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Molecular evidence of fetal-derived chromosome 21 markers (STRs) in transcervical samples
Authors:Matteo Adinolfi  Jon Sherlock  Peter Soothill  Charles Rodeck
Affiliation:1. Division of Medical and Molecular Genetics, 718th Floors Guy's Hospital Tower, London Bridge, London SE1 9RT, U.K.;2. Department of Obstetrics and Gynaecology, University College London Medical School, 86-96 Chenies Mews, London WC1E, U.K.
Abstract:Transcervical cells (TCCs), collected by flushing or aspiration at 8–13 weeks of gestation, were analysed for the presence of fetal-derived DNA sequences. DNA extracted from maternal peripheral blood, TCC samples, and placental tissue was amplified by the polymerase chain reaction (PCR) to detect small tandem repeat (STR) markers specific to chromosome 21. STR products of fetal origin could be clearly observed in four TCC samples. TCC samples collected by flushing or aspiration were also analysed by fluorescent in situ hybridization (FISH) using X and Y probes simultaneously: 46,XY cells could be detected in all TCC samples obtained from mothers with male fetuses.
Keywords:Transcervical cells  FISH  small tandem repeats  endocervical canal
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