PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-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 peri od 1990-1995: 92 procedures were performed for these indications (less than 1 per cent of all referrals for prenatal diagnosis). All prenata l 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 cas es; the other indications were predominantly for untreatable inborn er rors of metabolism. Our unit maintains population-based carrier screen ing programmes in high schools for beta-thalassaemia and Tay-Sachs dis eases. Carriers detected in these programmes accounted for the majorit y of referrals for these two conditions. This study indicates that car rier testing and screening for sickle cell anaemia may be also welcome d by at-risk groups in Quebec. (C) 1997 by John Wiley & Sons, Ltd.