Study recommends antenatal screening for Fragile X

NHS-commissioned researchers at Birmingham University have recommended carrying out trials of pregnancy tests for an inherited learning condition. The disorder, Fragile X syndrome, which varies in severity, is believed to affect around 10,000 people in England and Wales, and can require lifelong care. The study reviewed previous research and used economic calculations and predictions to reach its conclusions. The report concluded that even an expensive screening programme for all pregnant women could be cost-effective, given the cost of caring for Fragile X sufferers.

The gene responsible for Fragile X was discovered in 1991 and led to the development of reliable DNA tests that can accurately diagnose the condition and identify carriers. Members of affected families are at present offered tests to see if they are carriers. The condition is usually more severe than Down syndrome, is incurable, and is the most common inherited learning disorder, affecting about one in 4,000 boys and one in 8,000 girls.

The report will be considered by a subgroup of the National Screening Committee on 13 October, which says that such screening programmes would only be introduced as part of an ethically approved research project. Any plans to introduce such widespread genetic screening would coincide with current government plans to offer all pregnant women a test for Down syndrome by 2004. Currently about 80 per cent of women are offered screening for Down's syndrome, a chromosomal abnormality that affects about one in 1,000 births.