Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Fanconi anemia screening
Introduction
Overview
Overview
There are no recommendations on screening for Fanconi anemia.
Screening
Screening
There are no recommendations on screening for Fanconi anemia. Screening for Fanconi anemia is not routinely done during pregnancy. This is in contrast to other disorders such as sickle cell disease or thalassemia, in which robust screening programs are in place. One study in Korea suggested that a nationwide screening program be implemented via treatment of cells with mitomycin C or diepoxybutane, which are DNA damaging agents.[1] However, this study included a very small number of patients and is not universally applicable to other populations. The costs and risks of screening likely outweigh the benefits.
References
References
- ↑ Kook H, Cho D, Cho SH, Hong WP, Kim CJ, Park JY; et al. (1998). “Fanconi anemia screening by diepoxybutane and mitomicin C tests in Korean children with bone marrow failure syndromes”. J Korean Med Sci. 13 (6): 623–8. doi:10.3346/jkms.1998.13.6.623. PMC 3054538. PMID 9886171.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]