Prenatal Diagnosis of Nonsyndromic Craniosynostosis: A Scoping Review

Abstract

Objective

Craniosynostosis is rarely diagnosed in utero. Prenatal diagnosis has the potential to improve patient outcomes and streamline care, however, and is becoming more feasible as technology improves. The objective of this study is to examine existing literature on prenatal diagnosis of nonsyndromic craniosynostosis.

Design/ Setting/ Participants

In accordance with PRISMA guidelines, Embase, Cochrane, and PubMed were searched for articles discussing prenatal diagnosis of nonsyndromic craniosynostosis via imaging studies. Studies that exclusively examined syndromic craniosynostosis were excluded.

Main Outcome Measure

Diagnostic criteria for prenatal diagnosis of craniosynostosis.

Results

The search identified 2129 articles. And 12 articles met inclusion criteria and were included in the final analysis. Ten of 12 included studies (83.3%) utilized biometric data (biparietal and occipitofrontal diameter, cranial index) to analyze fetal head shape. Two of 12 studies (16.7%) utilized specific ultrasonic markers to identify craniosynostosis including a “brain shadowing sign.” One study (8.3%) created a systematic quantitative screening methodology with formal shape analysis for identification of sagittal synostosis. In all included studies, identification of craniosynostosis was possible in the second or third trimesters.

Conclusions

Prenatal diagnosis of craniosynostosis is feasible and has the potential to improve patient outcomes. Creation of screening protocols and standardized metrics for sonographic diagnosis are important next steps in craniosynostosis care.