This second updated edition 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 this new edition of Prenatal Diagnosis of Orofacial Malformations will be an invaluable tool for obstetricians and gynecologists.
Part I. Prenatal Diagnosis of Orofacial Malformations.-
1. Orofacial
Clefts in the Fetus: What We Know and What We Should Know.-
2. The Genetics
of Facial Cleft.-
3. Evaluation of the Fetal Face in the First Trimester.-
4.
The Role of 2D/3D/4D Ultrasound in the Prenatal Assessment of Cleft Lip and
Palate.-
5. 2D/3D/4D Ultrasound of the Fetal Face in Genetic Syndromes.-
6.
Prenatal Diagnosis of Orofacial and Neck Tumors.-
7. Prenatal diagnosis of
ocular malformations in a clinical setting.-
8. Micrognathia.-
9. Fetal
Congenital Dacryocystocele.-
10. Hypotelorism and Hypertelorism.-
11.
Cebocephaly.-
12. Magnetic Resonance Imaging (MRI) in the Evaluation of the
Fetal Face.-
13. The Fetal Brain in Fetuses with Orofacial Abnormalities.-
14. Development and Autopsy Assessment of the Fetal Head and Face.-
15. Skull
development: normal findings and craniosynostosis.-
16. Postnatal Management
of Cleft Lip and Palate.-
17. Fetal Surgery for Cleft Lip and Palate:
rationale and evidence.- Part
2. Interesting Cases and Rare Syndromes.-
18.
Binder Syndrome: Prenatal Diagnosis, Management, and Prognosis.-
19. Atypical
Facial Cleft Detected by Prenatal Scan and Confirmed by Postmortem
Reconstructive Computed Tomography (CT REC).-
20. Congenital Subcutaneous
Mixed Venous-Lymphatic Orofacial Malformation Associated with Macroglossia:
Prenatal Diagnosis with Ultrasound and Fetal MRI.-
21. Congenital frontonasal
masses: A diagnostic challenge.-
22. Prenatal Diagnosis of Severe Midfacial
Hypoplasia Using 3D Ultrasound (IN UPDATING).-
23. 3D Virtual Model
Reconstruction by 3D Ultrasound Volume Data Sets in a Case of Prenatally
Diagnosed Agnathia/Otocephaly Complex Associated with Multiple Congenital
Anomalies.-
24. 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.-
25. Prenatal
Diagnosis of Beckwith-Wiedemann Syndrome Using 3D Ultrasound and Fetal MRI.-
26. Prenatal Diagnosis of Tessier 7 Cleft in a Case of Femoral
Hypoplasia-Unusual Facies Syndrome with Associated Absent Fibula and Digit
Abnormalities.-
27. Median Cleft Lip and Palate, Cutaneous Nasal Polyps, and
Corpus Callosum Lipoma: A Case of Pai Syndrome Associated with Ventricular
Septal Defects.-
28. Brachmann-de Lange syndrome: characteristic prenatal
sonographic facial features.-
29. Proboscis lateralis: Prenatal ultrasound
findings and management.-
30. Solitary Median Maxillary Central Incisor
Syndrome: prenatal diagnosis in three cases.-
31. Nager acrofacial
dysostosis. First-trimester sonographic findings and confirmation with exome
seuencing.-
32. Fetal oral mass.
Gabriele Tonni, PhD, MD, graduated Magna cum Laude in Obstetrics and Gynecology at the University of Parma. He is currently Consultant in Maternal-Fetal Medicine at Azienda Sanitaria Locale, Reggio Emilia, Italy. In the early 1990s, he has carried out research in the field of perinatal medicine investigating the role of intrapartum asphyxia and perinatal brain damage under the guidance of Professor James A. Low at the Queens University in Kingston, Canada. After gaining work experience in the United Kingdom, where he was granted RCOG certification in minimally invasive gynecologic surgery, he started to practice prenatal ultrasound diagnosis. He was trained in fetal invasive procedure at Nottingham City Hospital, under the guidance of Professor David T. Liu. He holds the Diploma in Fetal Medicine, the highest degree awarded by the Fetal Medicine Foundation, London. He has produced a PhD thesis on first trimester screening for fetal aneuploidy at University La Sapienza in Rome in 2000, the first publication on this clinical issue in Italy. Prof. Tonni has been devoted to develop applications for 3D ultrasound and fetal MRI in the antenatal detection of congenital anomalies, particularly to the study of fetal palate and orofacial malformations, in which he gained worldwide expertise. He has developed outstanding international collaborations and is currently involved in the applications of 3D virtual physical models of fetal abnormalities using 3D ultrasound volume and fetal MRI scan data. He has contributed to more than 240 publications in peer-reviewed journals (SCOPUS) with an H-index= 34 and had revised more than 600 manuscripts to more than 40 international journals (New England Journal of Medicine, American Journal of Obstetrics and Gynecology, European Journal of Obstetrics & Gynecology and Reproductive Biology, British Journal of Medicine, Archives of Gynecology and Obstetrics, Fetal Diagnosis & Therapy, Prenatal Diagnosis, American Journal of Medical Genetic Part A, Ultrasound in Obstetrics & Gynecology). He has been invited to attend many national and international congresses where he acted as chairman or lecturer and has attended the Fetal Medicine Center, Hospital Clinic, Barcelona University (Director: Prof. E. Gratacos). He is co-Editor of the Book 3D Pysical and Virtual Models in Fetal Medicine together with Prof. Heron Werner and Dr. Jorge Lopes, edited by Springer in 2023. He has coauthored 11 Chapters in different international medical books. He has been granted the position of Associate Professor of Obstetrcis & Gynecology by the Italian Ministry of the University and Research until November 2030. Prof. Tonni is the founder of the International Perinatology Research Group (IPRG) and currently serves as the Editor-in-Chief of the Journal of Clinical Ultrasound. Waldo Sepulveda, gynecologist, obstetrician and materno-fetal specialist. Director of the Center for Fetal Medicine, Las Condes Clinic, Santiago de Chile since September 1996. Director of the Center for Maternal-Fetal Diagnosis FETALMED in Santiago de Chile. Founder and Director of the Group of Interest in Fetal Medicine (GIMEF), a group that combines efforts from both the private and public sectors to develop research, teaching and assistance in the area of Fetal Medicine in Chile. Consultant doctor of the Hospital Base San José and Professor of Obstetrics and Fetal Medicine, University of Santiago de Chile. His academic production includes more than 200 scientific papers. Amy Wong, MD, MPH is a Maternal-Fetal Medicine physician with the Palo Alto Foundation Medical Group in California, USA. She received her undergraduate degree at Princeton University, her medical degree at the University of California, San Francisco, and Obstetrics and Gynecology training at Stanford University. Her subspecialty training in maternal-fetal medicine was performed at Northwestern University, where she also received her Master of Public Health.
