Can Robin Sequence Be Predicted From Prenatal Ultrasonography?

Purpose: Prenatal diagnosis of Robin sequence (RS) could promote safe delivery and improve perinatal care. The purpose of this study was to evaluate the correlation between prenatal ultrasonography (US) and magnetic resonance imaging (MRI) studies for assessing micrognathia to determine if US alone can be used to reliably screen for RS. Materials and Methods: This was a retrospective case-control study of fetuses evaluated in the Advanced Fetal Care Center at Boston Children's Hospital from 2002 to 2017. To be included, 1) prenatal MRI and US must have been performed during the same visit, 2) the infant must have been live-born, and 3) the diagnosis must have been confirmed postnatally. Patients with images of inadequate quality for analysis were excluded. Patients were divided into 4 groups based on postnatal diagnosis: 1) RS (micrognathia, glossoptosis, and airway obstruction) (RS group), 2) micrognathia without RS (micrognathia group), 3) cleft lip and palate (CLP) without micrognathia (CLP group), and 4) gestational age–matched controls with normal craniofacial morphology (control group). The inferior facial angle (IFA) was measured using both imaging modalities and compared. Receiver operating characteristic curves were applied to identify a threshold for the diagnosis of RS from US. The sensitivity, specificity, positive predictive value, negative predictive value, and odds ratio were calculated. Results: A total of 94 patients were included (mean gestational age at imaging, 24.9 ± 5.2 weeks), with 25 in the RS group (26.6%), 29 in the micrognathia group (30.9%), 23 in the CLP group (24.5%), and 17 in the control group (18.1%). The IFA was significantly smaller in the RS group than in all other groups on both US and MRI (P <.001). A moderate correlation was found between IFA measurements on US and MRI (intraclass correlation coefficient, 0.729). An IFA threshold on US of 45.5° maximized sensitivity (84%) and specificity (81%) for the diagnosis of RS. Conclusions: We suggest incorporating the IFA into routine prenatal US and referring patients for confirmatory MRI when the US IFA is lower than 45.5°.

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