22q 11.2微缺失伴先天性心脏病的诊断技术研究

Diagnosing technique research on 22q 11.2 microdeletion accompanied with congenital heart disease

目的探讨荧光原位杂交技术(FISH)联合超声心动图对诊断22q 11.2微缺失伴先天性心脏病的临床价值。方法于2013年1月~2014年12月选择62名具有高危妊娠指征的孕妇,应用FISH技术检测22q 11.2微缺失,并以超声心动图明确诊断。结果 FISH检出5例22q 11.2微缺失,超声心动图检查结果 3例为法洛四联症,2例为室间隔缺损。57例无22q 11.2微缺失的胎儿超声心动图检查结果三尖瓣轻度反流2例、肺动脉狭窄2例、动脉导管未闭1例。22q 11.2微缺失组与无微缺失组胎儿超声心动图表现异常率分别为100.00%和8.77%,差异有统计学意义(χ~2=28.28,P<0.01)。结论 FISH技术检测胎儿22q 11.2微缺失,并配合超声心动图对心脏畸形进行明确检查,临床应用价值较高,值得推广应用。

Objective To 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）.Methods A 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.Results Five 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 pul- monary stenosis and 1 fetus with patent duetus 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 （X2=28.28,P〈0.01）.Conclusion Detecting 22q 11.2 mi- crodeletion with FISH technique and diagnosing clearly CHD with ultrasonic cardiogram has high clinical application value and it is worthy of clinical promotion and application.