4medical Scientific Review

Screening for genetic disorders in newborns began in 1962 with the use of Guthrie’s bacterial inhibition test for phenylalanine quantification. It resulted in the development of many other tests used in the mass screening of newborns for metabolic defects, endocrinopathies, hemoglobinopathies, and cystic fibrosis. Despite the explosion in molecular biology and the recent decoding of the human genome, molecular diagnostic techniques are not widely used in the newborn nursery. However, molecular diagnostic techniques will become increasingly important part of the newborn assessment. This review will summarize the recent experience with molecular diagnosis in the newborn nurseries of the Children’s Hospital at Montefiore.