22q 11.2微缺失伴先天性心脏病的诊断技术研究

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Abstract ObjectiveTo discuss the clinical value of fluorescence in situ hybridization(FISH)combined with ultrasonic cardiogram on 22q 11.2 microdeletion accompanied with congenital heart disease(CHD).MethodsA total of 62 high risk pregnant women from January 2013 to December 2014 were chosen.The FISH technique was applied to detect 22q 11.2 microdeletion,and ultrasonic cardiogram was used to diagnose clearly.ResultsFive fetuses with 22q 11.2 microdeletion were detected,from whom 3 fetuses were diagnosed as tetralogy of Fallot,and 2 fetuses were diagnosed as ventricular septal defect.The ultrasonic cardiogram showed that 2 fetuses with tricuspid regurgitation slightly,2 fetuses with pulmonary stenosis and 1 fetus with patent ductus arteriosus were detected in 57 fetuses without 22q 11.2 microdeletion. Abnormality rate in group with 22q 11.2 microdeletion and group without 22q 11.2 microdeletion was 100.00%and 8.77%respectively,and difference was statistically significant(χ2=28.28,P＜0.01).ConclusionDetecting 22q 11.2 microdeletion with FISH technique and diagnosing clearly CHD with ultrasonic cardiogram has high clinical application value and it is worthy of clinical promotion and application.

Key words： Fluorescence in situ hybridization Ultrasonic cardiogram 22q 11.2 microdeletion Congenital heart disease

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	Articles by authors
	JIANG Hua-jing
	CHEN Jing
	LIN Li-xuan
	XIONG Jian
	QI Fang
	HU Zhi-yang

Cite this article:

JIANG Hua-jing,CHEN Jing,LIN Li-xuan, et al. Diagnosing technique research on 22q 11.2 microdeletion accompanied with congenital heart disease[J]. 中国当代医药, 2017, 24(15): 62-65.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2017/V24/I15/62

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