In Utero Glossoptosis in Fetuses With Robin Sequence: Measurements From Prenatal MRI.

OBJECTIVE: Glossoptosis causes airway obstruction in patients with Robin sequence (RS), but little is known about the in-utero tongue. The purpose of this study was to assess shape and position of the fetal tongue on prenatal magnetic resonance imaging (MRI) to determine if this is predictive of postnatal RS. DESIGN: Retrospective case-control study including fetuses with prenatal MRIs performed from 2002 to 2017. Inclusion criteria were (1) prenatal MRI of adequate quality, (2) live born and evaluated postnatally for craniofacial findings. Subjects were divided into groups based on postnatal findings: (1) RS, (2) micrognathia without RS, and (3) a gestational-age-matched control group with normal craniofacial morphology. Outcome variables were based on the prenatal MRI and included fetal tongue height, length, and width, tongue shape index (TSI, ratio of height to length), and observation of tongue touching the posterior pharyngeal wall. RESULTS: A total of 116 subjects with mean gestational age at MRI of 25.6 ± 5.1 weeks were included: RS, n = 27 (23%); micrognathia, n = 35 (30%); control, n = 54 (47%). Tongue length was significantly shorter ( P = .009) and TSI was significantly larger in the RS group ( P < .0001). The tongue touched the posterior pharyngeal wall in 5 (19%) of the RS group and in no subjects in the other groups ( P < .0001). CONCLUSION: In utero tongue shape and position were significantly different in fetuses with postnatal RS compared to those with isolated micrognathia and controls. Prenatal MRI tongue characteristics may be predictors for postnatal RS.

Upper Airway Computed Tomography Measures and Receipt of Tracheotomy in Infants With Robin Sequence.

IMPORTANCE: Airway management in infants with Robin sequence is challenging. Objective upper airway measures associated with severe airway compromise requiring tracheotomy are needed to guide decision making. OBJECTIVES: To define objective upper airway measures in infants with Robin sequence from craniofacial computed tomography (CT) and to identify those measures in Robin sequence associated with tracheotomy. DESIGN, SETTING, AND PARTICIPANTS: A cohort study (2003 to 2014, over 1-year follow-up) of 37 infants with Robin sequence evaluated for surgical management and 37 selected age- and sex-matched controls without a craniofacial condition conducted in a pediatric institution's craniofacial center. MAIN OUTCOMES AND MEASURES: Define and compare CT-generated upper airway measures in these groups: infants with Robin sequence vs controls, and infants with Robin sequence with vs without tracheotomy. A negative difference signifies lower values for the Robin sequence and tracheotomy groups. Clinical data collected included age and height at time of CT scan, sex, tracheotomy presence, associated syndrome, and laboratory indicators of hypoventilation and hypoxemia. To evaluate interrater reliability, 2 raters performed each measurement in the Robin sequence group. RESULTS: In 74 infants, 17 of 28 measures were different between infants with Robin sequence and those in the control group. Tracheotomy was performed in 14 of 37 (38%) infants with Robin sequence. Infants with tracheotomy more commonly had associated syndromes (12 of 14 [86%] vs 11 of 23 [48%]) and a history of hypoventilation and hypoxemia (13 of 14 [93%] vs 15 of 23 [65%]). Five of the 11 measures associated with tracheotomy were reliable and simpler to measure with the following mean differences (95% CIs) between groups: tongue length, 0.87 (0.26 to 1.48); tongue position relative to palate, 0.83 (0.22 to 1.45); mandibular total length, -0.8 (-1.42 to -0.19); gonial angle, 0.71 (0.08 to 1.34); and inferior pogonial angle, 0.66 (0.02 to 1.29). Using a receiver operating characteristic analysis, a composite score of these 5 measures for predicting tracheotomy risk yielded an area under the curve of 0.83 and achieved 86% sensitivity and 74% specificity. CONCLUSIONS AND RELEVANCE: Computed tomography measures quantifying tongue position and mandibular configuration can identify infants with Robin sequence, and importantly, differentiate those who have severe upper airway compromise requiring tracheotomy. Following validation, these measures can be used for objective upper airway assessment and for expediting clinical decision-making in these challenging cases for which no such tools currently exist.

Prenatal sonographic features of triploidy at 12-16 weeks.

OBJECTIVE: The purpose of our study was to describe the sonographic appearance of triploidy in early pregnancy. METHODS: We report the sonographic characteristics of a cohort of fetal triploid cases detected at targeted ultrasonographic vaginal examinations between 12 and 16 weeks of gestation from 2008 to 2014. Indications for fetal karyotype following ultrasound were maternal request, advanced maternal age, increased nuchal translucency, and/or fetal abnormalities. RESULTS: Triploidy was detected in 25 cases during the 6 years of the study period with an estimated incidence of ~1 in 5000 pregnancies. Four cases had molar changes in the placenta. Among the remaining 21 cases, a consistent sonographic pattern was noted, which included the combination of asymmetric growth restriction with abdominal circumference lagging 2 weeks behind head circumference in 21/21, oligohydramnios in 20/21, abnormal posterior fossa or enlarged fourth ventricle in 20/21, and absent gall bladder in 17/21. Other findings present in more than 50% of cases included cardiac (70%) and renal (55%) abnormalities, clenched hands (55%), and hypoplastic lungs (67%). CONCLUSION: Fetal triploidy can manifest at 12-16 weeks with molar changes in the placenta or with a cluster of unusual sonographic findings whose presence should prompt appropriate testing for diagnosis in early pregnancy. © 2016 John Wiley & Sons, Ltd.

Study of Genial Tubercles of Craniofacial Anomalies Individuals on Cone Beam Computed Tomography Scans.

PURPOSE: Genial tubercles (GTs) are bony protuberances on the lingual aspect of the mandible symphysis, where genioglossus and geniohyoid muscles are inserted. In the literature, few papers report their real dimensions. Cleft lip and palate are craniofacial anomalies involving the maxilla, but the anatomical structures of the mandible can be altered when these have associated with the cleft, some syndrome. This study aimed to evaluate the GTs of 30 individuals and to make their measurements in cone beam computed tomography examinations. METHODS: A sample of 30 individuals, 19 of them with cleft lip and palate, 6 individuals with Treacher Collins syndrome (TCS), and 5 individuals with Pierre Robin sequence, was used. The GTs were evaluated about the amount and the following measurements were performed: A--distance from the apex of the central incisors to GT, B--mandibular thickness in the region of GT, C-GT height, D-GT width, and E--distance from inferior border of mandible to GT. RESULTS: The individuals presented since the absence of GTs to 3. The TCS group had the highest average of the measurements A, D, and E with statistical difference (P = 0.006) (P = 0.011) and (P = 0.017), respectively. The Pierre Robin sequence group had the highest average measurement of B and C, but there was no statistical difference. CONCLUSIONS: The difference in the measurements can be explained perhaps because individuals with TCS have glossoptosis and changes on retrognathic mandible, which would affect the position of the GT.

Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future.

Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.