染色体22q11.2微缺失检测在先心病产前诊断中的应用

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...

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

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.