Clinical whole-exome sequencing (WES) has been utilized for both pediatric and adult patients with complex, clinical presentations (like developmental disabilities) and typically yields a molecular diagnosis rate of about 30 percent. In these cases clinical WES is effective from both a cost and time perspective in ending long diagnostic odysseys. With shortening turnaround times, experts say that WES will soon be applicable in other patient populations, including critically ill neonates and even prenatally. Two presentations at the American College of Medical Genetics and Genomics annual meeting (March 8-12; Tampa, Florida) demonstrate the potential for WES to diagnose genetic disorders prenatally, including aneuploidies, large chromosomal deletion and duplication syndromes, as well as single-gene disorders. Timely WES results can inform developmental prognosis, pregnancy management, and recurrence risk for subsequent reproductive planning. Researchers from Baylor University (Houston) reported results from their first 43 consecutive prenatal cases. Fetal samples were obtained through either an invasive procedure or a product of conception. In 34 cases, WES was performed for the proband only (proband WES) followed by Sanger sequencing studies of both parental samples. In nine cases, the trio all underwent WES. For the final report, Sanger sequencing was used to confirm all contributing changes for […]