Accuracy of cytogenetic findings on Chorionic Villus Sampling (CVS)—diagnostic consequences of CVS Mosaicism and non-Mosaic Discrepancy in Centres contributing to EUCROMIC 1986–1992

Abstract excerpt

Of 62,865 karyotyped chorionic villus (CV) samples that were reported to EUCROMIC 1986-1992, 98.5 per cent showed either a normal karyotype (true negative result; 94.8 per cent of the total) or a non-mosaic chromosomal aberration (true positive non-mosaic result; 3.7 per cent). True fetal mosaicism was diagnosed in about 0.15 per cent of the 62,865 CV samples, while confined placental mosaicism (CPM) occurred in...

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