Table 1

Details of the eight infants born with cystic fibrosis during the first five years of the antenatal screening programme

Case NoAge at diagnosisΔ genotypeAntenatal details
1PrenatalΔF508/ΔF508Paternal mutation already known. Maternal antenatal diagnostic  laboratory diagnosis (close family history)
2Birth (meconium ileus)N1303K/Q493XPrevious genetic counselling (close family history). Not screened in  pregnancy
320 months. Persistent right upper lobe collapseΔF508/P67LDonor insemination. P67L mutation not part of screen performed on  donor. No maternal antenatal screen
42 months. Failure to thriveΔF508/1717-1G-AAntenatal screening. 1717-1G-A mutation not part of screen.  Unavoidable miss
56 weeks. Persistent respiratory syncytial virus bronchiolitisΔF508/?Antenatal screening. Paternal mutation still not identified.  Unavoidable miss
6Birth (meconium ileus)ΔF508/1717-1G-AAntenatal screening. 1717-1G-A mutation not part of screen.  Unavoidable miss
723 months. Pseudomonas chest infectionΔF508/ΔF508Antenatal screening. Laboratory error. Avoidable miss
8Prenatal one in four riskΔF508/R117HAntenatal screening identified one in four risk. Twin pregnancy;  prenatal diagnosis not requested