Regional mucoviscidosis screening using immunoreactive trypsin in umbilical cord blood]

In all neonates delivered at the Steyr Landeskrankenhaus from 1987 to 1989, immunreactive trypsin (IRT) in the umbilical cord blood was determined to enable early diagnosis of mucoviscidosis (cystic fibrosis, CF). Amongst 4,507 neonates 75 were found in whom the IRT was over the cut-off value of 1,204 ng/ml. Of these babies, 69 were presented at the age of six weeks for determination of elecrolytes in their sweat. Mucoviscidosis could be diagnosed in two patients. The sensitivity of our test is likely to be 100%. There is no question that the specificity (98.38%) requires improvement. The incidence of mucoviscidosis in our catchment area is 1: 2,254. The hypertrypsinemia detected was probably transient in 73 babies. Ten of these patients showed a one-minute Apgar score of less than seven.