New test for Down Syndrome – safer than amniocentesis

There was one compelling reason why I opted out of genetic testing with my last pregnancy. The risk of miscarriage due to amniocentesis was the same as the risk of having a baby with Down Syndrome.

Amniocentesis is considered the gold standard, but it’s an invasive procedure with a 1/100 risk for miscarriage, the same risk for Downs. I quickly realized I would rather give birth to a baby with Downs than be responsible for a miscarriage.

Fortunately, now there is a new, totally non-invasive procedure for genetic testing of Down Syndrome. It only requires the maternal blood sample (basic blood draw) to spot chromosomal abnormalities in the fetus. Scientists from Stanford University utilized fetal DNA fragments in the mother’s blood and read the fragments using DNA sequencing. Women with Down syndrome pregnancies showed the chromosome 21-fragments in their blood compared to women with normal pregnancies. Lead scientist Stephen Quake hopes their new technique holds up in further research, to become a simple and inexpensive genetic testing tool.

UPDATE: Marijke talked about this too, and with a personal story of her brother who has Downs, at the channel’s pregnancy/infant blog Womb Within.

source: Market Watch/Karen Roach – Fotolia.com