Abstract

DOMINGUEZ MENA, Mabel; VINALES PEDRAZA, María Idania; SANTANA HERNANDEZ, María Esther  and  MORALES PERALTA, Estela. Behavior of the prenatal chromosomal diagnostic program. Rev Cubana Med Gen Integr [online]. 2005, vol.21, n.1-2, pp. 0-0. ISSN 1561-3038.

A descriptive study was conducted in the Center of Genetic Development in La Lisa municipality from January 1999 to December 2003. The sample was composed of 251 pregnant women with advanced maternal age (38 or over) that seeked genetic counselling for having increased risk of chromosomopathies. The data were processed by the percentage calculation. 189 patients (75.29 %) were prenatally diagnosed (PND). 6 cases were positive, 4 Down's syndrome (47 XY+ 21), 1 super male (47 XYY), 1 trisomy 18 (47 XY + 18) and 15 cases without results. The prenatal diagnosis was not made in 62 patients, 12 due to threatened abortion, 25 due to advanced gestational age, 25 rejected the procedure and 3 for other causes. The genetic counseling was not directive. It respected the personal decisions and it was also reliable, presented the risk-benefit relation and required the informed consent.

Keywords : Down's syndrome; genetic counseling; prenatal diagnosis; chromosomopathies; trisomy; advanced maternal age; informed consent.

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