Table 2.
SNP Array Findings in Fetuses
| Group | Fetus No. | Ultrasound Findings | SNP Array Findings (NCBI build37(hg19)) | Type of CNVs | Fragment Size (Mb) | Pregnancy Outcomes |
|---|---|---|---|---|---|---|
| Single cardiac malformation | 1 | Ventricular septal defect | arr[hg19]3q29(195,743,957–197,386,180) ×3 | Pathogenic | 1.6 | Induction of labor |
| 2 | Lack of clear continuity in the membranous part of interventricular septum | arr[hg19] 16p11.2(29,580,020–30,30 2,348) ×3 | Pathogenic | 0.7 | Induction of labor | |
| 3 | Ventricular septal defect | arr[hg19]Xq28(152,713,658–153,421,838)×3 | Pathogenic | 0.7 | Induction of labor | |
| 4 | Pulmonary artery dilation after stenosis | arr[hg19]18q23(73,969,018–78,013,728)x1,22q13.33(49,571,996–51,197,766) ×3 | Pathogenic | 1.6 | Induction of labor | |
| 5 | Ventricular septal defect | arr[hg19]9q21.33q22.1(89,868,507–90,975,015) ×3 | VOUS | 1.1 | Birth, good growth and development | |
| 6 | Ventricular septal defect | arr[hg19]16p13.11(14,897,401–16,534,031) ×1 | VOUS | 1.6 | Birth, good growth and development | |
| Multiple cardiac malformation | 7 | Ventricular septal defect, right aortic arch and U-shaped vascular ring | arr[hg19]22q11.21(18,648,855–21,800,471) ×1 | Pathogenic (22q11.2 microdeletion syndrome) | 3.1 | Induction of labor |
| 8 | Aortic stenosis, ventricular septal defect and interruption of the aortic arch (type B) | arr[hg19] 22q11.21(18,631,364–21,800,471) ×1 | Pathogenic (22q11.2 microdeletion syndrome) | 3.1 | Induction of labor | |
| 9 | Ventricular septal defect, mirror right aortic arch and right artery catheterization | arr[hg19] 22q11.21(18,916,842–21,800,471) ×1 | Pathogenic (22q11.2 microdeletion syndrome) | 3.1 | Induction of labor | |
| 10 | Foramen ovale valve aneurysm, smaller left heart than right heart, small ascending aorta and aortic arch | arr[hg19]22q11.21(18,649,189–21,800,471)×3 | Pathogenic (22q11.2 microduplication syndrome) | 3.1 | Induction of labor | |
| 11 | Ventricular septal defect, aorta overriding and pulmonary artery stenosis | arr[hg19] 8p22(17,179,780–18,518,478) ×3 | Pathogenic | 1.3 | Induction of labor | |
| 12 | Right aortic arch with mirror-image branching and right artery catheterization | arr[hg19]17p11.2(16,615,982–18,922,171) ×3 | Pathogenic (17p11.2 microduplication syndrome) | 2.3 | Induction of labor | |
| 13 | Right dominant heart and persistent right umbilical vein | arr[hg19]1q21.1q21.2(145,084,525–147,885,600) ×1 | Pathogenic | 2.8 | Induction of labor | |
| 14 | Narrow right ventricle, tricuspid valve stenosis and insufficiency, pulmonary artery stenosis, and reverse supply of arterial arch blood flow to left and right pulmonary arteries (hypoplastic right heart) | arr[hg19]1q21.1q21.2(145,995,176–147,398,268) ×3 | VOUS | 1.4 | Induction of labor | |
| 15 | Childbearing history of tetralogy of Fallot, ventricular septal defect, enlargement of the foramen ovale | arr[hg19]2q31.2q31.3(180,558,684–181,901,189) ×3 | VOUS | 1.3 | Birth, ventricular septal defect and surgical repair | |
| 16 | Ventricular septal defect, aorta overriding, moderate stenosis of pulmonary artery, and right aortic arch with mirror-image branching | arr[hg19]15 q13.3(32,003,537–32,444,043) ×3 | VOUS | 0.4 | Induction of labor | |
| Cardiac and extracardiac malformations | 17 | Fetal growth restriction and ventricular septal defect | arr[hg19]22q11.21(18,648,855–21,800,471) ×1 | Pathogenic (22q11.2 microdeletion syndrome) | 3.1 | Induction of labor |
