Confined placental mosaicism and intrauterine growth retardation: a case-control analysis of placentas at delivery

Am J Obstet Gynecol. 1995 Jan;172(1 Pt 1):44-50. doi: 10.1016/0002-9378(95)90082-9.


Objective: Our purpose was to determine the frequency of confined placental mosaicism in newborns with unexplained intrauterine growth retardation compared with infants with appropriate in utero growth.

Study design: Amnion, chorion, and villi from 12 growth-retarded infants and 24 appropriately grown, matched controls were karyotyped. Fluorescence in situ hybridization with chromosome-specific probes was then used to confirm the karyotypic abnormality at additional uncultured placental sites.

Results: Karyotype analysis revealed placental mosaicism involving either aneuploidy or polyploidy in three of 12 (25%) cases versus two of 24 (8.3%) controls. Fluorescence in situ hybridization confirmed the karyotypic abnormalities in the placentas from growth-retarded infants only.

Conclusion: Confined placental mosaicism was identified three times more frequently from placentas of growth-retarded infants compared with those of newborns with appropriate growth. Molecular studies of the placentas suggested a wider distribution of cells with abnormal karyotypes in cases compared with controls and support a biologic influence of placental mosaicism on fetal growth.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amnion / physiology
  • Case-Control Studies
  • Chorion / physiology
  • Chorionic Villi / physiology
  • Female
  • Fetal Growth Retardation / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotyping
  • Mosaicism*
  • Placenta / physiology*
  • Ploidies
  • Pregnancy
  • Reference Values