Ultrasound and fetal magnetic resonance imaging: Clinical performance in the prenatal diagnosis of orofacial clefts and mandibular abnormalities

Abstract

Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second‐ and third‐trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low‐risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at‐risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second‐line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.

Decollatio (decapitation): early catastrophic event detected by transvaginal three‐dimensional ultrasound with pathological confirmation

“…Phy h, physiological hernia; Uc, umbilical cord with physiological hernia. Image (a) is reproduced from Tonni et al 11 …”

An Innovative Three-Stage Model for Prenatal Genetic Disorder Detection Based on Region-of-Interest in Fetal Ultrasound

“…Prenatal diagnosis plays a crucial role in preventing the birth of severely disabled children. Current ultrasound diagnostic techniques are indispensable for prenatal diagnosis, enabling the identification of abnormal fetal structural development and genetic information [7][8][9][10][11]. However, prenatal diagnosis based on ultrasound imaging faces challenges such as inconsistent diagnostic criteria, a shortage of medical personnel, a lack of dynamic monitoring methods, and limited coverage [12,13].…”

Craniofacial phenotyping with fetal MRI: A feasibility study of 3D visualisation, segmentation, surface-rendered and physical models

“…Zemet (2020), Gai (2022), Arangio (2013) and co-authors, confirmed the added diagnostic value of fetal MRI for evaluation of fetal craniofacial anomalies in retrospective studies comparing MRI and US [10–12]. Other studies have focussed on the MRI imaging of specific features, pathology and measurements within the craniofacial anatomy, for example; the orbits [13–15]; orofacial clefts, including cleft lip and palate [16–21]; inner, middle and external ear structures[22–25]; the upper and lower jaw [26–28]; and skull shape deformities to include craniosynostosis [29–31]. Due to the relative rarity of craniofacial malformations, most MRI studies are retrospective in nature, consist of case series and case studies, and there is a lack of control subjects to assess diagnostic accuracy in a clinical setting.…”