NIH Seeks Better Database for Genetic Diagnosis

摘要

In 2011, Heidi Rehm, a molecular geneticist at the Harvard-affiliated Brigham and Women's Hospital in Boston, was asked to help physicians follow up on a prenatal ultrasound scan that showed a "nuchal translucency," a low-density area near the spinal cord of a fetus. It's viewed as a sign that the fetus might have a disfiguring condition called Noonan syndrome. So Rehm's lab did a DNA test, which came back positive for a gene variant listed in the lab's internal database as Noonan-related. The parents ended the pregnancy.