improving antenatal genetic diagnosis

Improving antenatal genetic diagnosis

Larry Chamley, Peter Stone

The trend towards having children later in life has seen a rise in the average age of first time mothers in New Zealand to just over 30 years. The risk of genetic and chromosomal abnormalities such as Down’s syndrome increases with maternal age, and screening is often advised for many older mothers.

Amniocentesis and chorionic villous sampling (CVS) are the two procedures currently available to provide a definite diagnosis of fetal genetic abnormalities. However, both of these techniques are highly invasive and up to 2% of women undergoing these procedures will have a miscarriage. Dr Larry Chamley and his research team are developing a technique to harvest fetal cells from maternal blood. This will allow a simple blood test to replace the existing CVS and amniocentesis tests, thereby reducing the risk of miscarriage.

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