Imaging of the Fetal Zygomatic Bone

Abstract

Objectives-First arch syndromes are congenital defects caused by failure of neural crest cells to migrate into the first branchial arch. First arch syndrome is classified into 2 main clinical manifestations: Treacher Collins syndrome, characterized by bilateral underdevelopment of the zygomatic bones; and Pierre Robin sequence. The aim of this study was to describe the feasibility of visualization of the fetal zygomatic bone and assess its application in cases referred for features suggestive of first arch syndrome. Methods-A prospective cohort study was conducted. The feasibility of visualization of the zygomatic bone was performed in 50 sequential fetuses with a normal anatomic scan between 12 and 24 weeks' gestation using 3-dimensional sonography. Following this, cases referred for targeted scans for suspected first branchial arch syndrome were assessed for the presence or absence of the zygomatic bones. Results-Visualization of the fetal zygomatic bone was feasible in all low-risk cases. Cases referred for targeted scans included 11 isolated cases of micrognathia or retrognathia, 3 cases of microtia, and 3 cases of auricular or facial vestiges. Within this group, the zygomatic bones were visualized in all but 2 cases. No associated extrafacial malformations were detected; therefore, this phenotype was consistent with Treacher Collins syndrome. Conclusions-Prenatal imaging of the zygomatic bones offers a clinically based sonographic approach to cases referred for features suggestive of first arch syndrome and enables differentiation between the 2 main clinical manifestations: Treacher Collins syndrome and Pierre Robin sequence.

The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic Diseases

“…Chromosomal diseases are the most common genetic diseases and the leading causes of congenital disability. Abnormal facial manifestations usually accompany patients with chromosomal genetic syndromes [38][39][40][41]. With the rapid development of CNN technology, automatic facial recognition technology has been widely studied and developed in recent years.…”

Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review

“…Microtia and micrognathia or metrognathia were detected in 72% and 78% of cases, respectively. Bilateral down‐slanting palpebral fissures and hypoplastic zygomatic arches are characteristic features of TCS, 7 but showed low detection rates of 33% and 17%, respectively, by prenatal sonography. Pierre Robin sequence should not be the final diagnosis based on the anatomical triad of retrognathia or micrognathia, glossoptosis, and U‐shaped posterior cleft palate, 8 and TCS should also be suspected.…”

“…Neglecting bilateral palpebral fissures and zygomatic bone led to misdiagnosis in our patient. Visualizing the fetal zygomatic bone enables differentiation between the two main clinical manifestations 7 . Bilateral down‐slanting palpebral fissures could increase diagnostic confidence of TCS.…”