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Prenatal diagnosis of sickle-cell anemia, perceptions of professionals and patients

Roberto Benedito de Paiva e Silva; Antonio Sérgio Ramalho

Departamento de Genética Médica, Faculdade de Ciências Médicas, UNICAMP, Caixa Postal 6111, 13081-970 Campinas, SP, Brasil. Send correspondence to A.S.R.

ABSTRACT

Although prenatal diagnosis of sickle-cell anemia has been facilitated by DNA analysis techniques, there is an ethical controversy about the validity of this procedure. We surveyed 59 geneticists, 55 hematologists and 52 adult patients in Brazil, on their perception of the disease. These patients regularly received medical and psychosocial guidance at the UNICAMP Hemocenter. Most consider their quality of life to be satisfactory despite the high level of discomfort caused by the disease. Although a majority of the geneticists (66%) and hematologists (67%) considered the probability of a patient with sickle-cell anemia leading a productive and socially adjusted life high when properly treated, most (59% of the geneticists and 51% of the hematologists) considered prenatal diagnosis to be an important resource for prevention of the disease. Nearly all patients would seek prenatal diagnosis for their children. Of these, 3/4 would prepare for early treatment and 1/4 would opt for abortion.

Keywords: prenatal diagnosis; sickle-cell; anemia; professionals; patients.

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