Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling

O. P. Phillips*, A. T. Tharapel, J. L. Lerner, V. M. Park, S. S. Wachtel, L. P. Shulman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

53 Scopus citations


OBJECTIVE: Our purpose was to determine the risk of fetal mosaicism when placental mosaicism is found on chorionic villus sampling. STUDY DESIGN: We present a case of mosaic trisomy 22 detected on chorionic villus sampling and subsequently found in the fetus. A review of comprehensive chorionic villus sampling studies with emphasis on follow-up for fetal mosaicism was conducted. RESULTS: Among 13 studies reviewed, 469 cases of placental mosaicism are presented; fetal mosaicism was found in 50 (10.7%). Factors associated with fetal mosaicism are (1) mosaicism on mesenchymal core culture and (2) type of chromosome abnormality involved-specifically, marker chromosomes (26.7%) and common autosomal trisomies (19.0%). Amniocentesis predicted fetal genotype in 93% to 100% of cases of placental mosaicism, depending on the cell type in which mosaicism was diagnosed. CONCLUSIONS: Although mosaicism is usually confined to the placenta, the fetus is involved in about 10% cases. Patients should be counseled about this risk and the accuracy of follow-up amniocentesis.

Original languageEnglish (US)
Pages (from-to)850-855
Number of pages6
JournalAmerican Journal of Obstetrics and Gynecology
Issue number3
StatePublished - Jan 1 1996


  • Placental mosaicism
  • chorionic villus sampling
  • fetal mosaicism
  • trisomy 22

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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