Alpha‐thalassaemia prenatal diagnosis by two PCR‐based methods

Abstract In Cyprus all couples carrying α 0 ‐thalassaemia mutations are detected in the course of the thalassaemia carrier screening program and prenatal diagnosis is offered to all of them. Prenatal diagnosis for α‐thalassaemia is routinely done by two independent molecular methods. With the first method, the mutations of the parents are directly determined by gap‐PCR and then the chorionic villus sample (CVS) is examined for the presence of these mutations. With the other method, a (CA) n repeat polymorphic site located between the ψα 1 ‐ and α 2 ‐globin genes is used for determining the presence or absence of the normal and mutant alleles. In the period from 1995 to 1999, molecular analysis of 46 couples in which haematological data were consistent with deletion of two α‐globin genes in both partners indicated that only 13 of them were actually at risk for haemoglobin (Hb) Bart's hydrops fetalis and prenatal diagnosis was provided in 16 pregnancies. The molecular diagnosis was possible in all cases with the use of both gap‐PCR and (CA) n repeat polymorphisms analysis. No misdiagnosed cases for α‐thalassaemia have been reported to date. Copyright © 2001 John Wiley & Sons, Ltd.