Highly accurate non-invasive pre-natal test available "within 5 years"

Michael Cook
7 Jun 2012
Reproduced with Permission

Scientists are moving closer to a reliable, non-invasive pre-natal test for genetic disorders. In a study in the journal Science Translational Medicine, Jay Shendure, of the University of Washington, Seattle, pieced together a genetic profile of a foetus only 18.5 weeks after conception which was 98% accurate. "This is the first time that a fetus has been sequenced noninvasively," says Shendure.

A scientist at the Chinese University of Hong Kong discovered a technique in 2010 for creating a reliable test using only a blood sample from a pregnant woman. But applying the theory has been tricky. Even Dr Shendure's profile had a huge false positive rate for new mutations.

Other geneticists praised Shendure's achievement. Arthur Beaudet of the Baylor College of Medicine in Houston, Texas, told Science Now that "the near future will involve the routine sequencing of the genomes of fetuses during the first trimester of pregnancy." Kevin Lo, the scientist who first worked on the test, believes that all the problems will be worked out within five years.

Daunting ethical problems lie ahead. The test will be used extensively to abort children who have a genetic "problem". But who will define what constitutes a "problem" or a "defect"? Lo told Science Now: "I don't think it would be ethical to use this to screen for late-onset diseases like Alzheimer's or cardiovascular diseases, for example." But some parents would probably have few objections. Stay tuned. - Science Now, June 6