An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue

James P. Crane, Sau W. Cheung

    Research output: Contribution to journalArticlepeer-review

    149 Scopus citations

    Abstract

    While the fetus and placenta have a common ancestry, chorionic villus tissue does not always reflect fetal genotype. Data are presented from 15 CVS subjects in whom cytogenetic inconsistencies were observed when comparing (1) cultured chorionic villi, (2) direct chromosome preparations of intact villi, and (3) cultured fetal tissue. Embryogenic models are presented to explain these discrepancies. Mosaicism confined to direct chromosome preparations was the most commonly observed inconsistency. This can be explained by postzygotic non‐disjunction limited to cytotrophoblast. In all but one instance, the abnormal cell line was limited to the placenta, with the normal cell line reflecting fetal genotype. Analysis of direct chromosome preparations from multiple individually processed villus fragments may be helpful in recognizing mosaicism confined to the placenta. While both direct chromosome preparations and villus cultures can be misleading, the latter are more likely to reflect fetal genetic status since they are derived from the extraembryonic mesoderm.

    Original languageEnglish
    Pages (from-to)119-129
    Number of pages11
    JournalPrenatal Diagnosis
    Volume8
    Issue number2
    DOIs
    StatePublished - Feb 1988

    Keywords

    • Chorionic villi
    • Cytotrophoblast
    • Direct chromosome preparation
    • Mosaicism
    • Prenatal diagnosis

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