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Foreword; Preface; Contents; Contributors; Part I: Prenatal Diagnosis of Orofacial Malformations; 1: Orofacial Clefts in the Fetus: What We Know and What We Should Know; 1.1 Introduction; 1.2 Epidemiology and Incidence; 1.3 Genetics of Orofacial Clefts; 1.4 Associated Fetal Malformations; 1.5 Accuracy of 2D and 3D Ultrasound in the Prenatal Detection of CL/P: First Versus Second Trimester of Pregnancy; 1.6 The Role of 2D Ultrasound; 1.7 The Role of 3D Ultrasound; 1.8 The Role and Value of Ultrasound-Targeted MRI (Magnetic Resonance Imaging); References; 2: The Genetics of Facial Cleft.

Part 1. Prenatal diagnosis of orofacial malformations. Chapter 1. Orofacial clefts in the fetus: what we know and what we should know / Gabriele Tonni, Waldo Sepulveda, Amy E. Wong -- Chapter 2. The genetics of facial cleft / Arie Koifman, Susan Blaser, David Chitayat -- Chapter 3. Evaluation of the fetal face in the first trimester / Waldo Sepulveda, Amy E. Wong, Pilar Martínez-Ten, Gabriele Tonni -- Chapter 4. The role of 2D/3D/4D ultrasound in the prenatal assessment of cleft lip and palate / Pilar Martínez-Ten, Waldo Sepulveda, Amy E. Wong, Gabriele Tonni -- Chapter 5. 2D/3D/4D ultrasound of the fetal face in genetic syndromes -- Chapter 6. Prenatal diagnosis of head and neck tumors / Gabriele Tonni, Marcella Palmisano, Roberto Granese, Maria Paola Bonasoni -- Chapter 7. Micrognathia / Edward Aruajo Júnior, Eduardo Felix Martins Santana, Gabriele Tonni, Amy E. Wong, Waldo Sepulveda -- Chapter 8. Magnetic resonance imaging (MRI) in the evaluation of the fetal face / Francisco Sepulveda, Gerlinde M. Gruber, Daniela Prayer -- Chapter 9. The fetal brain in fetuses with orofacial abnormalities / Gustavo Malinger -- Chapter 10. Development and autopsy assessment of the head and face / J. Ciaran Hutchinson, Neil J. Sebire -- Chapter 11. Postnatal management of cleft lip and palate / Fabio Xerfan Nahas, Natasha Sallum, Lydia Masako Ferreira -- Part 2. Interesting cases and rare syndromes. Chapter 12. Binder Syndrome: prenatal diagnosis, management, and prognosis / Edward Araujo Júnio, Gabriele Tonni, Waldo Sepulveda -- Chapter 13. Atypical facial cleft detected by prenatal scan and confirmed by postmortem reconstructed computed tomography (CT REC) / Inbal Dona Amar, Yaakov Melcer, Rebecca Cohn, Ron Maymon -- Chapter 14. Congential subcutaneous mixed venous-lymphatic orofacial malformation associated with macroglossia: prenatal diagnosis with ultrasound and fetal MRI / Marcello Napolitano, Alice Munari, Anna Ravelli, Anna Venegoni -- Chapter 15. Acromelic frontonasal dysplasia (median cleft face syndrome) / Mario Lituania, Gabriele Tonni -- Chapter 16. Prenatal diagnosis of severe midfacial hypoplasia using 3D ultrasound / Gabriele Tonni, Jurandir Piassi Passos, Mario Lituania -- Chapter 17. 3D virtual model reconstruction by 3D ultrasound volume data sets in a case of prenatally diagnosed agnathia/otocephaly complex associated with multiple congenital anomalies / Heron Werner, Gabriele Tonni, Gláucia Aparecida Menezes, Edward Araujo Júnior -- Chapter 18. Unilateral agenesis of the mandible (agnathia) in a fetus with 4p-/10q duplication associated with balanced paternal cryptic 4p/10q translocation: multidisciplinary management of a complex case / Lucia Rosignoli, Gabriele Tonni, Elisabetta Pelo, Marco di Maurizio -- Chapter 19. Prenatal diagnosis of Beckwith-Wiedemann syndrome using 3D ultrasound and fetal MRI / Heron Werner, Gabriele Tonni -- Chapter 20. Prenatal diagnosis of Tessier 7 cleft in a case of femoral hypoplasia-unusual facies syndrome with associated absent fibula and digit abnormalities / Gianpaolo Grisolia, Gabriele Tonni -- Chapter 21. Median cleft lip and palate, cutaneous nasal polyps, and corpus callosum lipoma: a case of Pai syndrome associated with ventricular septal defects / Jose H. Ochoa, Rolando P. Vildoza, Adriana Echegaray, Alejandra Colubriale.

