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. 1997 Mar;34(3):250-1.
doi: 10.1136/jmg.34.3.250.

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal

R Willemsen  1 , F Los, S Mohkamsing, A van den Ouweland, W Deelen, H Galjaard, B Oostra
Affiliations

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal

R Willemsen et al. J Med Genet. 1997 Mar.

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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