Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism

D. K. Kalousek, P. N. Howard‐Peebles, S. B. Olson, I. J. Barrett, A. Dorfmann, S. H. Black, J. D. Schulman, R. D. Wilson

Research output: Contribution to journalArticle

145 Scopus citations

Abstract

About 2 per cent of specimens from chorionic villus sampling (CVS) analysed either on direct preparation of cytotrophoblast cells or afterculture of mesenchymal stroma reveal confined placental mosaicism (CPM), most commonly involving chromosomal trisomy. A significantly higher rate of prenatal loss (22 per cent) as well as the presence of intrauterine growth retardation (IUGR) has been reported among pregnancies with CPM. To evaluate more precisely the effect of these aneuploid cell lines confined to the placenta on intrauterine fetal growth and fetal survival, we have studied 34 term placentae from pregnancies with CPM diagnosed on CVS and confirmed identical mosaicism in 17 of these placentae. There was a direct correlation between a high number of aneuploid cells present at CVS and a high likelihood of their detection in term placenta. Also, the proportion of aneuploid cells in the mosaic term placentae correlated with that observed in CVS specimens. Among 17 gestations with confirmed CPM at delivery, there were six cases of IUGR identified, five in liveborns and one associated with intrauterine death.

Original languageEnglish (US)
Pages (from-to)743-750
Number of pages8
JournalPrenatal Diagnosis
Volume11
Issue number10
DOIs
StatePublished - Oct 1991

Keywords

  • Confined placental mosaicism (CPM)
  • Intrauterine growth retardation (IUGR)

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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    Kalousek, D. K., Howard‐Peebles, P. N., Olson, S. B., Barrett, I. J., Dorfmann, A., Black, S. H., Schulman, J. D., & Wilson, R. D. (1991). Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenatal Diagnosis, 11(10), 743-750. https://doi.org/10.1002/pd.1970111002