[The antenatal diagnosis of haemoglobinopathies. A preliminary study (author's transl)].

From now on antenatal diagnosis of haemoglobinopathies is possible. Fetal blood can be taken from the uterus from the 17th to the 20th week of the pregnancy by direct puncture of the placenta or placentocentesis or by selective puncture of a straight vein close to its insertion in the cord on the fetal surface of the placenta, using a fetoscope. Biochemical techniques today allow us to detect beta thalassaemia major (with total absence of synthesis or with synthesis of less than 2 per cent of the beta A chain of haemoglobin by the fetus) and drepanocytosis (which is the synthesis of the chain beta S by the in the absence of production of the chain beta A). It is possible in cases where the fetal blood that has been taken is seriously contaminated by maternal blood (which is often the case with direct punctures) by using purification methods to increase the proportion of fetal red blood cells in the sample by eliminating adult reticulocytes which could cause errors in diagnosis. There are several centres where this type of diagnosis is being carried out. Some of them now have two years' experience and their results are encouraging. In spite of their difficulty these methods of investigation can allow couples at risk to have normal children or heterozygous infants. They can help them to avoid the need for termination of pregnancy or permanent contraception.