After completing this article, readers should be able to: 1. List important factors in the maternal or family history that may suggest the possibility of a genetic disorder in the newborn. 2. List the prenatal factors that may suggest a genetic disorder in the newborn. 3. Describe the most important steps in the initial evaluation of a baby born with dysmorphic features, anomalies, and birth defects of internal organs. 4. Characterize an appropriate genetic evaluation for the newborn who has hypotonia and poor feeding. 5. Delineate the additional tests to be considered in an infant born with congenital heart disease. Approximately 3% of newborns are born with genetic problems such as birth defects. Some anomalies, such as cleft lip, are isolated defects in an otherwise normal, healthy infant and are associated with an excellent prognosis following surgical repair. Other anomalies, when occurring as part of a constellation of dysmorphic features, and other birth defects, may represent a more serious underlying genetic disorder. This article discusses common findings in the newborn that should prompt more in-depth testing and suggests an initial approach to the genetic evaluation of the newborn. A detailed, comprehensive family history is essential. Important clues to possible genetic factors that can be ascertained include: Detailed …