Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies |
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| Authors: | P Miny MD P Hammer B Gerlach S Tercanli J Horst W Holzgreve B Eiben |
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| Institution: | 1. Institut für Humangenetik, University of Münster, Vesaliusweg 12–14, D-4400 Münster, Germany;2. Zentrum für Frauenheilkunde, University of Münster, Vesaliusweg 12–14, D-4400 Münster, Germany;3. Institut für Klinische Genetik am Evangelischen Krankenhaus, D-4200 Oberhausen, Germany |
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| Abstract: | Discrepant chromosome findings in placenta and fetus (false negative and false positive) after chorionic villus sampling (CVS) are mainly due to confined mosaicism. Non-mosaic normal or abnormal chromosome counts after direct preparation and culture nearly always correctly reflect the fetal chromosome constitution. False-negative results have almost exclusively been restricted to cytotrophoblast cells not representing a fetal chromosome abnormality. Diagnosis of placental mosaicism definitely requires an adequate follow-up by amniocentesis, fetal blood sampling, or sonography before a pregnancy is terminated. When direct preparations and cultured cells are used for cytogenetic diagnoses and placental mosaicism is not taken as proof for a chromosomal abnormality in the fetus, CVS is an accurate diagnostic tool. |
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| Keywords: | CVS Mosaicism Discrepancy |
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