A more accurate test for Down syndrome is being trialled in at Great Ormond Street Hospital for Children (GOSH) in London, much to the enthusiasm of fertility specialists.

A more accurate test for Down syndrome is being trialled in at  Great Ormond Street Hospital for Children (GOSH) in London, much to the enthusiasm of fertility specialists.

The new procedure is a simple blood test. The test will look for fragments of DNA from the placenta and the foetus in the mother’s bloodstream. These fragments can in turn be scanned for chromosomal anomalies.

Invasive screening methods, either amniocentesis or chorionic villus sampling, result in a miscarriage in 1 out of every 100 tests.

Dr Anne Mackie, from the UK National Screening Committee, said that “Early indications suggest that using Non-Invasive Prenatal Testing (NIPT) to screen women who are found to be at a higher risk of having a baby with Down’s syndrome would enable earlier and safer detection of the condition.”

The new test is bound to be quite controversial. An estimated 90% of women who learn that their child has Down syndrome choose to have an abortion. The outcome of the test will not be healthier children with Down syndrome, but fewer of them. 

Xavier Symons
Creative commons
Down syndrome
genetic screening