ABC | Volume 111, Nº4, Outubro 2018

Artigo Original Luo et al Análise de testes genéticos de fetos com CC Arq Bras Cardiol. 2018; 111(4):571-577 Este é um artigo de acesso aberto distribuído sob os termos da licença de atribuição pelo Creative Commons 9. Song M, Hu A, Dyamenahalli U, Chitayat D, Winsor E, Ryan G, et al. Extracardiac lesions and chromosomal abnormalities associatedwithmajor fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses. Ultrasound Obstet Gynecol. 2009;33(5):552-9. 10. Mademont-Soler I, Morales C, Soler A, Martínez-Crespo JM, Shen Y, Margarit E, et al. Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: evaluation of chromosomal microarray-based analysis. Ultrasound Obstet Gynecol. 2013;41(4):375-82. 11. South S, Lee C, Lamb AN, Higgins AW, Kearney HM;Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med. 2013;15(11):901-9. 12. Grati F, Molina Gomes D, Ferreira JC, Dupont C, Alesi V, Gouas L, et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn. 2015;35(8):801-9. 13. Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, et al. Segmental duplications and copy-number variation in the human genome. Am J HumGenet. 2005;77(1):78-88. 14. McCarroll SA, Altshuler DM. Copy-number variation and association studies of human disease. Nat Genet. 2007;39(7 Suppl):S37-42. 15. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013;112(4):707-20. Erratum in: Circ Res. 2013;112(12):e182. 16. Soemedi R, Wilson I, Bentham J, Darlay R, Töpf A, Zelenika D, et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J HumGenet. 2012;91(3):489-501. 17. Pierpont M, Basson C, Benson D, Gelb B, Giglia T, Goldmuntz E, et al; American Heart Association Congenital Cardiac Defects Committee, Council onCardiovascular Disease in the Young. 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. 23. LiaoC, Li R, Fu F, XieG, Zhang Y, PanM, et al. Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array. Prenat Diagn. 2014;34(9):858-63. 24. Bao B, Wang Y, Hu H, Yao H, Li Y, Tang S, et al. Karyotypic and molecular geneticchangesassociatedwithfetalcardiovascularabnormalities:resultsofa retrospective4-yearultrasonicdiagnosisstudy.IntJBiolSci.2013;9(5):463-71. 25. Steele MW. Letter: chromosome analysis of human amniotic-fluid cells. Lancet. 1974;2(7890):1210. 26. Wei YJ, Liu BM, Zhou YH, Jia XH, Mu SG, Gao XR, et al. Spectrum and features of congenital heart disease in Xi’an, China as detected using fetal echocardiography. Genet Mol Res. 2014;13(4):9412-20. 27. Liu X, Yagi H, Saeed S, Bais AS, Gabriel GC, Chen Z, et al. The complex genetics of hypoplastic left heart syndrome. Nat Genet. 2017;49(7):1152-9. 28. Digilio MC, Marino B. What is new in genetics of congenital heart defects? Front Pediatr. 2016 Dec 1;4:120. 29. Simeone RM, Tinker SC, Gilboa SM, Agopian AJ, Oster ME, DevineOJ, et al; National Birth Defects Prevention Study. Proportion of selected congenital heart defects attributable to recognized risk factors. Ann Epidemiol. 2016;26(12):838-45. 30. Jansen FA, Hoffer MJ, van Velzen CL, Plati SK, RijlaarsdamME, Clur SA, et al. Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects. Prenat Diagn. 2015;36(2):177-85. 31. Bellucco FT, Belangero SI, Farah LM, Machado MV, Cruz AP, Lopes LM, et al. Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography. Pediatr Cardiol. 2010;31(8):1146-50. 577