Objective: To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses. Methods: All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements. Results: Feasibility was the highest for the NBL (74.3-79.7%) and the MNM angle (75.7-79.05%). Correlation was good for the NBL, the PNT, and the MNM angle (intraclass correlation coefficient 0.706-0.835). Mean difference between operators was the lowest for the PNT and PFSR (0.03-0.08). Measurements in abnormal fetuses showed that the majority of trisomy 21 fetuses had either an absent nasal bone or a shorter NBL. The PNT and PNT/NBL ratio were above the 97.5th centile in one third of the cases. Fetuses with facial clefts or micrognathia showed on average a large MNM angle (multiple of the median 0.96-5.15). Conclusion: First-trimester facial markers are feasible. The PNT and PNT/NBL ratio were increased in one third of the trisomic fetuses, and the MNM angle in the majority of fetuses with micrognathia and facial clefts.
Bakker, M., Pace, M., de Jong-Pleij, E., Birnie, E., Kagan, K-O., & Bilardo, C. M. (2018). Prenasal Thickness, Prefrontal Space Ratio and Other Facial Profile Markers in First-Trimester Fetuses with Aneuploidies, Cleft Palate, and Micrognathia. Fetal Diagnosis and Therapy, 43(3), 231-240. https://doi.org/10.1159/000449099