Table 3. Incidence of chromosomal defects in fetuses with increased nuchal translucency thickness.
Chromosomal aberrations | Case number | Proportion (%) |
1. Autosomal aneuploidy | 399 | 71.3 |
Triploidy | 1 | 0.2 |
Trisomy 21 | 302 | 53.9 |
Trisomy 18 | 68 | 12.1 |
Trisomy 13 | 19 | 3.4 |
Mosaicism | 2 | 0.4 |
Other chromosomes | 7 | 1.3 |
2. Sex aneuploidies | 35 | 6.2 |
45, X | 13 | 2.3 |
47, XXY | 3 | 0.5 |
47, XXX | 7 | 1.3 |
47, XYY | 4 | 0.7 |
Mosaicism | 8 | 1.4 |
3. Structural rearrangements | 125 | 22.5 |
Reciprocal translocation | 9 | 1.6 |
Robertsonian translocation | 15 | 2.7 |
Der translocation | 5 | 0.9 |
Inversion | 16 | 2.9 |
Deletion | 5 | 0.9 |
Duplication | 0 | 0.0 |
Insertion | 4 | 0.7 |
Marker chromosomes | 2 | 0.4 |
Polymorphism | 58 | 10.4 |
Mosaicism | 11 | 2.0 |
Total | 560 | 100 |