A review of neurogenetics in fetal and neonatal clinical medicine

This review of neurogenetics serves as a primer for clinicians practicing in fetal-neonatal medicine. The review provides an update on neurogenetics, understanding the language of genetics, genetic testing approaches, and interpretation of genetic test results. Common examples of neurogenetic disease in fetal-neonatal medicine are used to enhance basic concepts. The results of genetic testing and their implications for patients and families are outlined. Genetics is becoming foundational to clinical practice across specialties. The advances are improving the speed of diagnosis, facilitating early treatments, and improving outcomes in neurogenetic disorders. A basic understanding of genetics is foundational to appropriate clinical-decision making and interpretation of those results to describe common fetal-neonatal neurological phenotypes.