Pitfalls in the prenatal diagnosis of propionic acidemia
Identifieur interne : 00EE80 ( Main/Exploration ); précédent : 00EE79; suivant : 00EE81Pitfalls in the prenatal diagnosis of propionic acidemia
Auteurs : P. D. Buchanan [États-Unis] ; S. G. Kahler [États-Unis] ; L. Sweetman [États-Unis] ; W. L. Nyhan [États-Unis]Source :
- Clinical Genetics [ 0009-9163 ] ; 1980-09.
English descriptors
- Teeft :
- Acidemia, Amniocytes, Amniotic, Amniotic fluid, Assay, Carboxylase, Chapel hill, Chromosome, Chromosome variant analysis, Clin, Cultured amniocytes, Cultured cells, Enzyme activity, Enzyme analysis, Enzyme assay, Female infant, Fetal, Fetal calf serum, Fetal cells, Fetus, Fibroblast, Maternal cell contamination, Maternal cells, Methylcitrate, Prenatal, Prenatal chromosome diagnosis, Prenatal diagnosis, Propionic, Propionic acidemia.
Abstract
Prenatal diagnosis of propionic acidemia can be performed by two independent methods: measuring an elevated quantity of the metabolite methylcitrate in amniotic fluid; and demonstrating deficient activity of propionyl‐CoA carboxylase in amniocytes cultured from the fluid. Discordant results in a pregnancy at risk for propionic acidemia were obtained. Elevated concentration of methylcitrate indicated an affected fetus, but the activity of propionyl‐CoA carboxylase was normal. An affected female infant was born. Chromosome variant analysis demonstrated that between passage two and four overgrowth of the female fetal cells by contaminating maternal cells led to the “false negative” results obtained by enzyme assay. This experience demonstrates the value of analysis of abnormal metabolites in amniotic fluid and highlights a problem that could confound the prenatal diagnosis of any condition assessed by enzyme activity.
Url:
DOI: 10.1111/j.1399-0004.1980.tb00867.x
Affiliations:
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Kahler</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Caroline du Nord</region></placeName><wicri:cityArea>Departments of Pediatrics, University of North Carolina, Chapel Hill</wicri:cityArea></affiliation></author><author><name sortKey="Sweetman, L" sort="Sweetman, L" uniqKey="Sweetman L" first="L." last="Sweetman">L. Sweetman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Pediatrics, University of California, San Diego, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Nyhan, W L" sort="Nyhan, W L" uniqKey="Nyhan W" first="W. L." last="Nyhan">W. L. Nyhan</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Pediatrics, University of California, San Diego, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Clinical Genetics</title><title level="j" type="alt">CLINICAL GENETICS</title><idno type="ISSN">0009-9163</idno><idno type="eISSN">1399-0004</idno><imprint><biblScope unit="vol">18</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="177">177</biblScope><biblScope unit="page" to="183">183</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="1980-09">1980-09</date></imprint><idno type="ISSN">0009-9163</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0009-9163</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Acidemia</term><term>Amniocytes</term><term>Amniotic</term><term>Amniotic fluid</term><term>Assay</term><term>Carboxylase</term><term>Chapel hill</term><term>Chromosome</term><term>Chromosome variant analysis</term><term>Clin</term><term>Cultured amniocytes</term><term>Cultured cells</term><term>Enzyme activity</term><term>Enzyme analysis</term><term>Enzyme assay</term><term>Female infant</term><term>Fetal</term><term>Fetal calf serum</term><term>Fetal cells</term><term>Fetus</term><term>Fibroblast</term><term>Maternal cell contamination</term><term>Maternal cells</term><term>Methylcitrate</term><term>Prenatal</term><term>Prenatal chromosome diagnosis</term><term>Prenatal diagnosis</term><term>Propionic</term><term>Propionic acidemia</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Prenatal diagnosis of propionic acidemia can be performed by two independent methods: measuring an elevated quantity of the metabolite methylcitrate in amniotic fluid; and demonstrating deficient activity of propionyl‐CoA carboxylase in amniocytes cultured from the fluid. Discordant results in a pregnancy at risk for propionic acidemia were obtained. Elevated concentration of methylcitrate indicated an affected fetus, but the activity of propionyl‐CoA carboxylase was normal. An affected female infant was born. Chromosome variant analysis demonstrated that between passage two and four overgrowth of the female fetal cells by contaminating maternal cells led to the “false negative” results obtained by enzyme assay. This experience demonstrates the value of analysis of abnormal metabolites in amniotic fluid and highlights a problem that could confound the prenatal diagnosis of any condition assessed by enzyme activity.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Californie</li><li>Caroline du Nord</li></region></list><tree><country name="États-Unis"><region name="Caroline du Nord"><name sortKey="Buchanan, P D" sort="Buchanan, P D" uniqKey="Buchanan P" first="P. D." last="Buchanan">P. D. Buchanan</name></region><name sortKey="Buchanan, P D" sort="Buchanan, P D" uniqKey="Buchanan P" first="P. D." last="Buchanan">P. D. Buchanan</name><name sortKey="Kahler, S G" sort="Kahler, S G" uniqKey="Kahler S" first="S. G." last="Kahler">S. G. Kahler</name><name sortKey="Nyhan, W L" sort="Nyhan, W L" uniqKey="Nyhan W" first="W. L." last="Nyhan">W. L. Nyhan</name><name sortKey="Sweetman, L" sort="Sweetman, L" uniqKey="Sweetman L" first="L." last="Sweetman">L. Sweetman</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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