From: Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results
Patient | Gestational Weeks | Unique reads/M | Fetal DNA Fraction (%) | NIPT Z-scores | NIPT result | ||
---|---|---|---|---|---|---|---|
Chromosome13 | Chromosome18 | Chromosome21 | |||||
Case 1 | 15a | 3.79 | 15.67 | − 0.001 | 0.906 | − 0.201 | Low risk |
15b | 8.54 | 14.89 | − 0.432 | − 0.01 | 0.951 | Low risk | |
29c | 5.62 | 20.30 | 0.52 | 0.249 | 1.219 | Low risk | |
15d | 9.86 | 20.10 | − 1.22 | 0.93 | 0.566 | Low risk | |
29e | 9.85 | 17.90 | 0.606 | − 0.731 | 3.414 | Critical risk of T21 | |
Case 2 | 17 | 3.90 | 19.70 | 1.527 | 0.466 | 0.932 | Low risk |