The predictive value of cytogenetic diagnosis after CVS: 1500 cases |
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| Authors: | A S P M Breed MD A Mantingh J R Beekhuis M D Kloosterman H Ten Bolscher G J P A Anders |
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| Institution: | 1. Department of Obstetrics and Gynaecology, University Hospital Groningen, The Netherlands;2. Department of Obstetrics and Gynaecology, Diakonessenhuis Arnhem, The Netherlands;3. Department of Human Genetics, State University of Groningen, The Netherlands |
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| Abstract: | The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1·5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0·2 per cent in the last 500. In the remaining 1477 samples, 58 (3·9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue- and chromosome-specific selection mechanism is postulated. |
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| Keywords: | Prenatal diagnosis Chorionic villus biopsy Discrepancy Predictive value Mosaicism Tissue-specific selection |
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