[Prenatal diagnosis of beta-thalassemia. A study based in Calabria]

Abstract

Background: The aim of this study was to underline, given the well-known incidence of beta thalassemia in Calabria, the possibility of establishing a prevention programme based on an increased awareness among the population using information and health education, genetic consultancy to identify high-risk subjects and prenatal diagnosis.

Methods: Between January 1992 and December 1999, we analysed 181 high-risk couples for beta thalassemia using chorionic villi sampling (CVS) performed with an echoguided transcervical or transabdominal route. A steady rise was observed over the years in the number of couples asking for prenatal diagnosis, thus demonstrating that patients and doctors are increasingly aware of the importance of a correct prenatal diagnosis. The variability of molecular defects found and the number of complications linked to the technique used are underlined.

Results: Prenatal diagnosis revealed 46 fetuses with the disease (24.8%), 97 heterozygotes (53.2%) and 41 healthy fetuses (22%). Only one malformation was observed in the 41 healthy fetuses. The authors also report the incidence of complications linked to CVS. In overall terms, 2.2% of pregnancies ended in spontaneous abortions (4 cases) and 2.75% with preterm births (5 cases). These complications could not be correlated with gestational age at the time of biopsy or the number of attempts made to obtain an appropriate sample.