The Research Of 22q11.2 Tiny Deficiency Ante-natal Diagnosis Way To Establish And Application In Congenital Heart Disease

Objective: Congenital heart disease (CHD) is the cause of perinatal death and serious birth defects , they have complex etiology. Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is associated with CHD the most common disease of the chromosome. Birth defects caused by 22q11.2DS mainly associated with CHD: tetralogy of Fallot, interrupted aortic, aortic forever dry and ventricular septal defect, the first three are extremely poor prognosis . So far there were no effective treatment for genetic diseases, accurate prenatal diagnosis is of great significance. This article aiming to amniotic fluid cells using fluorescence in situ hybridization (FISH) technology, explore 22q11.2DS related CHD, prenatal diagnosis.Method: (1) By subject into the standard collection of 60 cases: 30 cases of normal control group, 30 cases of fetal heart defects. General information collected cases, signed the informed consent reported to the Hospital Ethics Committee for the record; (2) established testing methods of 22q11.2DS of FISH detection and results of evaluation criterion; (3) Doing amniocentesis to obtain amniotic fluid cells in the control group, for karyotype analysis and 22q11.2DS of FISH detection; (4) 22q11.2DS of FISH detection technology used in prenatal diagnosis of CHD patient group. After induction of fetal tissue pathology, then doing prenatal diagnosis test.Results: (1) he control group of 30 patients: karyotype analysis, FISH and pathological autopsy detected was not found abnormality; (2) Cases of 30 patients: pathological autopsy verified as CHD, karyotype analysis were normal, but FISH were positive in 22 cases, positive rate of 73.33%. Chi-square test and FISH test results pathology results, both positive diagnosis were significantly different, P = 0.008, Kappa value 0.73.Conclusion: (1) Amniotic fluid cells successfully established 22q11.2DS FISH detection method to establish the standard interpretation of FISH results; (2) The use of the detection method of the CHD patient group detection, detection 22q11.2DS positive in 22 cases, the positive rate was 73.33%, related to CHD in 22q11.2DS incidence of line; (3) CHD and 22q11.2DS closely related to antenatal care were found in CHD should undergo 22q11.2DS detection.