Table 2 CNV-seq analysis results
From: Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
Patient | Experiment number | Subject | Sample type | CNV-seq results | Karyotype | ||
|---|---|---|---|---|---|---|---|
Chromosome 2 Z scores | Chromosome 21 Z scores | Speculated chimeric proportion of T21 | |||||
Case 1 | 1 | Patient himself | Peripheral blood | − 1.287 | − 1.545 | 46,XX | 46,XX |
2 | Center of maternal side | Placental tissue | − 0.224 | 26.864 | 47,XX, + 21[28%] | – | |
3 | Middle of maternal side | Placental tissue | 0.275 | 16.952 | 47,XX, + 21[18%] | – | |
4 | Edge of maternal side | Placental tissue | − 1.128 | 20.968 | 47,XX, + 21[22%] | – | |
5 | Center of fetal side | Placental tissue | − 0.412 | − 1.901 | 46,XX | – | |
6 | Middle of fetal side | Placental tissue | 1.302 | 83.744 | 47,XX, + 21[88%] | 46,XX, + 21,der(21;21)(q10;q10) [86]/46,XX[14] | |
7 | Edge of fetal side | Placental tissue | − 0.106 | 12.236 | 47,XX, + 21[13%] | – | |
8 | Root of umbilical cord | Umbilical cord tissue | 0.355 | 88.798 | 47,XX, + 21[93%] | – | |
9 | Amniotic fluid | Amniotic fluid | – | – | – | 46,XX, + 21,der(21;21)(q10;q10) | |
Case 2 | 1 | Center of maternal side | Placental tissue | − 1.731 | 28.879 | 47,XY, + 21[30%] | – |
2 | Middle of maternal side | Placental tissue | 19.806 | 16.314 | 47,XY, + 21[17%]/47,XY, + 2[10%] | – | |
3 | Edge of maternal side | Placental tissue | − 0.576 | 20.569 | 47,XY, + 21[21%] | – | |
4 | Center of fetal side | Placental tissue | 5.93 | 17.806 | 47,XY, + 21[19%] | – | |
5 | Middle of fetal side | Placental tissue | 15.118 | 19.83 | 47,XY, + 21[21%]/47,XY, + 2[8%] | – | |
6 | Edge of fetal side | Placental tissue | 3.818 | 17.52 | 47,XY, + 21[18%] | – | |
7 | Root of umbilical cord | Umbilical cord tissue | 0.805 | 91.624 | 47,XY, + 21[96%] | – | |
8 | Amniotic fluid | Amniotic fluid | – | – | – | 47,XY, + 21 | |