Prenatal diagnosis of beta-thalassaemia by second-trimester chorionic villus sampling.

In this study we evaluated the feasibility of second-trimester transabdominal chorionic villus sampling for prenatal diagnosis of beta-thalassaemia in 80 pregnancies at risk presenting in the second trimester at the Antenatal Service. Sampling was carried out from 13 to 20 weeks and was successful in all cases. The amount of chorionic villi obtained varied from 10 to 40 mg, which was sufficient to make fetal diagnosis by oligonucleotide analysis within 10 days from sampling in all cases. No fetal losses occurred. From these results we conclude that transabdominal chorionic villus sampling is a useful procedure for prenatal diagnosis of beta-thalassaemia in those couples presenting after the first trimester.