Table 2 Additional aberrations with clinical significance detected by SNP array analysis in 11 cases with normal karyotype
Case number | Ultrasound findings | SNP array results | Inheritance | Associated syndrome and interpretation | Outcomes |
|---|---|---|---|---|---|
20 | FGR, Echogenic bowel | arr[GRCh37] 10q11.21q11.22(42,433,738–48,006,310) × 1 | De novo | LP | TOP |
21 | FGR, Echogenic bowel | arr[GRCh37] 10q11.22q11.23(46,252,072–51,903,756) × 3 | De novo | LP | Live birth, normal development at 3-year-old follow-up |
22 | FGR, Increased nuchal translucency, mild tricuspid regurgitation | arr[GRCh37] 22q11.21(18,648,855–21,459,713) × 3 | Maternal | 22q11.2 microduplication syndrome / LP | Live birth, normal development at 3-year-old follow-up |
23 | FGR | arr[GRCh37] 7q11.23(72,650,120–74,154,209) × 1 | De novo | Williams-Beuren syndrome / P | TOP |
24 | FGR | arr[GRCh37] 16q24.3(89,769,654–89,913,334) × 1 | De novo | Fanconi anemia, complementation group A /P | Live birth. The infant suffered craniocerebral hemorrhage during term delivery, and rehabilitation treatment was performed for two years after birth. Her current development are close to normal |
25 | FGR, Increased nuchal translucency, echogenic intracardiac focus, mild tricuspid regurgitation | arr[GRCh37] Xp22.31(6,455,151–8,135,568) × 0 | De novo | X-linked Ichthyosis / P | TOP |
26 | FGR, Echogenic intracardiac focus | arr[GRCh37] 7q11.23(72,659,097–74,207,565) × 1 | De novo | Williams-Beuren syndrome/ P | TOP |
27 | FGR, Single umbilical artery, oligohydramnios | arr[GRCh37] 8q11.23q12.1(54,456,444–59,599,862) × 1 | De novo | LP | TOP |
28 | FGR, Echogenic bowel, mild tricuspid regurgitation | arr[GRCh37] 6p25.3q27(203,877–170,896,644) × 2 hmz | NA | P | TOP |
29 | FGRa | Amniotic fluid at 20th gestational week: arr[hg19] 2p25.3q37.3(12,770–242,782,258) × 2–3 Cord blood at 28th gestational week: arr[GRCh37] 2p25.3p11.2(50,813–87,053,152) hmz 2q11.1q37.3(95,550,957–242,773,583) hmz | De novo | P | Premature birth, normal development at 3-year-old follow-up |
30 | FGRb | arr[GRCh37] (22) × 2 ~ 3 | De novo | P | TOP |