Chromosomal mosaicism in chorionic villi

Esther Cuatrecasas, Elisenda Masip, Teresa Escabias, Vicenç Català, Agustí Serés-Santamaría, Francesca Vidal, Anna Soler

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Introduction The study of chorionic villus samples comprises performing two cell cultures that may not have matching results. These discrepancies may be due to cytogenetic mosaics of in vivo or in vitro origin. This study included analysing the karyotypes in mosaics, associated with the cell culture and cytogenetic results. Material and methods Prospective study based on the analysis of 2,360 chorionic villus samples and 510 spontaneous abortion samples. Two cultures were routinely performed on the prenatal samples (short and long), as well as on the abortion samples. Results The success rate was 99.9% in the prenatal group, and 87.1% in the abortion group. The percentage of chromosomal anomalies in the prenatal group was 10.6%, with the common aneuploidies (trisomy 13, 18, and 21) being the most frequent. In the abortions group there 55.1% anomalies, with uncommon aneuploidy the most frequent. The percentage of mosaicism in the prenatal group was 3.1%, and it was 6.8% in the abortion group. The confined placental mosaicism type ii was the most frequent. Conclusions For the study of the mosaicism in chorionic villi samples the best strategy is to perform 2 prenatal samples cultures in parallel, and 3 abortion samples cultures. Given the risk to the mother and child using this invasive test, it is our duty to give the most comprehensive cytogenetic results achievable. © 2013 Asociacion Espanola de Diagnostico Prenatal. Published by Elsevier Espana, S.L. All rights reserved.
Original languageEnglish
Pages (from-to)99-107
JournalDiagnostico Prenatal
Issue number3
Publication statusPublished - 1 Jul 2013


  • Chorionic villus
  • Confined placental mosaicism
  • Cytogenetics
  • Mosaicism
  • Placental


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