Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis.

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  • Additional Information
    • Source:
      Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE
    • Publication Information:
      Original Publication: Chichester, [Sussex]; New York : Wiley, c1981-
    • Subject Terms:
      Mosaicism*; Chorionic Villi/*metabolism ; Fetus/*metabolism ; Mesoderm/*metabolism ; Trisomy/*diagnosis ; Trophoblasts/*metabolism ; Uniparental Disomy/*genetics; Amniocentesis ; Amniotic Fluid ; Chorionic Villi Sampling ; Female ; Humans ; Karyotyping ; Placenta/metabolism ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies
    • Abstract:
      Objectives: Chromosomal mosaicism in chorionic villi (CV) is detected in ~1-2% of cases. When a mosaic in CV is detected during prenatal diagnosis, a confirmatory karyotype should be performed on amniocytes to discriminate between a mosaic confined to the placenta [confined placental mosaicism (CPM)] and one generalized to the fetus [true fetal mosaicism (TFM)]. We determined the likelihood that any mosaic abnormalities identified through CV samples are confirmed in the fetus.
      Methods: Over a period of 14 years, the laboratory analyzed both the cytotrophoblast and the mesenchyme of 60 347 CV samples. Cytogenetic results from CV samples showing mosaicism with follow-up amniocentesis were considered. The incidence of CPM and TFM and the risk of confirmation in the amniotic fluid (AF) were calculated. Uniparental disomy (UPD) was tested on ~300 cases at risk due to involvement of an imprinted chromosome.
      Results: Overall, 1317 mosaic CV cases (2.18%) were detected, of which 1001 were subsequently investigated by amniocentesis. The overall risk of TFM was 13% and UPD incidence was 2.1%.
      Conclusions: The very large presented sample set and consistency in cytogenetic methodology, especially the analysis of both placental layers performed on all CV samples will enable genetic counselors to determine the risk of fetal involvement and the clinical relevance of an identified mosaic condition.
      (© 2015 John Wiley & Sons, Ltd.)
    • Publication Date:
      Date Created: 20150728 Date Completed: 20160808 Latest Revision: 20220321
    • Publication Date:
      20240829
    • Accession Number:
      10.1002/pd.4656
    • Accession Number:
      26213308