Revista Cubana de Medicina General Integral
versão On-line ISSN 1561-3038
DOMINGUEZ MENA, Mabel; VINALES PEDRAZA, María Idania; SANTANA HERNANDEZ, María Esther e MORALES PERALTA, Estela. Screening and dilemma of the genetic counselling in couples at risk for sickle cell anemia. Rev Cubana Med Gen Integr [online]. 2005, vol.21, n.1-2, pp. 0-0. ISSN 1561-3038.
A descriptive study was undertaken at the Office of Genetics Development of La Lisa municipality from January 1999 to December 2003. The sample was composed of 338 pregnant women carriers of sickle cell anemia that received genetical counselling, which included the conduction of hemoglobin electrophoresis in the expectants and their husbands. The data were processed by percentage calculation. 28 risk couples were detected (7.2 %), of which 21 (75 %) chose the prenatal diagnosis of fetal hemoglobin. 4 fetoes with sickle cell anemia (19 %) and 9 carriers (42.8 %) were found. 7 patients did not have prenatal diganosis (25 %), 5 of them (71.4 %) due to advanced gestational age and 2 (28.5 %) for rejecting to do so. The genetical counselling was not directive. The personal decisions were respected and reliability was guaranteed. The risk/benefit relation was explained and in all cases the informed consent for the prenatal diagnosis was obtained.
Palavras-chave : Sickle cell anemia; carrier; genetic counselling; prenatal diagnosis; informed consent; hemoglobin electrophoresis; risk; benefit.