Table 1

Summary of the ‘affected not detected’ babies

Mode of presentationTotal (n=18)Meconium ileus (n=10)Respiratory symptoms/FTT/other (n=8)
Genetics
 Homozygous Phe508del, n (%)5 (28)4 (40)1 (13)
 Heterozygous Phe508del, n (%)8 (44)3 (30)5 (63)
Age at diagnosis (days), median (IQR)56 (7–174.5)8 (1–29)170 (92–2946)
Sweat chloride (mmol/L), median (IQR)87.5 (70.5–103.75)97 (92–106.5)69 (65–81.5)
Pancreatic insufficient, n (%)10 (63)9 (90)2 (25)
First IRT, median (IQR)56 (45–63.5)55 (45–59)61 (55.3–73.5)
  • Non-Phe508del variants were varied, so individual proportions are not quoted.

  • FTT, failure to thrive; IRT, immunoreactive trypsinogen.