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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。
Objective To detect the microdeletion of chromosome 22q11 by fluorescence in situ hybridization (FISH) to explore the clinical application of this technique in the etiological detection of fetal congenital heart disease. Methods FISH was performed on 41 prenatal diagnoses of various types of cardiac malformations and no significant abnormalities in chromosomal karyotype analysis and 1 case of proband. The detection probes were located in the 22q11 microdeletion syndrome-deficient critical region 22q11 TUPLE1 gene, with the 22q-terminal ARSA gene. Results Fetal FISH was successful in all 41 cases. No microdeletions were found in all fetuses at 22q11 locus. One proband in a fetus family was confirmed as a 22q11 microdeletion syndrome. Conclusion There are many causes of fetal heart malformations. Only a few chromosomal abnormalities can be detected by routine chromosome tests. For all kinds of microdeletions syndromes, higher resolution techniques such as FISH and microarrays are still needed. The related possible causes Disease-targeted detection or screening to improve the detection rate of the cause, to prevent the birth of children with cardiac malformations.