNParray were the highest in the highrisk group of NIPT(noninvasive prenatal testing).The second highest was the fetal ultrasound abnormality group.SNParray detected all 59 cases of fetal chromosomal number abnormalities found by karyotype analysis.SNParray detected copy number variations(CNVs)in 30 fetuses missed by karyotype analysis.In addition,SNParray could identify the source of unknown fragments.There were 10 cases of abnormal karyotype analysis but missed by SNParray,including 8 cases of balanced translocation or inversion,and 2 cases of mosaicism.The 10 cases of mosaicism detected by SNParray were all consistent with the result of karyotype analysis.There were 10 cases of abnormal karyotype analysis but missed by SNParray,including 8 cases of balanced chromosomal translocation or inversion,and 2 cases of mosaicism.Among the 123 cases with abnormal karyotype analysis detected by combined analysis,79 cases were selected for termination of pregnancy by genetic counseling,44 cases were selected for continuation of pregnancy,and 44 cases were successfully born.These cases were followed up to 1 year after birth,and no cases inconsistent with the prenatal diagnosis results were found.Conclusions:Both Gbanding karyotype analysis and SNP array technology have their own advantages and disadvantage

关 键 词：产前诊断 G显带染色体核型分析 单核苷酸微阵列芯片技术 羊水 

分 类 号：R715.5[医药卫生—妇产科学]