Table 1.
Karyotypes of Maternal Plasma Samples Analyzed by MPS
| Sample ID | Specimen | Procedure | Karyotype |
|---|---|---|---|
| AL1893 | chorionic villi | metaphase and 20q12 FISH | 47,XX,+20 |
| BE3096 | cultured villi | metaphase, 6q12, 6q16.3 FISH, and microarray | arr 6q12q16.3(64,075,795-101,594,105)x3, 6q16.3(102,176,578-102,827,691)x3 |
| BF3404 | chorionic villi | metaphase | 46,XY,del(7)(q36.1) |
| AK1604 | amniocytes | metaphase and 22q FISH | 46,XX,del(8)(p23.1p23.2) |
| BE3236 | chorionic villi | metaphase and Chr 15 FISH | 45,XX,-15,der(21)t(15;21)(q15;p11.2) |
| AF1019 | amniocytes | metaphase | 46,XY,add(10)(q26) |
| BC2659 | amniocytes | metaphase | 46,XX,add(X)(p22.1) |
| AL1873 | amniocytes | metaphase and FISH | 46,XY or 46,XY,add(15)(p11.2) |
| BE3129 | amniocytes | metaphase | mos 46,XY,+i(20)(q10)[8]/46,XY[17] |
| BG3701 | chorionic villi | metaphase and FISH | 47,XY,+der(14 or 22)[10]/46,XY[10] |
| AH1200 | chorionic villi | metaphase | 47,XX+mar[12]/46,XX[8] |
The last four samples have mosaic karyotypes.