Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience.

We reviewed all referrals for prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies performed at the Montreal Children's Hospital Prenatal Diagnosis Centre/McGill University during the period 1990-1995; 92 procedures were performed for these indications (less than 1 per cent of all referrals for prenatal diagnosis). All prenatal diagnoses for haemoglobinopathies (n = 55) were exclusively DNA-based. The three most frequent referrals were for beta-thalassaemia, sickle cell anaemia, and Tay-Sachs disease, accounting for 68 per cent of cases; the other indications were predominantly for untreatable inborn errors of metabolism. Our unit maintains population-based carrier screening programmes in high schools for beta-thalassaemia and Tay-Sachs diseases. Carriers detected in these programmes accounted for the majority of referrals for these two conditions. This study indicates that carrier testing and screening for sickle cell anaemia may be also welcomed by at-risk groups in Quebec.