Amniotic fluid microvillar enzyme activities in the early detection of fetal abnormalities |
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Authors: | David J. H. Brock David Bedgood Caroline Hayward Neil J. Carbarns Christine Gosden |
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Affiliation: | 1. Department of Human Genetics, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, Scotland;2. MRC Clinical and Population Cytogenetics Unit, Western General Hospital, Edinburgh EH4 2XU. Scotland |
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Abstract: | Measurement of the microvillar enzymes, γ-glutamyltranspeptidase (GGTP), aminopeptidase M (APM) and alkaline phosphatase (ALP), in amniotic fluid supernatant has been proposed as a method for the early prenatal diagnosis of cystic fibrosis. The activities of these enzymes in a series of other fetal abnormalities have now been examined. GGTP activities were below the 5th percentile in 28 out of 54 cases of trisomy 21 and 9 of 14 cases of trisomy 18, while APM values were below this cut-off in 26 of 54 cases of trisomy 21 and 8 of 14 cases of trisomy 18. Abnormal ALP isoenzyme ratios were found in 6 of 54 cases of trisomy 21 and 4 of 14 cases of trisomy 18. If prenatal cytogenetic studies are routinely carried out on amniotic fluid cells, the occasional confounding effect of abnormal microvillar enzymes associated with fetal trisomies rather than with cystic fibrosis should be avoided. |
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Keywords: | γ-glutamyltranspeptidase Aminopeptidase M Alkaline phosphatase Amniotic fluid microvillar enzymes Cystic fibrosis Autosomal trisomy |
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