Abstract
Prenatal diagnosis of chromosomal abnormalities by cytogenetic analysis is time consuming, expensive, and requires highly qualified technicians. Rapid diagnosis of aneuploidies followed by reassurance for women with normal results can be performed by molecular analysis of uncultured foetal cells in less than 24 h. Today, all molecular techniques developed for a fast diagnosis of aneuploidies rely on the semi-quantification of fluorescent PCR products from short tandem repeat (STR) polymorphic markers. Our objective was to test a chromosome quantification method based on the analysis of fluorescent PCR products derived from non-polymorphic target genes. An easy to set up co-amplification of portions of DSCR1 (Down Syndrome Critical Region 1), DCC (Deleted in Colorectal Carcinoma), and RB1 (Retinoblastoma 1) allowed the molecular detection of aneuploidies for chromosomes 21, 18 and 13 respectively. Quantitative analysis was performed in a blind prospective study of 400 amniotic fluids. Four samples (1%) could not be analysed by PCR probably because of a low concentration of foetal DNA. Follow up karyotype analysis was done on all samples and molecular results were in agreement with the cytogenetic data with no false–positive or false–negative results. Our gene based fluorescent PCR approach is an alternative molecular method for a rapid and reliable detection of aneuploidies which can be helpful for the clinical management of high-risk pregnancies.
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Acknowledgements
We thank Prof. P Boulot from the Department of Obstetrics and Gynaecology, Arnaud de Villeneuve Hospital of Montpellier; Dr P Benazech from the Clémenville Clinical Centre; Prof. D Lemery from the Department of Gynaecology, Hotel Dieu Hospital from Clermont-Ferrand; and Dr A Miton from the Department of Obstetrics and Gynaecology, Maternité Régionale de Nancy, for their help in the provision of the amniotic fluid samples.
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Rahil, H., Solassol, J., Philippe, C. et al. Rapid detection of common autosomal aneuploidies by quantitative fluorescent PCR on uncultured amniocytes. Eur J Hum Genet 10, 462–466 (2002). https://doi.org/10.1038/sj.ejhg.5200833
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DOI: https://doi.org/10.1038/sj.ejhg.5200833
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