1.Department of Gynaecology & Obstetrics, Chinese Academy of Medical Sciences, Peking Union Medical College, Peking Union Medical College Hospital, Beijing 100730, China; 2. Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100123,China;3 .Department of Gynaecology & Obstetrics, Peking University Third Hospital, Beijing 100191, China; 4.Department of Gynaecology & Obstetrics, Peking University First Hospital, Beijing 100034, China ; 5. Department of Gynaecology & Obstetrics, Peking University People’sHospital, Beijing 100044, China; 6. Department of Gynaecology & Obstetrics, Chinese PLA General Hospital, Beijing 100853, China; 7. Be Creative Lab(Beijing) Co. Ltd, Beijing 100176, China
Abstract: 【Abstract】 Objective To explore the significance and limitation of chromosomal microarray analysis (CMA) in the prenatal diagnosis of isolated congenital heart disease (CHD). Methods From November 2014 to April 2017, 104 cases with isolated CHD were recruited prospectively from municipal prenatal diagnosis center of Peking Union Medical College Hospital, Beijing Obstetrics and Gynecology Hospital, Peking University Third Hospital, Peking University First Hospital, Peking University People's Hospital and Chinese PLA General Hospital by ultrasound screening during the second trimester and extracardiac malformations were excluded. The cases were underwent the amniocentesis or cordocentesis to detect their karyotyping and ?uorescent in situ hybridization(FISH) , additional 10ml amniotic ?uid or 2 ml cord blood was obtained and DNA was extracted for detecting genome-wide CMA. Cardiac ultrasound was followed up after birth in those who continued pregnancy, patients who terminated pregnancy were advised to accept pathology examination for confirming the cardiac malformations. Results Genome-wide scan of 104 isolated CHD cases showed that copy number variant (CNV) was not found in 72 cases (69.2%,72/104). CNV was found in 32 cases (30.8%,32/104), including 3 benign CNV (2.9%,3/104), 10 pathologic CNV (9.6%,10/104),19 CNV of unknown significance (VOUS) (18.3%,19/104). In the 19 VOUS cases, 3 were likely pathologic, 16 were unknown significance. In all the 104 isolated CHD, the top-six of heart deformity composition ratio was 16 ventricular septal defect (15.4%), 15 tetralogy of fallot (14.4%), 6 single ventricle (5.8%), 6 pulmonary valve stenosis (5.8%), 5 transposition of the great arteries (4.8%), 5 hypoplastic left heart (4.8%). Conclusions CMA can improve the detection rate of genetic pathogeny for the fetuses with isolated CHD. Genetic test should be detected to exclude associative and synthetical CHD of prenatal diagnosis.
2019, Vol. 7 
