EP10.09: Added value of prenatal MR in the evaluation of fetal cleft lip, cleft palate and micrognathia

Abstract

The aim of this study was to describe MR findings and to determine the accuracy of fetal MRI in diagnosing fetal cleft lip, cleft palate, and micrognathia, either isolated, or in association with additional abnormalities. We reviewed our fetal MRI database from March 2011 through February 2017 and searched for exams referred for cleft lip, cleft palate, and/or micrognathia. A total of 37 fetal exams were identified. 7 cases were lost to follow up, 6 patients underwent termination of pregnancy. Anatomic facial landmarks and biometric parameters were documented including evaluation of the lips, maxillary ridge, position of the tongue, presence/absence of the palate, measurement of the jaw index to evaluate for micrognathia, and binocular and intraocular diameter to evaluate for hypo/hypertelorism. A complete fetal neuroevaluation was performed to detect additional anomalies. Findings on fetal MR were correlated post delivery. In the remaining cohort of 21 fetuses, 20 cases were diagnosed with positive findings. There were 6 diagnoses of cleft lip, 7 diagnoses of cleft lip and palate, 4 isolated micrognathia, 5 micrognathia with isolated cleft palate consistent with Pierre Robin sequence. Of the 21 fetuses, the MR diagnosis was confirmed following delivery in 17 cases. Syndromes that were seen with micrognathia included Dandy Walker, Frynn's, Emanuel, and mid-face hypoplasia syndromes. There was 1 false positive case of cleft lip and palate due to a tethered frenulum. Three cases are waiting to deliver. MRI has a 95.5% degree of accuracy in diagnosing fetal facial abnormalities, including isolated cleft lip, cleft lip with cleft palate, micrognathia with cleft palate (Pierre Robin syndrome), and isolated syndromic micrognathia with additional non-palatal abnormalities.