Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal. |
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| Authors: | R Willemsen F Los S Mohkamsing A van den Ouweland W Deelen H Galjaard B Oostra |
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| Affiliation: | MGC-Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands. |
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| Abstract: | Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is described, using a rapid and simple antibody test on uncultured amniotic fluid cells. The test requires 1 ml of amniotic fluid and the results of this antibody test are available on the same day as the amniocentesis. |
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