染色体22q11.2微缺失检测在先心病产前诊断中的应用  

Prenatal Diagnosis for 22q11.2 Deletion Syndrome in Congenital Heart Diseases

作　　者：许育双 刘思平[1] 宋兰林[1] 吴瑞枫[1] 裘毓雯[2] 贾蓓[1] XU Yushuang;LIU Siping;SONG Langlin;WU Ruifeng;QIU Yurong;JIA Bei(Department of Antenatal Diagnosis centre,Gynaecological,Nanfang Hospital,Southern Medical University,Guangzhou,Guangdong,China,510515;Department of Ultrasound,Gynaecological,Nanfang Hospi-tal,Southern Medical University,Guangzhou,Guangdong,China,510515)

机构地区：[1]南方医科大学南方医院妇产科产前诊断中心,广东广州510515 [2]南方医科大学南方医院妇产科超声室,广东广州510515

出　　处：《分子诊断与治疗杂志》2021年第3期418-421,共4页Journal of Molecular Diagnostics and Therapy

基　　金：南方医科大学南方医院院长基金(2020B015);广东省自然科学基金项目(2017A030310098)。

摘　　要：目的研究先心病胎儿中染色体22q11.2微缺失综合征的发生率,探讨在先心病胎儿中进行22q11.2微缺失产前诊断的必要性及可行性。方法选择2014年1月到2019年12月在本院妇产科经胎儿超声检查诊断为先天性心脏畸形的228例胎儿,行绒毛取样、羊膜腔穿刺或脐血穿刺获取胎儿细胞。综合应用染色体核型分析、多重连接依赖探针扩增、荧光原位杂交及单核苷酸多态性微阵列芯片等多种检测技术,对胎儿进行细胞遗传学水平的检测。结果 228例样本中发现染色体非整倍体64例,其中21三体25例、18三体30例、13三体4例、45,X 2例、48,XXY,+18 1例、染色体三倍体2例。对164例染色体核型未见异常者,行全基因组SNP微阵列芯片分析发现9例22q11.2微缺失,22q11.2微缺失在先心病胎儿中的发生率为5.49%。结论胎儿先天性心脏缺陷与染色体22q11.2微缺失有关。在先心病胎儿中行22q11.2微缺失产前诊断是必要可行的,对于优生优育、明确胎儿预后及再发生育风险评估有重要意义。Objective To study the incidence of chromosome 22 q11.2 deletion syndrome in fetuses with congenital heart defect. And to explore the necessity and feasibility of the prenatal diagnosis of chromosome 22 q11.2 deletion in fetuses with congenital heart defect. Methods Chorionic villus sampling,amniocentesis and cordocentesis were used to 228 pregnant women tested as fetal congenital heart defects by prenatal ultrasound examination. Cytogenetic and molecular genetics methods were employed to detect potential mutations,including karyotyping,multiplex ligation-dependent probe amplification(MLPA),fluorescence in situ hybridization(FISH)and single nucleotide polymorphisms array(SNP array). Results There are 9 samples of chromosome 22 q11.2 deletion were found in 228 patients with congenital heart disease,the ratio was5.49%. Conclusion Fetal congenital heart disease is assosiated with chromosome 22 q11.2 deletion. The prenatal diagnosis of chromosome 22 q11.2 deletion in fetuses with congenital heart disease is necessary and feasible,and it is of great significance for eugenics,optimizing fetal prognosis and risk assessment of recurrence.

关 键 词：22q11.2微缺失综合征 先天性心脏病 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]