2.1 Introduction2.2 Embryology; 2.2.1 Development of the Face; 2.3 Non-syndromic Cleft Lip/Cleft Palate and Cleft Palate; 2.4 Syndromic Cleft Lip/Palate and Cleft Palate; 2.4.1 Chromosomal Abnormalities; 2.4.2 Microdeletion/Microduplication Syndromes; 2.5 Mendelian Syndromes Associated with Cleft Lip/Palate; 2.5.1 Autosomal Dominant (AD); 2.5.2 Autosomal Recessive (AR); 2.5.3 X-Linked; 2.5.4 Facial Clefts; 2.5.5 Midline Clefts; 2.5.6 Oblique Clefts; 2.5.7 Lateral Clefts; 2.6 Summary and Recommendations; 2.7 Investigation; References.

3: Evaluation of the Fetal Face in the First Trimester3.1 Introduction; 3.2 Normal Ultrasound Anatomy of the Fetal Face in the First Trimester; 3.3 Retronasal Triangle View; 3.4 3D Ultrasound Evaluation of the Fetal Face in the First Trimester; 3.5 First-Trimester 2D/3D Ultrasound in Selected Facial Malformations; 3.5.1 Cleft Lip and Palate; 3.5.2 Micrognathia; 3.5.3 Cyclopia and Proboscis; 3.5.4 Frontal Cephalocele; 3.5.5 Agnathia-Holoprosencephaly Sequence; 3.5.6 Miscellaneous Conditions; References.

4: The Role of 2D/3D/4D Ultrasound in the Prenatal Assessment of Cleft Lip and Palate4.1 Introduction; 4.2 Assessment with 2D ultrasound; 4.3 Exploration with 3D ultrasound; 4.3.1 "Reverse Face" View; 4.3.2 "Flipped Face" View; 4.3.3 "Oblique Face" View; 4.4 Do We Need to Include the 3D Ultrasound Evaluation of the Secondary Palate in the Anatomy Assessment in the Second Trimester?; References; 5: 2D/3D/4D Ultrasound of the Fetal Face in Genetic Syndromes; 5.1 Introduction; 5.2 The Dysmorphology Examination; 5.2.1 The Face; 5.2.2 Profile Views; 5.2.3 Coronal Views.

5.2.4 The Rest of the Examination5.3 Facial Malformation as a Sign of a Complex Syndrome; 5.3.1 The Cleft Lip-Palate; 5.3.2 Abnormalities of the Ears; 5.3.3 Micrognathia; 5.3.4 Profile Abnormalities; 5.4 Down Syndrome; 5.5 Binder Syndrome; 5.5.1 Associated Malformations; 5.5.1.1 Skin and Skeleton; References; 6: Prenatal Diagnosis of Orofacial and Neck Tumors; 6.1 Tumor of the Face; 6.2 Vascular Anomalies; 6.2.1 Embryology and Pathology; 6.2.2 Embryology and Pathology; 6.3 Tumors of the Oral Cavity and Oropharynx Teratomas; 6.3.1 Classification; 6.3.2 Embryology and Pathology.

This book describes how different diagnostic techniques may facilitate the prenatal identification of orofacial malformations. The role of standard two-dimensional ultrasound is documented and explained, but detailed attention is also paid to the use of three-dimensional (3D) ultrasound, including the novel 3D reslicing technique, and to the value of complementary magnetic resonance imaging. The malformations considered include cleft lip, cleft lip and palate, ocular malformations, abnormalities associated with fetal aneuploidy, and tumors. These conditions are depicted in numerous high-quality images accompanied by thorough and informative descriptions of imaging findings. The excellence of the illustrative material and the caliber of the authors, who are leading international experts in the field, ensure that Prenatal Diagnosis of Orofacial Malformations will be an invaluable tool for obstetricians and gynecologists.

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