Down syndrome is associated with varying degrees of physical and mental retardation. It occurs by the random addition of a chromosome 21 at conception, which happens more regularly in older mothers. However, regardless of maternal age, the incidence of Down syndrome is 1 in 600 births.
Amniocentesis or other procedures are recommended for 'at risk' patients and samples of amniotic fluid are routinely sent to the laboratory for culture and analysis taking up to three weeks to complete. The waiting time for such an important result can sometimes be agonising for the mother-to-be.
Amnio-PCR provides a rapid diagnosis of the major chromosome abnormalities including Down syndrome, giving a definitive result on average within 24-48 hours.