Details of the eight infants born with cystic fibrosis during the first five years of the antenatal screening programme
| Case No | Age at diagnosis | Δ genotype | Antenatal details |
|---|---|---|---|
| 1 | Prenatal | ΔF508/ΔF508 | Paternal mutation already known. Maternal antenatal diagnostic laboratory diagnosis (close family history) |
| 2 | Birth (meconium ileus) | N1303K/Q493X | Previous genetic counselling (close family history). Not screened in pregnancy |
| 3 | 20 months. Persistent right upper lobe collapse | ΔF508/P67L | Donor insemination. P67L mutation not part of screen performed on donor. No maternal antenatal screen |
| 4 | 2 months. Failure to thrive | ΔF508/1717-1G-A | Antenatal screening. 1717-1G-A mutation not part of screen. Unavoidable miss |
| 5 | 6 weeks. Persistent respiratory syncytial virus bronchiolitis | ΔF508/? | Antenatal screening. Paternal mutation still not identified. Unavoidable miss |
| 6 | Birth (meconium ileus) | ΔF508/1717-1G-A | Antenatal screening. 1717-1G-A mutation not part of screen. Unavoidable miss |
| 7 | 23 months. Pseudomonas chest infection | ΔF508/ΔF508 | Antenatal screening. Laboratory error. Avoidable miss |
| 8 | Prenatal one in four risk | ΔF508/R117H | Antenatal screening identified one in four risk. Twin pregnancy; prenatal diagnosis not requested |