Feasibility of DNA diagnosis of haemoglobinopathies on coelocentesis

At 5-12 weeks of gestation the amniotic sac is surrounded by celomic fluid which contains cells of fetal origin. This fluid can be sampled by celocentesis, which involves the ultrasound-guided insertion of a needle through the vagina. The aim of this study was to examine the feasibility of prenatal diagnosis of hemoglobinopathies from the celomic fluid using a specific protocol. Celocentesis was performed at 7-9 weeks' gestation in 26 singleton pregnancies at risk for hemoglobinopathies. In 25 cases more than 30 fetal cells were recovered from the celomic fluid and in all these cases molecular analysis for hemoglobinopathies was possible and the results were confirmed by subsequent chorionic villus sampling or amniocentesis. The results of this study suggest that reliable diagnosis of thalassemia syndromes can be performed from 7 weeks' gestation by celocentesis. Further work is necessary to demonstrate the safety of celocentesis, although further work is necessary to improve widespread use and safety of the procedure..