Diagnosing technique research on 22q 11.2 microdeletion accompanied with congenital heart disease
JIANG Hua-jing1 CHEN Jing1 LIN Li-xuan1 XIONG Jian1 QI Fang1 HU Zhi-yang2▲
1.Department of Ultrasonography,Shenzhen People′s Hospital in Guangdong Province,Shenzhen 518000,China;
2.Department of Obstetrics,Shenzhen People′s Hospital in Guangdong Province,Shenzhen 518000,China
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.
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