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Prenatal detection of cystic fibrosis; comparative study of maltase and alkaline phosphatase activities in amniotic fluid
Author(s) -
Claass Andreas H. W.,
Kleijer Wim J.,
Van Diggelen Otto P.,
Van Der Veer Eveline,
Sips Herman J.
Publication year - 1986
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970060605
Subject(s) - maltase , amniotic fluid , alkaline phosphatase , cystic fibrosis , medicine , pregnancy , endocrinology , sucrase , interquartile range , prenatal diagnosis , alpha glucosidase , gastroenterology , enzyme , biology , fetus , andrology , biochemistry , genetics
The potential value of microvillar enzymes in the prenatal diagnosis of cystic fibrosis (CF) has previously been demonstrated and is corroborated in the present comparative study. Maltase and alkaline phosphatase (ALP) activities were studied in the amniotic fluids of 57 pregnancies with a 1 in 4 risk for CF or with a known CF outcome and in 489 controls. A simple assay for maltase activity (MU‐maltase) with the fluorogenic substate 4‐methylumbelliferyl α‐glucoside, offers great technical advantages and an at least equal detection rate of CF, when compared to the previously used test with maltose as substrate. Intestinal ALP was estimated either as phenylalanine inhibitable activity (PI‐ALP) or as the proportions of residual activity in the presence of the inhibitors phenylalanine or homoarginine. MU‐maltase and PI‐ALP appeared the most successful methods: both tests were able to detect 14 of the 16 (88 per cent) pregnancies with fetal CF. Each of the two tests alone also allowed a correct prediction in 24 of the 25 pregnancies at risk but with normal outcome; however all 25 cases could be correctly predicted by a combined evaluation. It is suggested that more than one intestinal enzyme activity should be evaluated to allow optimal results in the prenatal monitoring of pregnancies at high risk for CF.