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Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood

Nature Genetics volume 14, pages 264–268 (1996)Cite this article

Abstract

Currently, amniocentesis, chorionic villus sampling (CVS) and fetal blood sampling are used to obtain fetal cells for genetic diagnosis. These invasive procedures pose a small but not negligible risk for the fetus. Efforts have been directed towards the enrichment of fetal cells, such as erythroblasts, from maternal blood and progress has been made in the diagnosis of some chromosomal disorders and in sex determinations. We now report the detection of point mutations in single gene disorders using this method of prenatal diagnosis by enriching fetal cells from maternal blood by magnetic cell sorting followed by isolation of pure fetal cells by microdissection. In two pregnancies at risk for sickle cell anaemia and β–thalassaemia, we successfully identified the fetal genotypes. Thus, prenatal diagnosis of single gene disorders by recovering fetal cells from maternal circulation appears to be a feasible approach.

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Authors and Affiliations

  1. Howard Hughes Medical Institute, University of California, Third & Parnassus Avenues, U426, San Francisco, California, 94143-0724, USA

    Mei-Chi Cheung & Yuet Wai Kan

  2. Department of Obstetrics and Gynaecology, University of California, Third & Parnassus Avenues, U426, San Francisco, California, 94143-0724, USA

    James D. Goldberg

  3. Department of Laboratory Medicine, University of California, Third & Parnassus Avenues, U426, San Francisco, California, 94143-0724, USA

    Yuet Wai Kan

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  3. Yuet Wai Kan
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Cheung, MC., Goldberg, J. & Kan, Y. Prenatal diagnosis of sickle cell anaemia and thalassaemia by analysis of fetal cells in maternal blood. Nat Genet 14, 264–268 (1996). https://doi.org/10.1038/ng1196-264

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