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.

An algorithm for predicting Robin sequence from fetal MRI.

BACKGROUND: Infants with Robin sequence (RS) may present with airway compromise at delivery. Prenatal diagnosis would improve preparation and postnatal care. The purpose of this study was to devise a predictive algorithm for RS based on fetal magnetic resonance imaging (MRI). METHODS: Retrospective case-control study including fetal MRIs from 2002 to 2017. Inclusion criteria were (1) MRI of adequate quality, (2) live-born infant, and (3) postnatal evaluation. Subjects were grouped on the basis of postnatal diagnosis: (1) RS (micrognathia, glossoptosis, airway obstruction), (2) micrognathia without airway obstruction ("micrognathia"), (3) cleft lip and palate ("CLP"), and (4) gestational age-matched controls. A series of possible predictive variables were assessed on MRI. Receiver operator curves were applied to identify cut-off values, and a multivariable algorithm was developed. RESULTS: A total of 162 subjects with mean gestational age at MRI of 25.6 ± 4.9 weeks were included: RS, n = 27 (17%); micrognathia, n = 35 (22%); CLP, n = 46 (28%); control, n = 54 (33%). Three variables were independent predictors of RS: (1) Veau I/II cleft palate (OR = 38.8), (2) tongue shape index (>80%; OR = 8.7), and (3) inferior facial angle (<48°; OR = 14.5). CONCLUSION: MRI findings of cleft palate, TSI >80% and IFA <48° indicate a 98% probability of RS, whereas a lack of all 3 features denotes a likelihood of 1%.

Micrognathia and Oropharyngeal Space in Patients With Robin Sequence: Prenatal MRI Measurements.

PURPOSE: Micrognathia is the initiating feature of Robin sequence (RS) and leads to airway obstruction. Prenatal identification of micrognathia is currently qualitative and has not correlated with postnatal findings in previous studies. Oropharyngeal airway space has not been evaluated prenatally. The purposes of this study were to 1) quantitate mandibular characteristics and oropharyngeal size at prenatal magnetic resonance imaging (MRI) and 2) identify differences in fetuses with postnatal RS compared with those with micrognathia (without RS) and normal controls. MATERIALS AND METHODS: This is a retrospective case-control study of fetuses with prenatal MRIs performed from 2002 through 2017 who were live born and evaluated postnatally for craniofacial findings. Postnatal findings were used to divide patients into 3 groups: 1) RS (micrognathia, glossoptosis, and airway obstruction), 2) micrognathia without RS ("micrognathia"), and 3) a gestational-age matched control group with normal craniofacial morphology ("control"). Inferior facial angle (IFA), jaw index, and oropharyngeal space (OPS) were calculated and compared among groups. RESULTS: Of 116 patients in this study, 27 had RS (23%), 35 had micrognathia (30%), and 54 were control subjects (47%). IFA, jaw index, and OPS were statistically significantly smaller in the RS group compared with the comparison groups (P < .0001). CONCLUSIONS: Prenatal MRI measurements of micrognathia and OPS are considerably different in patients with RS compared with other groups, including those with micrognathia alone. These measurements might serve as reliable prenatal predictors of RS.

Pathogenesis of Cleft Palate in Robin Sequence: Observations From Prenatal Magnetic Resonance Imaging.

PURPOSE: The etiology of the palatal cleft in Robin sequence (RS) is unknown. The purpose of this study was to assess the position of the fetal tongue at prenatal magnetic resonance imaging (MRI) and to suggest a potential relation between tongue position and development of the cleft palate seen in most patients with RS. MATERIALS AND METHODS: This is a retrospective case-and-control study including fetuses with prenatal MRIs performed in the authors' center from 2002 to 2017. Inclusion criteria were 1) prenatal MRI of adequate quality, 2) liveborn infant, and 3) postnatal diagnosis of RS (Robin group) or cleft lip and palate (CLP group). Patients with postnatal RS without a palatal cleft were excluded. A control group with normal facial morphology was matched by gestational age. The outcome variable was tongue position at fetal MRI, described as within the cleft, along the floor of the mouth (normal), other, or indeterminate. RESULTS: One hundred twenty-two patients with mean gestational age at MRI of 25.8 ± 4.9 weeks were included (Robin, n = 21 [17%]; CLP, n = 47 [39%]; control, n = 54 [44%]). The tongue was visualized within the palatal cleft in 76.2% of the Robin group and 4.3% of the CLP group. The tongue was found along the floor of the mouth (normal) in the remainder of the Robin and CLP groups and in 100% of the control group. CONCLUSION: These findings suggest a relation between in utero tongue position and the development of cleft palate in RS.