• Journal of Genetic Medicine
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• v.3 no.1
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• pp.25-27
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• 1999

Purpose: To present our experiences in pseudomosaicism or maternal cell contamination in genetic mid-trimester amniocentesis confirmed through percutaneous umbilical blood sampling. Methods: From 1992 to 1997, repeated cytogenetic evaluation with fetal cord blood was carried out in 14 cases showing mosaic patterns. Results: We confirmed pseudomosaicism in 12 cases (85.7%) by repeated cytogenetic evaluation, and also maternal cell contamination in 2 cases. Conclusion: Repeated cytogenetic evaluation via percutaneous umbilical blood sampling was a rapid and useful method for the confirmation of mosaicism resulted from genetic mid-trimester amniocentesis.