Scientists have pieced together the entire DNA sequence of an 18-week-old fetus without having to use any invasive tests that could result in a miscarriage — an advance that offers a glimpse of the future of prenatal testing.
Using blood drawn from the mother and a sample of saliva from the father, the researchers were able to scan the fetus’ genome and determine whether it contained any of the myriad single-letter changes in the DNA code that can cause a genetic disorder. They could even pinpoint which mutations were inherited from Mom, which came from Dad, and which were brand-new.
If the technique is refined and the technology becomes inexpensive — as many experts anticipate — this type of prenatal testing could provide prospective parents with a simple, risk-free way to screen for a broad array of simple genetic disorders, according to the authors of a report in Thursday’s edition of Science Translational Medicine.
