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Improved direct molecular diagnosis and rapid fetal sexing
Authors:David I Hoar  David B Haslam  Deborah M Starozik
Institution:Molecular Diagnostic Laboratory, Alberta Children's Hospital Research Centre and Department of Medical Biochemistry, The University of Calgary, Alberta, Canada T2N 4NI
Abstract:Adaptations of the techniques of modern molecular biology to prenatal diagnosis has opened new avenues for the detection of genetic diseases. We have taken advantage of the rapid adhesion of colony forming cells in cultured amniotic fluid samples to develop an improved method for molecular diagnosis. By employing the cell adherence regime sickle cell diagnosis using Mst II can be undertaken directly. In addition, hybridization with a cloned repetitive sequence that is of Y origin and has limited autosomal homology permits rapid fetal sexing in 3 to 4 days without compromising conventional cytogenetic or biochemical analysis. This combination of techniques provides a useful adjunct to convential prenatal genetic diagnosis in the second trimester.
Keywords:Molecular diagnosis  Rapid fetal sexing  Sickle cell diagnosis
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