Table 6.
Summary of cases with different results from chromosome karyotype analysis and CMA
| Findings on ultrasound | Chromosome karyotype analysis | CMA | |
|---|---|---|---|
| 1 | NT 3.0 mm | 46,XX, t(11;19)(q25;p13.1)dn | Normal |
| 2 | NT 3.3 mm | 46,XY, t(3;12)(q26.2;q13)dn | Normal |
| 3 | NT3.5 mm | 45,XY, rob(14;15)(q10;q10) | Normal |
| 4 | Echogenic intracardiac focus, echogenic bowel | 46,XX, t(11;22)(q25;q13.1) | Normal |
| 5 | Aberrant right subclavian artery | 46,XX, t(10;13)(q21.2;q32)dn | Normal |
| 6 | Echogenic intracardiac focus | mos45,X[2]/47,XXX[2]/46,XX[57] | Normal |
| 7 | Absent nasal bone | 46,XX, rob(13;21)(q10;q10),+21 | arr(21)×3 |
| 8 | NT 3.5 mm | 46,XX, rob(13;21)(q10;q10)mat,+21 | arr(21)×3 |
| 9 | Tricuspid regurgitation | Normal | arr[GRCh37]16p13.12p13.11(14780640–16527659)x1 |
| 10 | NT 3.8 mm | Normal | arr[GRCh37]3q29(195718751–197386180)x1 |
| 11 | NT 5.3 mm | Normal | arr[GRCh37]16p11.2(29567296–30190029)x1 |
| 12 | NT 3.4 mm | Normal | arr[GRCh37]16p11.2(29351826–30190029)x1 |
| 13 | NT 3.2 mm | Normal | arr[GRCh37]15q11.2(22582283–23060000)x1 |
| 14 | Absent nasal bone | Normal | arr[GRCh37]Xp22.31(6537109–8167604)x1 |
| 15 | Tricuspid regurgitation | 47,XX,+mar | arr[GRCh37]12p13.33p11.23(173786-27350550)x4 |
| 16 | Choroid plexus cyst | Normal | arr[GRCh37]16p13.11(15077292–16178545)x3 |
| 17 | Choroid plexus cyst | Normal | arr[grch37]16p13.11(14892976–16517413)x4 |
| 18 | Absent nasal bone | 47,XX,+21 | arr[GRCh37]17q12(36466620–37940921)x3,(21)×3 |