Prenatal diagnosis of beta thalassemia: our experience

Thalassemia is the haemoglobinopathy most common in Calabria. We analyzed, from January 1992 to October 1998, 127 couples at risk for beta-thalassemia Chorionic villus sampling (C.V.S.) was performed by transcervical or transabdominally U.S. The obstetric following revealed a 3.14 % (4 cases) of spontaneous abortion and a 1.57 % (two cases) of preterm delivery. It was no possible to correlate these complications with the gestational age at the moment of the sampling or with the number of the attempts. The prenatal diagnosis identified 31 fetuses (23.4 %) affected by the disease and 66 heterozigous fetuses (51.96%), 25 (19.6%) healthy fetuses ; in 5 (3.9%) there were some unknown alleles. Out of 25 healthy fetuses we observed only one malformation. Here we report the incidence of the complications during the C.V.S.