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  • © 2017

Prenatal Diagnosis of Orofacial Malformations

  • Offers clear and detailed guidance on the early diagnosis of facial malformations in the fetus ?
  • Includes numerous high-quality images
  • Written by leading international experts in the field
  • Includes interesting and rare clinical cases

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Table of contents (21 chapters)

  1. Front Matter

    Pages i-xvii
  2. Prenatal Diagnosis of Orofacial Malformations

    1. Front Matter

      Pages 1-1
    2. Orofacial Clefts in the Fetus: What We Know and What We Should Know

      • Gabriele Tonni, Waldo Sepulveda, Amy E. Wong
      Pages 3-8
    3. The Genetics of Facial Cleft

      • Arie Koifman, Susan Blaser, David Chitayat
      Pages 9-17
    4. Evaluation of the Fetal Face in the First Trimester

      • Waldo Sepulveda, Amy E. Wong, Pilar Martinez-Ten, Gabriele Tonni
      Pages 19-41
    5. 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
      Pages 43-59
    6. 2D/3D/4D Ultrasound of the Fetal Face in Genetic Syndromes

      • Pilar Martínez-Ten, Waldo Sepulveda, Gabriele Tonni
      Pages 61-79
    7. Prenatal Diagnosis of Orofacial and Neck Tumors

      • Gabriele Tonni, Marcella Palmisano, Roberta Granese, Maria Paola Bonasoni
      Pages 81-104
    8. Micrognathia

      • Edward Araujo Júnior, Eduardo Felix Martins Santana, Gabriele Tonni, Amy E. Wong, Waldo Sepulveda
      Pages 105-118
    9. Magnetic Resonance Imaging (MRI) in the Evaluation of the Fetal Face

      • Francisco Sepulveda, Gerlinde M. Gruber, Daniela Prayer
      Pages 119-130
    10. Development and Autopsy Assessment of the Fetal Head and Face

      • J. Ciaran Hutchinson, Neil J. Sebire
      Pages 143-156
    11. Postnatal Management of Cleft Lip and Palate

      • Fabio Xerfan Nahas, Natasha Sallum, Lydia Masako Ferreira
      Pages 157-162
  3. Interesting Cases and Rare Syndromes

    1. Front Matter

      Pages 163-163
    2. Binder Syndrome: Prenatal Diagnosis, Management, and Prognosis

      • Edward Araujo Júnior, Gabriele Tonni, Waldo Sepulveda
      Pages 165-170
    3. Acromelic Frontonasal Dysplasia (Median Cleft Face Syndrome)

      • Mario Lituania, Gabriele Tonni
      Pages 183-187
    4. Prenatal Diagnosis of Severe Midfacial Hypoplasia Using 3D Ultrasound

      • Gabriele Tonni, Jurandir Piassi Passos, Mario Lituania
      Pages 189-193

About this book

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.

Editors and Affiliations

  • Department of Obstetrics and Gynecology, Prenatal Diagnostic Service, Guastalla Civil Hospital AUSL Reggio Emilia, Reggio Emilia, Italy

    Gabriele Tonni

  • Maternal-Fetal Diagnostic Center, Fetalmed, Santiago, Chile

    Waldo Sepulveda

  • Department of Maternal-Fetal Medicine Palo Alto Medical Foundation, Mountain View, USA

    Amy E. Wong

About the editors

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 Queen’s 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. Dr. Gabriele 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 100 publications in peer-reviewed journals and serves as reviewer to more than 40 international journals. 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


Amy Wong is a Maternal-Fetal Medicine physician practicing at Palo Alto Medical Foundation 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 Degree. 

Bibliographic Information

  • Book Title: Prenatal Diagnosis of Orofacial Malformations

  • Editors: Gabriele Tonni, Waldo Sepulveda, Amy E. Wong

  • DOI: https://doi.org/10.1007/978-3-319-32516-3

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer International Publishing Switzerland 2017

  • Hardcover ISBN: 978-3-319-32514-9Published: 18 May 2017

  • Softcover ISBN: 978-3-319-81305-9Published: 17 May 2018

  • eBook ISBN: 978-3-319-32516-3Published: 09 May 2017

  • Edition Number: 1

  • Number of Pages: XVII, 219

  • Number of Illustrations: 39 b/w illustrations, 154 illustrations in colour

  • Topics: Obstetrics/Perinatology/Midwifery, Ultrasound

Buy it now

Buying options

eBook USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 109.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access