Premium
A comparative study of microvillar enzyme activities in the prenatal diagnosis of cystic fibrosis
Author(s) -
Brock David J. H.
Publication year - 1985
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.1970050206
Subject(s) - cystic fibrosis , alkaline phosphatase , amniotic fluid , medicine , phenylalanine , amniocentesis , gastroenterology , prenatal diagnosis , pregnancy , gestation , enzyme , endocrinology , biology , fetus , biochemistry , genetics , amino acid
The potential of four enzyme‐based analytical systems has been compared in the secondtrimester prenatal diagnosis of cystic fibrosis (CF). Direct activity measurements were made of γ‐glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and the intestinal isoenzyme of alkaline phosphatase (ALP). In the fourth system the proportions of total ALP inhibited by phenylalanine and homoarginine, respectively, were assessed. Each system was applied to amniotic fluid samples from 94 pregnancies with al in 4 risk of CF, divided into retrospective (36) and prospective (58) series. No system gave an absolute separation of affected from unaffected cases. Measurement of APM and intestinal ALP (phenylalanine‐inhibitable ALP) gave a better detection rate for CF (35 of 41 cases, 85 per cent) than did measurement of GGTP (63 per cent) or assessment of ALP proportions (76 per cent). APM had a lower false positive rate (4 per cent) than intestinal ALP (8 per cent). For both the latter systems the detection rate of CF rose to 96 per cent (25 of 26), if gestations less than 17 weeks were excluded.