Principles of genetics and their clinical application in the neonatal intensive care unit

The neonate born with a genetic defect or fetal anomaly presents a challenge to the neonatal intensive care unit team. Typically genetic disorders are thought of as being rare; however, this is not true, and it is becoming increasingly evident as knowledge and technology progress. A definitive diagnosis is essential for management and care of the neonate and the neonate's family. An evidence-based approach to the neonate who has a suspected genetic anomaly is essential to provide accurate diagnosis and to guide ongoing care. This article gives an overview of basic genetics and genetic counseling, and applies the principles to two case studies.