The fetal mandible: A 2D and 3D sonographic approach to the diagnosis of retrognathia and micrognathia

Abstract

Objective: To define parameters that enable the objective diagnosis of anomalies of the position and/or size of the fetal mandible in utero. Design: Fetuses at 18-28 gestational weeks were examined by two- and three-dimensional ultrasound. The study included normal fetuses and fetuses with syndromes associated with known mandible pathology: Pierre Robin sequence or complex (n = 8); hemifacial microsomia (Treacher-Collins syndrome, n = 3); postaxial acrofacial dysostosis (n = 1). Fetuses with Down syndrome (n = 8) and cleft lip and palate without Pierre Robin sequence or complex (n = 18) were also studied. Retrognathia was assessed through the measurement of the inferior facial angle, defined on a mid-sagittal view, by the crossing of: 1) the line orthogonal to the vertical part of the forehead at the level of the synostosis of the nasal bones (reference line); 2) the line joining the tip of the mentum and the anterior border of the more protruding lip (profile line). Micrognathia was assessed through the calculation of the mandible width/maxilla width ratio on axial views obtained at the alveolar level. Mandible and maxilla widths were measured 10 mm posteriorly to the anterior osteous border. Results: In normal fetuses, the inferior facial angle was constant over the time span studied. The mean (standard deviation) value of the inferior facial angle was 65.5 (8.13)°. Consequently, an inferior facial angle value below 49.2° (mean - 2 standard deviations) defined retrognathism. All the fetuses with syndromes associated with mandible pathology had inferior facial angle values below the cut-off value. Using 49.2° or the rounded-up value of 50° as a cut-off point, the inferior facial angle had a sensitivity of 1.0, a specificity of 0.989, a positive predictive value of 0.750 and a negative predictive value of 1.0 to predict retrognathia. In normal fetuses, the mandible width/maxilla width ratio was constant over the time interval studied. The mean (standard deviation) value was 1.017 (0.116). Consequently, a mandible width/maxilla width ratio < 0.785 defined micrognathism. Mandible width/maxilla width ratio values were below this cut-off point in eight and in the normal range in four fetuses with syndromes associated with mandible pathology. Conclusions: Retrognathia and micrognathia are conditions that can be separately assessed. The use of inferior facial angle and mandible width/maxilla width ratio should help sonographic recognition and characterization of fetal retrognathic and micrognathic mandiblesin utero.