TABLE 3.
Case | Fetal karyotypes | Placental tissue analysis | Pregnancy results | False negative reasons |
Case 1 | 46, XY, +21, [rob (21;21) (q10;q10)] | N/A | TOP, male | Uncertain |
Case 2 | 47, XY, +21 | N/A | Born, male | Borderline unique reads |
Case 3 | 47, XY, +18 | N/A | TOP, male | Uncertain |
Case 4 | 47, XY, +21 | N/A | Born, male | Uncertain |
Case 5 | 47, XX, +18 | N/A | Born, female | Uncertain |
Case 6 | 47, XY, +21 | N/A | TOP, male | Uncertain |
Case 7 | 47, XY, +18 | Placental-fetal side: 47, XY, +18 Placental-maternal: 45, XY, −18 | TOP, male | CPM |
Case 8 | 47, XY, +21 | Placental-fetal side: 46, XY; Placental-maternal side: 46, XY/69, XXY; Umbilical cord: 47, XY, +21 | TOP, male | CPM |
Case 9 | 47, XY, +18 | N/A | Left: born, male; Right: TOP, male | Twin pregnancy low fetal fraction |
BMI, body mass index; CPM, confined placental mosaicism; N/A, not applicable; TOP, termination of pregnancy.