| 18 | Fallot’s malformation and thymic hypoplasia | arr[hg19]22q11.21(18,648,855–21,800,471) ×1 | Pathogenic (22q11.2 microdeletion syndrome) | 3.1 | Induction of labor | |
| 19 | Ventricular septal defect, aorta overriding, pulmonary artery stenosis, few pericardial effusion, separation of bilateral renal pelvis, persistent right umbilical vein and conusmedullaris level at L4 | arr[hg19] 22q11.21(18,631,364–21,800,471) ×1 | Pathogenic (22q11.2 microdeletion syndrome) | 3.1 | Induction of labor | |
| 20 | Anterior nasal skin thickening,left axis deviation of the heart, and ventricular septal defect | arr[hg19] 2q37.3(241,000,861–242,782,258) ×1, 22q13.2q13.33(41,122,658–51,197,766) ×3 | Pathogenic | 1.8 | Induction of labor | |
| 21 | Ventricular septal defect, enlargement of the atrium dextrum and vetrauriculadextra, persistent left superior vena cava, vagus of the right subclavian artery, Blake’s pouch cyst and fetal nuchal fold thickening | arr[hg19] 2q13(111,397,196–113,111,856) ×1 | Pathogenic | 1.7 | Induction of labor | |
| 22 | Fetal growth restriction and pulmonary valve stenosis | arr[hg19]4p16.3 p16.1(68,345–6,608,624) ×1 | Pathogenic | 6.5 | Induction of labor | |
| 23 | Ventricular septal defect and left renal agenesis | arr[hg19]7q11.23(72,701,098–74,069,645) ×3 | Pathogenic | 1.3 | Induction of labor | |
| 24 | Wider fetal pulmonary artery than aorta, fetal nuchal fold thickening | arr[hg19] 7q11.23(72,713,282–74,154,209) ×1 | Pathogenic | 1.4 | Induction of labor | |
| 25 | Ventricular septal defect, brain dysplasia and Dandy–Walker malformation | arr[hg19]15q11.2(22,770,421–23,277,436) ×1 | Pathogenic | 0.5 | Induction of labor | |
| 26 | Fetal growth restriction, ventricular septal defect, nasal bone hypoplasia, pulmonary artery valve stenosis and insufficiency | arr[hg19]15 q24.1q24.2(72,965,465–75,567,135) ×1 | Pathogenic | 2.6 | Induction of labor | |
| 27 | Ventricular septal defect, aorta overriding, pulmonary artery stenosis, single umbilical artery | arr[hg19]16p12.3(19,333,917–20,487,932) ×1 | Pathogenic | 1.1 | Induction of labor | |
| 28 | Dilation of lateral ventricle, fetal growth restriction, ventricular septal defect, persistent left superior vena cava | arr[hg19]16p13.3(85,880–536,631) ×1 | Pathogenic | 0.4 | Induction of labor | |
| 29 | Fetal growth restriction, persistent left superior vena cava, narrowing of the interior diameter of the aortic arch, slightly enhanced echo of the bilateral renal parenchyma, battledore-like placenta, placental thickening and placental blood pool | arr[hg19]2p25.3p11.2(50,813–87,053,152)hmz, 2q11.1q37.3(95,550,957–242,773,583) hmz | Pathogenic | h UPD |
Induction of labor | |
| 30 | Fetal growth restriction, ventricular septal defect, aortic stenosis, hypoplasia or agenesis of the left kidney, echogenic bowel | arr[hg19]16q23.3q24.3(79,800,878–90,146,366)hmz, 16p13.3p12.3(94,807–19,302,326)hmz | Pathogenic | UPD | Induction of labor | |
| 31 | Ventricular septal defect and fetal growth restriction | arr[hg19]4q24(106,284,925–107,545,257) ×3 | VOUS | 1.2 | Birth, ventricular septal defect, surgical repair | |
| 32 | Ventricular septal defect, right hydronephrosis, broadening of the left ventricle and broadening of the cerebellomedullary cistern | arr[hg19]11p15.1p14.3(20,745,930–21,780,075) ×3 | VOUS | 1.0 | Induction of labor |
Abbreviations: VOUS, variant of unknown significance; CNV, copy number variation.