Accumulated experience with prenatal diagnosis of menkes disease by neutron activation analysis of chorionic villi specimens |
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Authors: | Heydorn K Damsgaard E Horn Nina |
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Institution: | 1.Isotope Division, Ris? National Laboratory, DK- 4000, Roskilde, Denmark ;3.John F. Kennedy Institute, DK- 2600, Glostrup, Denmark ; |
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Abstract: | Since 1983, prenatal diagnosis of Menkes disease has been carried out by determining Cu in samples of chorionic villi from
the fetus by means of radiochemical neutron activation analysis. Concentrations of Cu in chorionic villi from male fetuses
later confirmed to have Menkes disease were invariably higher than previously reported values for normal controls. Out of
240 samples analyzed in the period 1983–1998, there were 71 from female fetuses that could be carriers of the Menkes genetic
defect without suffering from the disease. Increased concentrations of Cu in these samples could not be attributed to the
presence of this genetic defect, but might result from sporadic contamination of the samples before analysis. Such contamination
also may occur in samples from male fetuses and thus raise the level of Cu in small, but normal specimens into the range characteristic
of Menkes disease. In spite of a strict protocol for taking samples without contamination, a total of four false positives
were reported during the period of investigation; no false negatives have occurred. |
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Keywords: | Menkes disease radiochemical neutron activation analysis (RNAA) chorionic villi prenatal diagnosis Menkes carrier Cu-contamination |
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