Table 7.
Live birth cases with abnormal prenatal diagnostic results
| Findings on ultrasound | Chromosome karyotype analysis results | CMA | |
|---|---|---|---|
| 1 | Increased NT | 47,XXX | arr(X)×3 |
| 2 | Increased NT | 47,XYY[10]/46,XY[11] | arr(1–22)×2,(X)×1,(Y)×2[0.5] |
| 3 | Increased NT | 46,XX, t(11;19)(q25;p13.1)dn | Normal |
| 4 | Increased NT | 47,XYY | arr[GRCh37] Yp11.32q11.223(118551_26192662)x2,Yq11.23(27769668_28799654)x2 |
| 5 | Increased NT | 45,XY, rob(14;15)(q10;q10) | Normal |
| 6 | Echogenic intracardiac focus | 45,X[2]/47,XXX[2]/46,XX[57] | Normal |
| 7 | Echogenic intracardiac focus, echogenic bowel | 46,XX, t(11;22)(q25;q13.1) | Normal |
| 8 | Absent nasal bone | 46,XX | arr[GRCh37] Xp22.31(6537109_8167604)x1 |
| 9 | Aberrant right subclavian artery | 46,XX, t(10;13)(q21.2;q32)dn | Normal |
| 10 | Choroid plexus cyst | 46,XY | arr[GRCh37] 16p13.11(15077292_16178545)x3 |
| 11 | Choroid plexus cyst | 46,XY | arr[GRCh37] 16p13.11(14892976_16517413)x4 |