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Isolation of fetal cells from transcervical samples by micromanipulation: Molecular confirmation of their fetal origin and diagnosis of fetal aneuploidy
Authors:Dr Boris Tutschek  Jon Sherlock  Ashutosh Halder  Joy Delhanty  Charles Rodeck  Matteo Adinolfi
Institution:Department of Obstetrics and Gynaecology, Chenies Mews, and Department of Genetics, Wolfson House, 4 Stephenson Way, University College London, London NW1 2HE, U.K.
Abstract:Transcervical cell (TCC) samples have been shown to contain fetal cells amenable to molecular analysis. However, the presence of ‘contaminating’ maternal cells limits their use for prenatal diagnoses. In this report we show that clumps of fetal cells can be isolated from transcervical samples by micromanipulation and tested by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). Out of 129 clumps, isolated from mucus aspirates and transcervical lavages from 29 patients, 29 clumps from 11 patients were found to be exclusively of fetal origin as judged by the detection of chromosome 21-specific polymorphic DNA markers and Y-derived DNA sequences by PCR and FISH. One case of a male triploid fetus, diagnosed by the analysis of TCC samples obtained by mucus aspiration and lavage, was confirmed by testing clumps of cells isolated by micromanipulation.
Keywords:non-invasive prenatal diagnosis  transcervical cells  micromanipulation  PCR  FISH
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