Table 3.
VOUS in foetuses with isolated absent or hypoplastic nasal bone.
| NO | MA | GA | Ultrasonic diagnosis | trimester of ultrasonic diagnosis | CMA | Size of CNVs | Outcomes |
|---|---|---|---|---|---|---|---|
| 1 | 27 | 24 | ANB | Second trimester | 12q21.31(83,844,899–86,010,755)×3, | 2.17 Mb | TOP |
| Xp22.31p22.2(9,219,703–10,190,141)×2 | 970 kb | ||||||
| 2 | 26 | 24 | ANB | Second trimester | 5q23.1(118,643,271–119,998,736)×3 | 1.3 Mb | Inherited from father, eutocia section at 39 + 2w, female, 3.0 kg |
| 3 | 26 | 25 | HNB | Second trimester | 8q24.11(118,170,260–118,875,304)×3 | 705 kb | Inherited from father and mother, eutocia section at 39 + 5w, male, 3.35 kg |
| Xp11.22(52,341,517–52,911,475)×0 | 570 kb | ||||||
| 4 | 26 | 24 | HNB | Second trimester | 16p13.11(15,481,747–16,309,046)×3 | 827 kb | Eutocia section at 37 + 3w, male, 2.7 kg |
Abbreviations: MA: mean maternal age at the invasive prenatal diagnosis was performed; GA: gestational age at the invasive prenatal diagnosis was performed; ANB: absent nasal bone; HNB: hypoplastic nasal bone; TOP: termination of pregnancy.