Craniosynostosis: Clinical Presentation, Genetics, and Prenatal Diagnosis

Importance Craniosynostosis is a fetal condition caused by premature closure of the cranial sutures. Through provider awareness, we can raise suspicion in high-risk individuals, increase prenatal detection, optimize genetic testing, perform appropriate antenatal surveillance and delivery planning, and allow for a comprehensive, multidisciplinary approach to treatment. Objective The aim of this study was to review what is currently known regarding the genetics, pathophysiology, diagnosis, and treatment of craniosynostosis for the obstetric care provider. Evidence Acquisition A comprehensive literature review was performed using the PubMed database with the search term craniosynostosis. The search was limited to the English language. Results A total of 220 articles were identified, and a total of 53 were used in completion of this article. The results highlight the multiple factors involved with abnormal suture formation, including various genetic factors. Although rare at this time, prenatal detection can allow families to prepare and practitioners to provide appropriate clinical treatment. Both 3-dimensional sonography and magnetic resonance imaging have been identified as modalities to aid in detection for high-risk individuals. Early referral allows for less-invasive surgical outcomes with lower complication rates. Conclusions and Relevance Familiarity with craniosynostosis among obstetric providers can improve patient counseling, prenatal detection rates, and appropriate antepartum, intrapartum, and postpartum counseling. Target Audience Obstetricians and gynecologists, family physicians Learning Objectives After participating in this CME activity, physicians should be better able to identify the various craniosynostosis syndromes and their genetic basis; describe the role of ultrasound and magnetic resonance imaging with respect to prenatal diagnosis; and summarize clinical management aims, including early referral and establishment of a multidisciplinary team.