Table 2 SNP-array results of fetal FGR with normal karyotype analysis
Case | SNP array locus | Size (Mb) | Prenatal ultrasound | Pathogenicity classification | Postnatal outcome | Inheritance |
|---|---|---|---|---|---|---|
1 | arr[hg19]7q11.23(72,723,370–74,143,240) × 1 | 1.4 | FGR | P | TP | – |
2 | arr[hg19]15q14q21.3(35,077,111–54,347,324)hmz | 19.2 | FGR, polyhydramnios | P (Prader-Willi) | TP | UPD (Maternal) |
3 | arr[hg19]10q11.22q11.23(46,252,072–51,903,756) × 1 | 5.6 | FGR, echogenic bowel | P | TP | de novo |
4 | arr[hg19]8q11.23q12.1(54,456,444–59,599,862) × 1 | 5.1 | FGR, single umbilical artery, oligohydramnios | Likely P | TP | – |
5 | arr[hg19]6p25.3q27(203,877–170,896,644) × 2 hmz | – | FGR, echogenic bowel, mild tricuspid regurgitation, reverse ductus alpha wave | P | TP | UPD (Paternal) |
6 | arr[hg19]4p16.3p16.1(68,345–6,608,624) × 1 | 6.5 | FGR, pulmonary stenosis | P (Wolf-Hirschhorn) | TP | – |
7 | arr[hg19]15q24.1q24.2(72,965,465–75,567,135) × 1 | 2.6 | FGR, VSD, pulmonary valve stenosis with insufficiency | P (15q24 microdeletion syndrome) | TP | de novo |
8 | arr[hg19]16q23.3q24.3(79,800,878–90,146,366) × hmz,16p13.3p12.3(94,807–19,302,326) × hmz | 10.3 19.2 | FGR, VSD, aortarctia, left kidney dysplasia | Likely P | TP | – |
9 | arr[hg19]22q11.21(18,648,855–21,459,713) × 3 | 2.8 | FGR, intrahepatic portal shunt, umbilical vein tumor like dilatation | P (22q11.21 microduplication) | TP | Maternal |
10 | arr[hg19]22q11.21(18,648,855–21,800,471) × 1 | 3.1 | FGR, VSD | P (22q11.21 microdeletion syndrome) | TP | – |
11 | arr[hg19]17p11.2(16,615,982–18,922,171) × 3 | 2.1 | FGR, VSD | P (Potocki-Lupski) | TP | Maternal |
12 | arr[hg19]2p25.3p11.2(50,813–87,053,152)hmz,arr[hg19]2q11.1q37.3(95,550,957–242,773,583) hmz | – | FGR, persistent left superior vena cava, renal parenchyma echo enhancement | Likely P | TP | UPD (Maternal) |
13 | arr[hg19]22q11.21(18,648,855–21,800,471) × 3 | 3.1 | FGR | VUS | TD | Paternal |
14 | arr[hg19]4q28.3q31.3(133,718,289–154,569,367)hmz | 20.8 | FGR | VUS | TD | – |
15 | arr[hg19]15q24.1q24.2(72,969,435–75,601,120) × 3 | 2.6 | FGR | VUS | TD | Maternal |
16 | arr[hg19]14q12(25,364,014–26,860,808) × 3 | 1.4 | FGR | VUS | TD | – |
17 | arr[hg19]4q24(106,284,925–107,545,257) × 3 | 1.2 | FGR, VSD | VUS | – | – |
18 | arr[hg19]18p11.23p11.22(7,153,845–8,964,650) × 3 | 1.8 | FGR | Likely B | TD | Paternal |
19 | arr[hg19]4q35.2(188,155,530–190,957,460) × 1 | 2.8 | FGR, tricuspid regurgitation | Likely B | TD | Maternal |