Application of polymerase chain reaction to the prenatal diagnosis of sickle cell anaemia in Nigeria

Abstract

Although sickle-cell disease is very common in Nigeria, control by prenatal testing is lacking. The polymerase chain reaction-based technology combined with chorionic villi sampling has enabled us to offer prenatal diagnosis of sickle cell disease to 50 pregnant women who were at risk of bearing children with sickle cell anaemia. DNA was extracted from the villus and subjected to either PCR and restriction enzyme (Dde I) analysis (36 samples) or to PCR-ARMS procedure (12 samples) or to both procedures when the results by the first procedure were equivocal (2 samples). The genotypic distribution was 13AA, 25AS and 11SS. In one case, it was not possible to determine the genotype of the villi by both methods. A post delivery genotype analysis confirms the correctness of prenatal diagnosis in all the 42 subjects that has so far reported. The results clearly demonstrate the usefulness of the PCR method in the prenatal diagnosis of sickle-cell anaemia in this environment.