Abstract
The promising method for the prenatal detection of cystic fibrosis (CF), developed by Naldler's group [6,7], has recently attracted considerable interest but there is a lack of confirmatory reports from other laboratories. We have established the assay for methylumbelliferyl-guanidinobenzoatereactive proteases (MUGB assay) and used it, together with isoelectric focusing and gel filtration, to screen retrospectively 84 second and third trimester amniotic fluids, one of which was known to be from a CF pregnancy.
The control values for MUGB-reactive protease were 4.25±1.36 and 6.12±1.04 nmoles/mg protein (mean±1 SD) for second and third trimester fluids, respectively, compared to 5.64 nmoles/mg protein for the third trimester CF fluid. Gel filtration resolved two peaks of MUGB-reactive protease of approximately 50 000 and 10 000 molecular weight from all samples. Insufficient CF fluid remained for isoelectric focusing and the results obtained with normal amniotic fluids were inconclusive due to a highly variable background staining. Thus, with two methods a false-negative result has been obtained, suggesting that further refinement of these techniques may be required before they can be routinely applied for the prenatal diagnosis of CF.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Brock DJH, Hayward C (1979) Methylumbelliferyl-guanidinobenzoate reactive proteases and prenatal diagnosis of cystic fibrosis. Lancet I:1245–1246
Dann LG, Blau K (1978) Exocrine-gland function and the basic biochemical defect in cystic fibrosis. Lancet II:405–407
Dann LG, Blau K (1979) Arginine esterase in amniotic fluid: Possible marker for cystic fibrosis. Lancet II:907
Fujimoto Y, Moriya H, Yamaguchi K, Moriwaki C (1972) Detection of arginine esterase of various kallikrein preparations on gellified electrophoretic media. J Biochem 71:751–754
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193: 265–275
Nadler HL, Walsh MMJ (1980) Intrauterine detection of cystic fibrosis. Pediatrics 66:690–692
Nadler HL, Walsh MMJ (1980) Prenatal detection of cystic fibrosis on amniotic fluid. Lancet II:96–97
Nadler HL, Rembelski P, Mesirow KH (1981) Prenatal detection of cystic fibrosis. Lancet II:1226–1227
Rao GJS, Nadler HL (1974) Arginine esterase in cystic fibrosis of the pancreas. Pediat Res 8:684–686
Rao GJS, Walsh-Platt M, Nadler HL (1978) Reaction of 4-methylumbelliferylguanidinobenzoate with proteases in plasma of patients with cystic fibrosis. Enzyme 23:314–319
Schwartz M, Brandt NJ (1981) False-negative results with methylumbelliferylguanidinobenzoate reactive proteases in cystic fibrosis pregnancies. Lancet II:1226
Walsh-Platt M, Rao GJS, Nadler HL (1978) Reaction of 4-methylumbelliferylguanidinobenzoate with cultivated human skin fibroblasts derived from patients with cystic fibrosis. Pediat Res 12:874–877
Walsh MM, Nadler HL (1979) Methylumbelliferyl-guanidinobenzoate reactive proteases in amniotic fluid: Possible marker for cystic fibrosis. Lancet I:622
Walsh MMJ, Nadler HL (1980) Methylumbelliferylguanidinobenzoate-reactive proteases in human amniotic fluid: Promising marker for the intrauterine detection of cystic fibrosis. Am J Obstet Gynecol 137:978–982
Walsh-Platt M, Rao GJS, Nadler HL (1979) Protease deficiency in plasma of patients with cystic fibrosis. Enzyme 24:224–229
Walsh MMJ, Rao GJS, Nadler HL (1980) Reaction of 4-methylumbelliferylguanidinobenzoate with proteases in human amniotic fluid. Pediat Res 14:353–356
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Green, J.R., Lentze, M.J., Rossi, E. et al. Prenatal diagnosis of cystic fibrosis: False negative result with the 4-methylumbelliferyl-p-guanidinobenzoate assay for proteases in amniotic fluid. Eur J Pediatr 139, 35–38 (1982). https://doi.org/10.1007/BF00442076
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00442076