ABC | Volume 111, Nº4, Octuber 2018

Original Article Luo et al Genetic testing analysis of fetuses with CHD Arq Bras Cardiol. 2018; 111(4):571-577 1. Methlouthi J, Mahdhaoui N, Bellaleh M, Guith A, Zouari D, Ayech H, et al. Incidence of congenital heart disease in newborns after pulse oximetry screening introduction. Tunis Med. 2016;94(3):231-4. 2. Qu Y, Liu X, Jian Z, ChenG, Mai J, Guo X, et al. Incidence of congenital heart disease: the 9-year experience of theGuangdong registry of congenital heart disease, China. Plos One. 2016;11(7):e0159257. 3. SifrimA, HitzMP,WilsdonA, Breckpot J, Turki SH, Thienpont B, et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet. 2016;48(9):1060-5. 4. Kloesel B, DiNardo JA, Body SC. Cardiac embryology and molecular mechanisms of congenital heart disease: a primer for anesthesiologists. Anesth Analg. 2016;123(3):551-69. 5. Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, et al. 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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115(23):3015-38. 18. Soemedi R, Topf A, Wilson I, Darlay R, Rahman T, Glen E, et al. Phenotype- specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. HumMol Genet. 2012;21(7):1513-20. 19. Greenway S, Pereira A, Lin J, DePalma S, Israel S, Mesquita S, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet. 2009;41(8):931-5. 20. Zhang J,MaD,YanW,LiC,YunW,QiaoF,etal.Analysisofchromosome22q11 copynumbervariationsbymultiplexligation-dependentprobeamplificationfor prenataldiagnosisofcongenitalheartdefect.MolCytogenet.2015Dec29;8:100. 21. Lv W, Wang S. Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects. Mol Med Rep. 2014;10(5):2465-70. 22. Liu Z, Wang J, Liu S, Deng Y, Liu H, Li N, et al. Copy number variation of GATA4 andNKX2-5 inChinese fetuses with congenital heart disease. Pediatr Int. 2015;57(2):234-8. References data: Luo S, Li,Q, Chen Y, He C, Xie B, She S, Li Y; Statistical analysis: Meng D, Chen Y, He C; Obtaining financing: Meng D; Writing of the manuscript: Luo S, Li,Q; Critical revision of the manuscript for intellectual content: She S, Li Y, Fu C. Potential Conflict of Interest No potential conflict of interest relevant to this article was reported. Sources of Funding This study was partly funded by the Research and Development Project of Guangxi Medical and Health Technology (S201309_04 and S201611), Guangxi Natural Science Foundation Program (2016GXNSFCA380001) and the Science and Technology project of Guangxi Zhuang Autonomous Region (gui-ke-gong 14124004-1-8). Study Association This study is not associated with any thesis or dissertation work. Ethics approval and consent to participate This study was approved by the Ethics Committee of the Guangxi Maternal and Child Health Hospital under the protocol number 160220. All the procedures in this study were in accordance with the 1975 Helsinki Declaration, updated in 2013. Informed consent was obtained from all participants included in the study. 576