Three-dimensional ultrasonographic presentation of micrognathia

Area of Science:

• Medical Imaging
• Fetal Medicine
• Medical Genetics

Background:

• Micrognathia, a condition characterized by an abnormally small jaw, can be challenging to diagnose prenatally.
• Traditional two-dimensional (2D) ultrasonography may have limitations in fully assessing the fetal facial profile.
• Understanding the variable presentations of fetal micrognathia is crucial for timely diagnosis and management.

Purpose of the Study:

• To illustrate the diverse appearances of fetal micrognathia using three-dimensional (3D) ultrasonography.
• To detail practical methods for analyzing 3D ultrasound volume data for micrognathia assessment.
• To enhance the diagnostic capabilities for fetal micrognathia through advanced imaging techniques.

Main Methods:

• Utilized 3D ultrasonography with multiplanar imaging and surface-rendering techniques.
• Acquired orthogonal multiplanar views to establish a midsagittal facial profile.
• Analyzed volume data to identify characteristic features and potential diagnostic pitfalls of fetal micrognathia.

Main Results:

• Presented nine cases of fetal micrognathia, showcasing its variable presentations.
• Identified micrognathia associated with conditions including Pierre Robin sequence, cerebrocostomandibular syndrome, Cornelia de Lange syndrome, and hypochondrogenesis.
• Demonstrated specific diagnostic challenges and pitfalls encountered during the evaluation of fetal micrognathia.

Conclusions:

• 3D multiplanar imaging improves the accuracy of analyzing the fetal midline sagittal facial profile.
• Surface rendering offers a valuable qualitative method for assessing the fetal chin from multiple perspectives.
• 3D ultrasonographic techniques serve as effective adjuncts to initial diagnoses made with 2D ultrasonography.