With scientific advances, sometimes you need to read between the lines. At first glance, all looks well with a successful new test developed by researchers at the Chinese University of Hong Kong. They can now test unborn children to discern if they have cystic fibrosis, b-thalassemia, or sickle cell anemia—ailments caused by a single mutated gene. Actually, tests already exist that can detect cystic fibrosis before birth. But they require doctors to insert a needle into the mother's womb, which sometimes results in miscarriage. The new test, announced online by the Proceedings of the National Academy of Sciences, requires no such invasive measures. It compares the baby's DNA in the mother's blood with her own DNA. The key breakthrough came when researchers employed digital technology to count individual mutant or normal DNA sequences.
"This new study addresses a problem that has been puzzling investigators in the field of noninvasive prenatal diagnosis over the last ten years," said study coauthors Dennis Lo and Li Ka Shing.
So far, the new test is prohibitively expensive, and must undergo further trials with a larger sample. But this latest breakthrough fits a recent trend. Stanford University researchers announced in October that they can detect Down syndrome with a blood test. Until now, invasive testing—called amniocentesis—has been reserved primarily for higher-risk mothers in their late 30s and 40s. Discovery of Down syndrome by amniocentesis amounts to a death sentence for about 90 percent of these children.
That's the story inside the story of this latest advancement that no one bothered to mention—not the BBC, nor The Wall Street Journal, nor the company that stands to benefit from this new ...1