The future of newborn screening belongs to obstetricians

Newborn screening has been a mainstay of genetic testing for several decade s. Molecular biological techniques, pervasive in genetics and in medicine, are shifting the focus of such testing from enzymology to molecular diagnos is. Concomitant developments in the isolation of fetal cells from maternal blood enable molecular analysis to be performed not just postnatally, but i n fact as early as the late first trimester. Potential advantages of first trimester prenatal diagnosis of those disorders currently performed postnat ally include more reproductive options for couples, and, in selected cases, the fact that certain genetic disorders can be treated much earlier in dev elopment, thereby potentially ameliorating the sequelae of these disorders. Thus, the future of newborn screening will belong as much to the obstetric ian as to the pediatrician, if not more so.