摘要
目的探讨在先心病胎儿中进行22q11微缺失产前诊断的必要性及可行性。方法对产前胎儿超声检查诊断为先天性心脏畸形的孕妇16例行羊膜腔穿刺或脐静脉穿刺获取胎儿细胞，并行染色体核型分析及双色荧光原位杂交检测22q11微缺失。结果16例中检出22q11微缺失1例。结论在先心病胎儿中行22q11微缺失产前诊断是有必要的，且可行的，对避免22q11微缺失的先心病患儿出生及再发生育风险评估有重要意义。
Objective To explore the necessity and feasibility of the prenatal diagnosis of 22ql 1 microdeletion in fetuses with congenital heart disease. Methods Amniocentesis or cordocentesis were used to get the cells of fetuses in 16 pregnant women tested as fetal congenital heart defects by prenatal ultrasound examination. Then the karyotype analysis and two-color fluorescence in sitn hybridization were all carried out for detection of 22ql 1 microdeletion in these fetuses. Results 22ql 1 microdeletion was detected in 1 case. Conclusion 22qll microdeletion prenatal diagnosis in fetuses with congenital heart disease is necessary and feasible. It has great significance for avoiding the birth of children with congenital heart disease caused by 22ql 1 microdeletion and recurrence birth risk assessment.
出处
《国际医药卫生导报》
2011年第24期2975-2978,共4页
International Medicine and Health Guidance News
基金
珠海市卫生局课题（2009026）
关键词
22Q11微缺失
先天性心脏病
荧光原位杂交
产前诊断
22ql 1 microdeletion
Fluorescence in situ hybridization
Congenital heart diseas
Prenatal diagnosis
