Antenatal diagnosis of thalassaemia major.

Authors :: Fairweather, D.V.I.
Modell, B.
Berdoukas, V.
Alter, Blanche P.
Nathan, D.G.
Loukopoulos, D.
Wood, W.
Clegg, J.B.
Weatherall, D.J.
Source :: British Medical Journal; 2/11/1978, Vol. 1 Issue 6109, p350-353, 4p, 2 Charts, 2 Graphs
Publication Year :: 1978
Abstract: Haemoglobin synthesis was studied in fetal blood samples obtained at 17 to 20 weeks' gestation in 22 women at risk of carrying a fetus with homozygous <bgr>-thalassaemia. A presumptive diagnosis of homozygous <bgr>-thalassaemia was made in four cases, and the pregnancy was terminated. An inconclusive answer was obtained in one case, and the patient also chose to have her pregnancy terminated. Two fetuses were lost as a result of the procedure. Of the remaining 15 pregnancies, 13 proceeded to term and, two to 36 weeks; in: each case a normal infant or one heterozygous for <bgr>-thalassaemia was delivered. <BR> Current efforts should be directed towards improving the blood sampling technology so that fetal blood sampling can be used widely technology so that fetal blood thalassaemia is a major problem. [ABSTRACT FROM AUTHOR]