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 Table 2 – Copy-number variations (CNVs) in 362 fetuses with congenital heart disease (CHD) Patient Cardiac defect Extra-cardiac defect CNVs Size (Mb) Known syndrome/candidate genes related to CHD Classification 1 persistent left superior vena cava Intrauterine growth retardation 15q13.2q13.3(30940398-32515681)x1 10.0 Angelman/Prader-Willi syndrome pathogenic 2 persistent left superior vena cava, single umbilical artery arr16p11.2(29614976-30199805)x1~2 0.5 16p11.2-p12.2 microdeletion syndrome pathogenic 3 pulmonary stenosis arr16q21q24.3(63,863,382-90,130,136)x2~3 26.3 16q24-triplication syndrome pathogenic 4 complete-type endocardial cushion defect arr1q21.1q21.2(146,501,348-147,828,939)x1 1.3 Thrombocytopenia-absent radius (TAR) syndrome pathogenic 5 ventricular septal defect Short limbs arr3q21.1q29(123031042-198022430)x2~3 75.0 3q29 microduplication syndrome pathogenic 6 tetralogy of fallot arr22q11.21(18877787-21458625)x1 2.6 DiGeorge syndrome pathogenic 7 tetralogy of fallot arr22q11.21(18889490-21460220)x1 2.6 DiGeorge syndrome pathogenic 8 right aortic arch, persistent left superior vena cava arr22q11.21(18895703-21928916)x1 3.0 DiGeorge syndrome pathogenic 9 tetralogy of fallot, absent pulmonary valve arr 22q11.21(18844632-21462353)x1 2.6 DiGeorge syndrome pathogenic 10 single umbilical artery arr 11q24.1q25(123615329-1349444006)x1 11.3 Jacobsen syndrome pathogenic 11 endocardial cushion defect, single atrium arr10q26.13q26.3 (126254468-135430043)x3, arr11q24.1q25(122805910-134944006)x1 9.2; 12.1 Jacobsen syndrome pathogenic 12 Atria septal defect arr 10p15.1p12.31(6085312-21544231)x1 15 CACNB2 likely pathogenic 13 ventricular septal defect arr 5q11.2q12.1(56368573-61428613)x1 5.1 likely pathogenic 14 ventricular septal defect, atrial septal defect arr21q11.2q21.1(14687571-18341062)x1 3.7 DiGeorge syndrome pathogenic 15 ventricular septal defect fetal cystic hygroma arr22q11.21(21050552-21811991)x1 0.7 DiGeorge syndrome pathogenic 16 ventricular septal defect arr22q11.21(20740778-21445064)x1 0.7 DiGeorge syndrome pathogenic 17 tetralogy of fallot, thymic hypoplasia Intrauterine growth retardation arr22q11.21(18895703-21452237)x1 2.6 DiGeorge syndrome pathogenic 18 pulmonary valve stenosis, aortic coarctation ventricular septal defect arr11q23.3q25(116728277-134944006)x3; arr22q11. 1q11.21(16079545-20306993)x3 18 22q11 duplication syndrome pathogenic 19 ventricular septal defect, Small left heart Intrauterine growth retardation arr5p15.33p15.1(354051-17484038) x1,5q34q35.3(165731079-180705539)x3 17.1; 15.0 Cri du chat syndrome pathogenic 574