Table 3b. Data on the prenatal cohort tested for BWS or SRS: tissues used for prenatal testing in BWS and SRS.
|
BWS |
SRS |
||||||
|---|---|---|---|---|---|---|---|
| Positive testing result | Mutation/epimutation | False positive | False negative | Positive testing result | |||
| Native CVS | 31 | 3 | ICR2 LOM (2) upd(11)pat (1) | ICR2 LOM (1) | 0 | 5 | 0 |
| Cultured CVS | 15 | 0 | 0 | 0 | 0 | 4 | 0 |
| Native AF | 44 | 12 | ICR2 LOM (8) Familial ICR1 GOM (1) upd(11)pat (3) | 0 | ICR2 LOM (1) upd(11p)pat (1) | 8 | 0 |
| Cultured AF | 30 | 4 | ICR2 LOM (4) | 0 | 0 | 19 | 0 |
| Fetal blood | 2 | 1 | ICR2 LOM (1) | 0 | 0 | 2 | 0 |
| total | 122 | 20 | 1 | 2 | 38 | 0 | |
Abbreviation: AF, amniotic fluid.