Abstract
Prenatal diagnosis of cystic fibrosis based on amniotic fluid microvillar enzyme activity assay has become routine practice in the past few years. Normal (median) values of these enzymes were determined in 177 normal healthy pregnancies between 15-20 gestational weeks and were related to enzyme values measured in 50 pregnancies complicated with congenital malformations, 6 monogenic inherited diseases and 4 chromosomal aberrations. It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial-renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of intestinal obstruction). With the collection of further data, the analysis of these enzymes might provide an opportunity to set up diagnostic procedures for the detection of other, non-CF-related cases.
MeSH terms
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Alkaline Phosphatase / analysis
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Alkaline Phosphatase / genetics
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Amniotic Fluid / enzymology*
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Chromosome Aberrations / diagnosis*
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Chromosome Aberrations / enzymology
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Congenital Abnormalities / diagnosis*
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Congenital Abnormalities / enzymology
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Congenital Abnormalities / genetics
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Cystic Fibrosis / diagnosis*
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Cystic Fibrosis / enzymology
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Cystic Fibrosis / genetics
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Enzymes / analysis*
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Enzymes / genetics
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Female
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Genetic Diseases, Inborn / diagnosis*
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Genetic Diseases, Inborn / enzymology
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Genetic Diseases, Inborn / genetics
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Humans
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Infant, Newborn
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Lactase
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Microvilli / enzymology
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Pregnancy
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Prenatal Diagnosis*
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Trehalase / analysis
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Trehalase / genetics
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beta-Galactosidase / analysis
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beta-Galactosidase / genetics
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gamma-Glutamyltransferase / analysis
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gamma-Glutamyltransferase / genetics
Substances
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Enzymes
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gamma-Glutamyltransferase
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Alkaline Phosphatase
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Lactase
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beta-Galactosidase
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Trehalase