Prenatal diagnosis of beta thalassaemia by fetal red cell enrichment with NH4-Cl-NH4HCO3 differential lysis of maternal cells.

ABSTRACT

Prenatal diagnosis with globin chain synthesis analysis on fetal red blood cells concentrated by NH4Cl-NH4HCO3 differential lysis of maternal cells (Orskov lysis) was carried out in 27 pregnancies at risk for beta thalassaemia and one at risk for sickle cell beta0 thalassaemia. The beta/gamma globin chain synthesis ratio was also determined after anti-i-differential agglutination (12 cases), in almost pure fetal samples (sic cases) and by extrapolation (one case). Differential lysis permitted the study of samples drawn by placental aspiration containing as little as 3.2% fetal red blood cells. There was no consistent difference between the beta/gamma ratios observed after differentail lysis and those determined after the use of the other approaches. A presumptive diagnosis of homozygous beta thalassaemia was made in nine cases. All but one of these pregnancies was terminated. The absence of beta chain synthesis was confirmed by the study of fetal blood after abortion in four cases with suitable samples. Of the remaining pregnancies, six proceeded to term and non-homozygous infants were delivered. The others are still in progress. No fetal loss occurred. Orskov lysis seems to be a very reliable method for prenatal diagnosis of beta chain abnormalities. Moreover it can minimize the number and duration of placental aspirations required and thus the risk to the fetus.