Summary
Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal breakage and breakage induced by diepoxybutane (DEB) were analyzed. Increased breakage was used as a marker for the syndrome. Our results were unambiguous and provide a reliable method for prenatal detection of FA in the first trimester of pregnancy.
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References
Alter BP, Potter NU (1983) Long-term outcome in Fanconi's anemia. Description of 26 cases and review of the literature. In: German J, (ed) Chromosome mutation and neoplasia. Liss, New York, pp 43–62
Auerbach AD (1986) Prenatal diagnosis of mutagen-hypersensitivity syndromes. In: Wuepper KD (ed) Antenatal diagnosis of heritable dermatoses. Proceedings of 35th Symposium on the Biology of the skin. Karger, Basel (in press)
Auerbach AD, Wolman SR (1976) Susceptibility of Fanconi's anaemia fibroblasts to chromosome damage by carcinogens. Nature 261:494–496
Auerbach AD, Adler B, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67:128–135
Auerbach AD, Sagi M, Adler B (1985) Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics 76:794–800
Boué J, Oberle I, Heilig R, Mandel JL, Moser A, Moser H, Larsen JW Jr, Dumez Y, Boué A (1985) First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe. Hum Genet 69:272–274
Brambati B, Simoni G, Danesino C, Oldrini A, Ferrazzi E, Romitti L, Terzoli G, Rossella F, Ferrari M, Fraccaro M (1985) First trimester fetal diagnosis of genetic disorders: clinical evaluation of 250 cases. J Med Genet 22:92–99
Casey J, Ketterer D, Giles H (1983) Increased non-random chromosome breakage using Chang media. Am J Hum Genet 35:128A
Fanconi G (1967) Familial constitutional panmyelocytopathy, Fanconi's anemia (FA). I. Clinical aspects. Semin Hematol 4:233–40
Goossens M, Dumez Y, Kaplan L, Lupker M, Chabret C, Henrion R, Rosa J (1983) Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy. N Engl J Med 309:831–833
Old JM, Ward RTH, Petrou M, Karägozlü F, Modell B, Weatherall DJ (1982) First-trimester fetal diagnosis for haemoglobinopathies: three cases. Lancet II:1413–1416
Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi's anemia to chromosome breakage by DNA crosslinking agents. Cancer Res 33:1829–1836
Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, Fraccaro M (1983) Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 63:349–357
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Auerbach, A.D., Min, Z., Ghosh, R. et al. Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Hum Genet 73, 86–88 (1986). https://doi.org/10.1007/BF00292671
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DOI: https://doi.org/10.1007/BF00292671