A new marker set that identifies fetal cells in maternal circulation with high specificity

Prenat Diagn. 2014 Nov;34(11):1066-72. doi: 10.1002/pd.4429. Epub 2014 Jun 29.

Abstract

Objective: Fetal cells from the maternal circulation (FCMBs) have the potential to replace cells from amniotic fluid or chorionic villi in a diagnosis of common chromosomal aneuploidies. Good markers for enrichment and identification are lacking.

Method: Blood samples from 78 normal pregnancies were used for testing the marker-set CD105 and CD141 for fetal cell enrichment. Fetal cell candidates were subsequently stained by a cocktail of cytokeratin antibodies, and the gender of the fetal cells was explored by fluorescence in situ hybridization (FISH) of the X and Y chromosomes.

Results: Fetal cell candidates could be detected in 91% of the samples, and in 85% of the samples, it was possible to obtain X and Y chromosomal FISH results for gender determination. The concordance between gender determined by FISH on fetal cells in maternal blood and gender found at birth reached 100% if three or more fetal cells with FISH signals could be found in a sample.

Conclusion: The marker set identifies fetal cells with specificity high enough to make cell-based noninvasive prenatal diagnosis realistic.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood*
  • Blood Cells / cytology*
  • Female
  • Fetus / cytology*
  • Hematologic Tests
  • Humans
  • In Situ Hybridization, Fluorescence
  • Keratins / analysis
  • Keratins / blood
  • Male
  • Mothers
  • Pregnancy / blood*
  • Pregnancy Trimester, First / blood
  • Prenatal Diagnosis / methods*
  • Sensitivity and Specificity
  • Sex Determination Analysis / methods

Substances

  • Biomarkers
  • Keratins