Dutch scientists are very close to developing a blood test that will replace the more invasive methods of diagnosing Down syndrome during pregnancy. The researchers announced their progress at a conference of the European Society of Human Reproduction and Embryology (ESHRE).
A diagnostic method very often used in women who are more at risk of having a baby with Down syndrome is amniocentesis, i.e. puncture of the fetal bladder under ultrasound guidance to collect a sample of amniotic fluid. However, this method is associated with the risk of miscarriage (although relatively small, as it amounts to about 1%).
Researchers at the University Hospital in Maastricht are working on a test that will detect fetal genetic abnormalities in the mother’s blood. This method is very similar to what is currently used to detect DNA defects in amniotic fluid samples, but has the advantage of being faster, non-invasive and poses no risk to the fetus. In addition, blood tests can be performed as early as 6-8 weeks of pregnancy.
Dr. Suzanna Frints, who coordinates the research, emphasizes that the costs of such a test are small compared to invasive methods of prenatal diagnosis. She hopes that if the test proves successful, every woman will be able to do it in a few years.
Currently, the credibility of the tests is around 80%, but scientists are still working on improving them. (PAP)