荧光原位杂交在产前诊断胎儿先心病22q11微缺失中的应用

目的应用荧光原位杂交（FISH）技术检测胎儿染色体22q11微缺失,以探讨该技术在胎儿先天性心脏病病因检测中的临床应用。方法对41例产前诊断有各类心脏畸形、且染色体核型分析结果未见明显异常的胎儿以及1例先证者进行FISH检测,检测探针位于22q11微缺失综合征微缺失关键区域22q11的TUPLE1基因,与22q末端ARSA基因。结果 41例胎儿FISH检测均成功,所有胎儿22q11两位点均未发现微缺失;一胎儿家庭的1名先证者经检测确证为22q11微缺失综合征患者。结论胎儿心脏畸形有多种病因,常规染色体检查仅能检出其中一部分染色体数目异常,对于各种微缺失综合征,仍然需要FISH、芯片等更高分辨率的技术手段应用,对相关可能的致病位点进行针对性检测或筛检,以提高病因检出率,防止心脏畸形患儿出生。

Applying FISH to detect 22qll microdeletion syndrome in cardiac abnormal fetuses.

Objective： Applying fluorescence in situ hybridization （FISH） to detect the micro-deletion of chromosome 22qi I, to evaluate the application of FISH in prenatal diagnosis of fetal cardiac abnormality. Methods： 41 heart abnormal samples and 1 proband with 22ql 1 microdeletion, which with no apparent abnormalities in chromosome karyotyping, were detected by FISH with TUPLEI/ARSA probes located in 22qll and 22q termination. Results： All 41 detections were successful, and the results of chromosome 22qll micro-deletion were negative. Also there is a prohand was proved to be a 22ql 1 microdeletion syndrome patient. Conclusions： There are many causes for fetal cardiac abnormality. Karyotyping is only to detect the chromosome numeral causes but not micro-deletion syndromes, high-resolution methods like FISH and array-CGH are more proper choices applied to detect all known sites related to fetal cardiac abnormalities, to improve the cause detecting rate and reduce born abnormal fetus.