SNP-array技术在超声波检测胎儿肾脏多囊性病变中的应用

Application of single nucleotide polymorphism microarray technology in ultrasonic detection of fetal renal polycystic lesions

目的探讨常规G显带染色体核型分析与单核苷酸多态性微阵列(SNP-array)技术在超声波检测胎儿肾脏多囊性病变中的应用价值。方法选取产前检查并且超声检查结果提示胎儿肾脏多囊性病变的107例胎儿为研究对象,回顾性分析107例胎儿肾脏多囊性病变的孕妇于中或晚孕期分别行介入性产前诊断羊水、脐带血标本的临床资料,同时行染色体核型分析与SNP-array检查。本研究受试者均签署知情同意书。结果107例胎儿肾脏多囊性病变的胎儿样本中,检出染色体核型异常3例,异常检出率2.8%(3/107);SNP-array检出异常9例,异常检出率为8.4%(9/107)。SNP-array异常检出率明显高于染色体核型异常检出率,检出染色体异常中,3例染色体核型异常分别为:1例克氏综合征,1例45,XN,der(14;21)(q10;q10),1例46,XN,der(13)t(3;13)(q27;q34)。但SNP-array检出异常的病例中,6例为致病性拷贝数变异,1例为可能性拷贝数变异,2例为临床意义不明拷贝数变异。结论对超声检测提示胎儿肾脏多囊性病变的胎儿样本,SNP-array检测技术可以显著提高其病变的检出率,还可以发现核型无法识别的微缺失和微重复综合征,并且通过SNP-array技术降低出生缺陷率,为临床咨询及预后提供强有力的依据以达到优生优育的目的。

Objective To investigate the application of routine G-banding chromosome karyotype analysis and single nucleotide polymorphism microarray in ultrasonic detection positive fetal renal polycystic lesions.Methods One hundred and seven fetuses received prenatal examination and ultrasound examination results indicated polycystic kidney lesions were selected as the research subjects.The clinical data of the 107 pregnant women with fetal polycystic kidney disease who received interventional prenatal diagnosis of amniotic fluid and umbilical cord blood samples during middle or late pregnancy were retrospectively analyzed.Meanwhile,chromosome karyotype analysis and SNP-array examination were performed.All subjects in this study signed informed consent.Results Among 107 fetal samples with polycystic kidney disease,3 cases had abnormal chromosome karyotype,and the abnormal detection rate was 2.8%(3/107);and SNP-array abnormalities was detected in 9 cases,and the abnormal detection rate was 8.4%(9/107).The detection rate of SNP-array abnormality was significantly higher than that of chromosome karyotype abnormality.Among the detected chromosome abnormalities,3 cases of chromosomal karyotype abnormalities were as follows,1 case of Klinefelter syndrome,1 case of 45,XN,der(14;21)(q10;q10),1 case of 46,XN,der(13)t(3;13)(q27;q34).However,among the abnormal cases detected by SNP array,6 cases were pathogenic copy number variation,1 case was possible copy number variation,and 2 cases were clinically unknown copy number variation.Conclusion SNP-array detection can significantly improve the detection rate of fetal renal polycystic lesions,and also microdeletions and microduplication syndromes that cannot be recognized by karyotype;thus reduce the rate of birth defects by SNP-array detection.So as to provide a strong basis for clinical consultation and prognosis to achieve the purpose of eugenics.