Table 2 Summary of the results of the different tissues
Fetal samples | Chorionic villus sampling | Amniocentesis | ||
|---|---|---|---|---|
Uncultured cells | Cultured cells | Uncultured cells | Cultured cells | |
QF-PCR | Mosaic trisomy 21 | - | Trisomy 21 | – |
aCGH | – | Duplication of 10p11.21pter | Duplication of 21 | – |
Karyotype | – | 46,XY,der(21)t(10;21)(p11.21;q10) | – | 46,XY, + 21,der(21;21)(q10;q10) |
Maternal samples | Blood | Skin |
|---|---|---|
NIPT | Increased risk for trisomy 21 | – |
QF-PCR | Normal | – |
aCGH | Normal | Normal |
Karyotype | 46,XX | 46,XX |