Table 4 Submicroscopic aberrations with clinical relevance by SNP array analysis.
Case number | Ultrasound findings | Gestational age at FGR first diagnosed (weeks) | Karyotyping results | CMA results | Type of aberration/size | Inheritance | Related syndrome/pathogenic classification | Pregnancy outcome |
|---|---|---|---|---|---|---|---|---|
1 | FGR, VSD | 17 | 46,XY | arr[GRCh37] 3q26.33q27.2(182,374,672–185,041,523) × 1 | del/2.6 Mb | De novo | Pathogenic | TOP |
2 | FGR, VSD, pulmonary valve stenosis with tricuspid valve insufficiency | 21 | 46,XX | arr[GRCh37] 15q24.1q24.2(72,965,465–75,567,135) × 1 | del/2.6 Mb | De novo | 15q24 Microdeletion Syndrome/Pathogenic | TOP |
3 | FGR, aortic coarctation, increased cardiothoracic ratio, pericardial effusion, fetal NF thickening, fetal spinal curvature increased | 21 | 46,XY,inv(11)(p15q21)dn | arr[GRCh37] 5q22.3q23.1(113,627,122–116,240,273) × 1, 8q21.11q21.13(74,350,927–81,710,386) × 1 | 5: del/2.6 Mb 8: del/7.3 Mb | De novo | 8q21.11 Microdeletion Syndrome/Pathogenic | Still birth |
4 | FGR, VSD, aortic stenosis; Hypoplastic or absent left kidney | 23 | 46,XY | arr[GRCh37] 16q23.2q24.3(79,800,878–90,146,366) hmz, 16p13.3p12.3(94,807–19,302,326) hmz [upd(16)mat] | LOH/10.3 Mb, 19.2 Mb | De novo | Pathogenic | TOP |
5 | FGR,VSD | 31 | 46,XY | arr[GRCh37] 22q11.21(18,648,855–21,800,471) × 1 | del/3.1 Mb | De novo | DiGeorge Syndrome or velocardiofacial syndrome /Pathogenic | TOP |
