Prenatal exclusion/confirmation of Fanconi anemia via flow cytometry: a pilot study
| Autor: | Holger Hoehn, Kornelia Neveling, Ioannis Gavvovidis, Astrid Bechtold, Richard Friedl, Reinhard Kalb, Sabine Herterich, Detlev Schindler, Benni Gottwald |
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| Rok vydání: | 2004 |
| Předmět: |
Embryology
Pathology medicine.medical_specialty Amniotic fluid Prenatal diagnosis Pilot Projects Umbilical cord Flow cytometry Blood cell Fanconi anemia Pregnancy Prenatal Diagnosis medicine Humans Radiology Nuclear Medicine and imaging Family history Cells Cultured medicine.diagnostic_test business.industry Obstetrics and Gynecology General Medicine Cell cycle medicine.disease Amniotic Fluid Fetal Blood Flow Cytometry medicine.anatomical_structure Fanconi Anemia Pediatrics Perinatology and Child Health Amniocentesis Female business |
| Zdroj: | Fetal diagnosis and therapy. 21(1) |
| ISSN: | 1015-3837 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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