摘要
目的应用染色体微阵列分析(CMA)技术在全基因组水平分析先天性心脏病(CHD)胎儿的遗传学病因,探索CMA技术在CHD胎儿致病基因检测中的临床应用价值。方法选取216例经胎儿超声心动图确诊为CHD胎儿的羊水或者脐血标本进行常规染色体核型分析,所有标本同时增加CMA检测,应用相关生物信息学数据库对结果进行分析,并随访胎儿的妊娠结局。结果在216例CHD胎儿中,染色体异常检出率为8.80%(19/216),CMA检测显示致病性染色体拷贝数变异(CNV)的检出率为14.35%(31/216)。根据结构畸形情况分成3组:单一心脏结构畸形组(Ⅰ组91例)、多发心脏结构畸形组(Ⅱ组66例)、心内合并心外结构畸形组(Ⅲ组59例)。3组胎儿染色体异常检出率分别为:Ⅰ组6.59%(6/91)、Ⅱ组9.09%(6/66)、Ⅲ组11.86%(7/59),差异无统计学意义(P>0.05);3组胎儿CMA致病性CNV检出率分别为:Ⅰ组8.79%(8/91)、Ⅱ组13.64%(9/66)、Ⅲ组23.73%(14/59),差异无统计学意义(P>0.05);在197例染色体正常的CHD胎儿中,CMA额外检测到14例异常,可将CHD胎儿的遗传学病因检出率提高7.11%。结论在常规染色体核型分析基础上增加CMA检测,可以提高CHD胎儿的遗传学病因检出率,为评估CHD胎儿的远期预后提供科学依据。
Objective Chromosomal microarray analysis(CMA)was used to analyze the genetic etiology of fetuses with congenital heart disease(CHD)at the whole genome level,and to explore the clinical application value of CMA in the pathogenic genes of fetuses with CHD.Methods The amniotic fluid or cord blood samples of 216 fetuses diagnosed with CHD by fetal echocardiography were selected for routine chromosomal karyotype analysis,and CMA detection was added to all samples at the same time.The results were analyzed using relevant bioinformatics database,and the fetal pregnancy outcomes were followed up.Results Among all the cases,CMA revealed 31 fetuses with pathogenic chromosome copy number variations(CNV)was 14.35%,and chromosome karyotype analysis showed 19 fetuses with abnormal karyotype(8.80%).The 216 fetuses were divided into three groups,GroupⅠ:isolated CHD(n=91);GroupⅡ:complicated CHD(n=66);GroupⅢ:CHD with extra-cardiac structural abnormalities(n=59).And the abnormal karyotype rates among the three groups were 6.59%(6/91),9.09%(6/66),11.86%(7/59),respectively(P>0.05).The pathogenic detection rates by CMA testing among the three groups were 8.79%(8/91),13.64%(9/66),23.73%(14/59),respectively(P>0.05).Among the 197 CHD fetuses with normal chromosome,CMA detected an additional 14 abnormalities,increasing the detection rate of genetic causes by 7.11%.Conclusion Compared with the chromosome karyotype analysis,the application of CMA in CHD fetuses could increase the detection rate of genetic etiology.The CMA testing may benefit evaluation of CHD fetuses in prenatal diagnosis.
作者
钟艳娟
卢建
吴佳佳
吴泽珊
陈剑虹
ZHONG Yanjuan;LU Jian;WU Jiajia;WU Zeshan;CHEN Jianhong(Prenatal Diagnosis Center,the First Maternal and Children′s Health Care Hospital,Huizhou,Guangdong 516001,China;Center for Genetic Medicine,Guangdong Maternal and Children′s Health Care Hospital,Guangzhou,Guangdong 510000,China)
出处
《检验医学与临床》
CAS
2022年第5期602-605,610,共5页
Laboratory Medicine and Clinic
基金
广东省惠州市科技专项资金项目(20200403)。
关键词
先天性心脏病
染色体微阵列分析
染色体核型分析
染色体拷贝数变异
产前诊断
congenital heart disease
chromosome microarray analysis
chromosome karyotype analysis
chromosome copy number variations
prenatal diagnosis
