Down Syndrome affects one in every 500 to 600 lives. Currently, the most effective way of testing for Down Syndrome is by amniocentesis, where doctors take a sample of amniotic fluid. However, the test carries the risk of miscarriage.

The ultrasound study, which appears in the January issue of Ultrasound in Obstetrics and Gynecology, found that the nasal bone was underdeveloped in 61.8 percent of fetuses with Down Syndrome. Only 1.2 per cent of normal fetuses had an underdeveloped nasal bone. That demonstrates that nasal bone underdevelopment is associated with high risk for Down Syndrome.

The researchers estimate that combining the detection of an underdeveloped nasal bone with other testing methods could raise the ability to detect Down Syndrome in fetuses to more than 90 percent. That would help reduce the need for amniocentesis.

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