Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies

Prenat Diagn. 1991 Aug;11(8):581-9. doi: 10.1002/pd.1970110815.

Abstract

Discrepant chromosome findings in placenta and fetus (false negative and false positive) after chorionic villus sampling (CVS) are mainly due to confined mosaicism. Non-mosaic normal or abnormal chromosome counts after direct preparation and culture nearly always correctly reflect the fetal chromosome constitution. False-negative results have almost exclusively been restricted to cytotrophoblast cells not representing a fetal chromosome abnormality. Diagnosis of placental mosaicism definitely requires an adequate follow-up by amniocentesis, fetal blood sampling, or sonography before a pregnancy is terminated. When direct preparations and cultured cells are used for cytogenetic diagnoses and placental mosaicism is not taken as proof for a chromosomal abnormality in the fetus, CVS is an accurate diagnostic tool.

Publication types

  • Comparative Study

MeSH terms

  • Amniocentesis
  • Biopsy
  • False Negative Reactions
  • Female
  • Humans
  • Mosaicism / genetics*
  • Placenta / pathology*
  • Predictive Value of Tests
  • Pregnancy
  • Pregnancy Trimester, First
  • Prenatal Diagnosis*