Volume 51, Issue 2 pp. 346-361
REVIEW

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

Gabriele Tonni

Corresponding Author

Gabriele Tonni

Prenatal Diagnostic Centre, Department of Obstetrics and Neonatology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), AUSL Reggio Emilia, Reggio Emilia, Italy

Correspondence

Gabriele Tonni, Prenatal Diagnostic Centre, Department of Obstetrics and Neonatology, and Researcher, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), AUSL Reggio Emilia, Reggio Emilia, Italy.

Email: [email protected]

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Alberto Borges Peixoto

Alberto Borges Peixoto

Department of Obstetrics and Gynecology, Federal University of Triângulo Mineiro (UFTM), Uberaba, Brazil

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Heron Werner

Heron Werner

Department of Fetal Medicine, Clínica de Diagnóstico por Imagem (CDPI - DASA), Rio de Janeiro, Brazil

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Gianpaolo Grisolia

Gianpaolo Grisolia

Department of Obstetrics and Gynecology, Carlo Poma Hospital, ASST Mantova, Mantova, Italy

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Rodrigo Ruano

Rodrigo Ruano

Division of Maternal-Fetal Medicine, UH Jackson Fetal Care, Miller School of Medicine, University of Miami, Miami, Florida, USA

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Francisco Sepulveda

Francisco Sepulveda

FETALMED–Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Santiago, Chile

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Waldo Sepulveda

Waldo Sepulveda

FETALMED–Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Santiago, Chile

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Edward Araujo Júnior

Edward Araujo Júnior

Department of Obstetrics, Paulista School of Medicine, Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil

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First published: 13 February 2023
Citations: 2

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.

DATA AVAILABILITY STATEMENT

Data sharing not applicable to this article as no datasets were generated or analyzed during this review.

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