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

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 Rubin 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)degrees Consequently,, an inferior facial angle value below 49.2degrees 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 49.2degrees or the rounded-up value of 50degrees as a cut-off point, the inferior facial angle bad 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 mandibles in utero.