TABLE 2.
Summery of case characteristics and cell‐based noninvasive prenatal test (NIPT) results of 22 consecutive pregnancy cases (group 2) recruited for prenatal Cystic fibrosis (CF) screening when they opted for invasive sampling with an indication other than CF
| Case‐ID | Gestational age at blood sampling | Number of candidate cells for WGA and STR analysis | Number of fetal cells for cell‐based NIPT for CFTR variants | Cell‐based NIPT result for CFTR variants | Concordance between cell‐based NIPT and CVS results |
|---|---|---|---|---|---|
| CF‐1 | 13 + 2 | 7 | 4 | Normal | Yes |
| CF‐2 | 12 + 6 | 10 | 9 | Normal | Yes |
| CF‐3 | 10 + 5 | 10 | 0 | ‐ | ‐ |
| CF‐4 | 13 + 3 | 10 | 10 | Normal | Yes |
| CF‐5 | 13 + 0 | 4 | 1 | Normal | Yes |
| CF‐6 | 13 + 4 | 10 | 5 | Normal | Yes |
| CF‐7 | 13 + 2 | 9 | 3 | Normal | Yes |
| CF‐8 | 12 + 3 a | 10 | 1 | Normal | Yes |
| CF‐9 | 12 + 6 | 10 | 7 | Normal | Yes |
| CF‐10 | 12 + 5 | 10 | 8 | Normal | Yes |
| CF‐11 | 11 + 1 a | 9 | 5 | Normal | Yes |
| CF‐12 | 13 + 1 a | 4 | 0 | ‐ | ‐ |
| CF‐13 | 10 + 4 | 10 | 4 | Normal | Yes |
| CF‐14 | 9 + 4 | 10 | 6 | Maternal carrier of F508del, fetus normal | Yes |
| CF‐15 | 12 + 1 | 10 | 6 | Normal | Yes |
| CF‐16 | 12 + 3 | 8 | 5 | Normal | Yes |
| CF‐17 | 13 + 6 a | 10 | 2 | Normal | Yes |
| CF‐18 | 11 + 2 | 10 | 6 | Normal | Yes |
| CF‐19 | 10 + 2 | 10 | 8 | Normal | Yes |
| CF‐20 | 13 + 3 | 10 | 5 | Maternal carrier of c.3718‐2477C > T, fetus normal | Yes |
| CF‐21 | 9 + 2 | 10 | 4 | Normal | Yes |
| CF‐22 | 14 + 0 | 5 | 1 | Normal | Yes |
a
Indicates blood samples that have been collected after invasive sampling.