Translational research advances a new era of prenatal diagnosis and newborn screening

This article provides a review of selected metabolic disorders resulting from genetic mutations and the methods used to identify them prenatally or facilitate diagnosis in the early neonatal period. Prenatal and neonatal diagnostic technologies have expanded and improved dramatically in the 21st century, as is their application in population-based screening and/or targeted assessment of at-risk couples. For instance, preimplantation genetic diagnosis has been a major advance. Emphasis herein has been placed on prototype diseases such as phenylketonuria, cystic fibrosis, and Tay-Sachs that have stimulated seminal efforts to improve medical practices in these fields. As more molecular strategies evolve, future developments in prenatal screening and diagnosis, along with newborn screening expansion, seem likely to continue rapid translation to the bedside.