Prenatal diagnosis for chromosome abnormalities: past, present and future.

Prenatal diagnosis for chromosome abnormalities has been available for over 30 years. The most common referral indication is a raised risk of Down's syndrome, and diagnosis has, until recently, been carried out by culture of cells from invasive prenatal sampling, followed by full karyotype analysis, with a waiting time of around 2 weeks for results. More recent developments in fluorescence in situ hybridisation (FISH) and quantitative fluorescence-PCR techniques have led to rapid 1-2 d reporting for Down's syndrome, opening the way to the possibility of targeted testing based on referral indication, thus reducing the incidence of difficult counselling issues and potentially unnecessary pregnancy terminations following the unexpected discovery of anomalies such as balanced chromosome rearrangements. The future of prenatal diagnosis must lie in the non-invasive diagnosis of Down's syndrome using fetal cells from maternal circulation.