Address of Corresponding Author

Fetal Diagn Ther 2006;21:118-124 (DOI: 10.1159/000089061)

  Key Words

• Prenatal diagnosis
• Fanconi anemia
• Flow cytometry
• Cell cycle analysis
• Amniotic fluid cells
• Umbilical cord blood cells

  Abstract

Objective: To explore the potential of flow cytometry in the prenatal exclusion or confirmation of Fanconi anemia (FA). Methods: Indications for prenatal diagnosis were (1) FA-negative family history, but suspicious ultrasound findings such as radial ray aplasia, (2) FA-positive family history, but without knowledge of the affected gene and/or mutation. Amniotic fluid (AF) cell cultures and umbilical cord (UC) blood cultures were assayed for typical cell cycle changes (G2-phase accumulations) without and with mitomycin C (MMC) treatments using single- and dual-parameter (BrdU-Hoechst) flow cytometry. Results: Single-parameter flow cytometry correctly identified 2 positive and 9 negative cases on the basis of MMC sensitivity of cultivated AF cells. Likewise, 8 negative and 2 positive cases were correctly predicted using bivariate flow cytometry of 72-hour UC blood cultures. In contrast, bivariate flow cytometry applied to AF cells grown in the presence of bromodeoxyuridine (BrdU) yielded false-positive and false-negative results.Conclusions: Single-parameter flow cytometry of AF cell cultures and bivariate flow cytometry of UC cell cultures have the potential to correctly predict the affected status in cases at risk for FA, whereas bivariate flow cytometry proved unreliable when applied to BrdU-substituted AF cell cultures. Cases with a low a priori risk (e.g. sonographic finding of radial ray abnormalities and negative family history) would benefit most from flow cytometry as a rapid and economical prenatal screening procedure.

Copyright © 2006 S. Karger AG, Basel

  Author Contacts

Dr. Holger Hoehn
Department of Human Genetics, University of Würzburg
Biozentrum am Hubland, DE-97074 Würzburg (Germany)
Tel. +49 931 8884071, Fax +49 941 8884434
E-Mail hoehn@biozentrum.uni-wuerzburg.de

  Article Information

Received: November 17, 2004
Accepted after revision: January 19, 2005
Number of Print Pages : 7
Number of Figures : 6, Number of Tables : 0, Number of References : 22