In the blood - Down syndrome testing

HOPE that a new non-invasive maternal blood test to screen for fetal trisomy 21 is on its way is sparking excitement among some in the obstetrics world, even though its clinical use is not yet imminent in Australia.

The non-invasive detection of fetal trisomy 21 will come via sequencing cell-free fetal DNA from a maternal blood sample, a method used in a recent study funded by United States genetic analysis company Sequenom Inc.1

The test is exciting interest because it appears it will remove another layer of risk for pregnant women, who currently face the chance of miscarriage if they opt for an invasive diagnostic test such as chorionic villus sampling (CVS) or amniocentesis. 

Clinicians would be able to offer pregnant women the blood test in addition to current screening tools, such as the current combination of a blood test and ultrasound measurement of fetal nuchal translucency. 

While it could eventually replace CVS and