Table 6.
CRITO validation results and sonographic findings in seven mosaicism (Mo) cases.
|
|
Case | GA (Week + Day) for US and CVS |
CVS | AC | CRITO–NIPT | Fetal Ultrasonography | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| QF–PCR | Uncultured FISH Aneuploidy (%) | G–Band Karyotype |
Uncultured FISH Aneuploidy (%) | G–Band Karyotype |
Result | Z–Score | Increased NT | NT Thickness (mm) |
Sonographic Findings | |||
| Chromosome 21 relevant mosaicism | Mo1 | 13 + 3 | XY,+21 Mosaicism | T21 (96%) | 47,XY,+21 (100%) |
– | – | T21 positive | 22.05 | + | 4.6 | Increased NT, GE very mild, Micrognathia, Lowset ear, DS like profile, Large VSD, TR moderate, Hyperechoic bowel, DV reverse, Tachycardia, Straight cord, T21 is strongly suspected |
| Mo2 | 13 + 2 | XX,+21 Mosaicism | Tetrasomy 21 (20%) | 49,XX,+7,+21,+21 /46,XX (72%/28%) |
– | – | T21 Negative | 1.11 | – | 2.1 | Small NB, Lowset ear, TR moderate | |
| Mo3 | 13 + 0 | XXY | T21 (2%) | 47,XXY /48,XXY,+21 (62%/38%) |
T21 (2%) | 47,XXY | T21 Negative | –0.48 | + | 3.4 | Increased NT, Small NB, TR mild, SUA, Genetic disorder is suspected | |
| Mo4 | 13 + 3 | XX,+21 Mosaicism | M21 (72%) T21 (8%) |
45,XX,–21 (100%) |
M21 (1%) T21 (91%) |
46,XX,i(21)(q10) | T21 positive | 10.87 | + | 5.2 | Increased NT, Small NB, Micrognathia, Lowset ear, TR mild, DV defect, T21 is strongly suspected | |
| Chromosome 18 relevant mosaicism | Mo5 | 13 + 5 | XX,+18 Mosaicism | T18 (56%) | 47,XX,+18/46,XX (44%/56%) |
– | – | T18 Negative | 2.09 | + | 8.3 | Increased NT, GE moderate, Small NB, Micrognathia, Lowset ear, T18 like profile, Wrist contracture bilateral, Cardiomegaly, Large VSD, TR severe, MR severe, Stomach invisible, Hyperechoic bowel, DV reversed flow, SUA, Umb.A.reverse, T18 is strongly suspected, |
| Mo6 | 13 + 0 | XY,T18 Mosaicism | T18 (88%) | 47,XY,+18 (100%) |
– | – | T18 positive | 7.05 | + | 2.9 | Increased NT, NB defect, T18 like profile, Micrognathia, Lowset ear, Hypoplastic ear, Wrist contracture bilateral, Contracted lower extremities, Club foot (right), s/o DORV, RV>LV, TR moderate–severe, Omphalocele containing only bowel, DV reversed flow, FGR, T18 is strongly suspected | |
| Chromosome 13 relevant mosaicism | Mo7 | 12 + 3 | Normal XY | T13 (6%) | 46,XY (100%) |
T13 (0%) | T13 (0%) | T13 Negative | 1.25 | – | 2.0 | TR mild |
GA; gestational age, CVS; chorionic villus sampling, AC; amniocentesis, NT; nuchal translucency, NB; nasal bone, GE; general edema, DS; Down syndrome, VSD, ventricular septal defect, TR; tricuspid regurgitation, DV; ductus venosus, SUA; single umbilical artery, MR; mitral regurgitation, Umb.A; umbilical artery, DORV; double outlet right ventricle, RV; right ventricle, LV; left ventricle, FGR; fetal growth restriction, T21; trisomy 21, M21; monosomy 21, T18; trisomy 18, T13; trisomy 13.