Fetal MRI pp 279-286 | Cite as

The Prenatal Diagnosis of Facial Clefts with Fetal MRI

  • Mariella Mailáth-Pokorny
  • Daniela Prayer
Part of the Medical Radiology book series (MEDRAD)


Orofacial clefts are among the most common congenital anomalies caused by abnormal facial development during gestation. As prenatal ultrasonography becomes a routine practice in pregnancy, antenatal detection of facial clefts is possible and improves adequate counseling of the prospective parents and planning of obstetrical and neonatal management. However, the prenatal detection rate, especially of isolated cleft palate, is low. Limitations of ultrasonography include acoustic shadowing from the surrounding structures, poor image quality in case of lack of amniotic fluid or maternal obesity, and limited soft tissue contrast. Fetal MRI is a valuable alternative to ultrasonography providing superior tissue contrast and imaging planes in any orientation regardless of the fetal lie and is increasingly used for detailed assessment of inconclusive sonographic findings. In this article, we describe our experience in evaluating the accuracy of both, prenatal ultrasound and magnetic resonance imaging in detecting the position and extent of a cleft as well as the presence of any associated anomalies.


Amniotic Fluid Tooth Germ Alveolar Ridge Fetal Magnetic Resonance Image Orofacial Cleft 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Bellis, T.H., Orth, M., Wolgemuth, B.: The incidence of cleft lip and palate deformities in the south-east of Scotland. Br J Orthod 26, 121–125 (1999)PubMedCrossRefGoogle Scholar
  2. Bender, P.L.: Genetics of cleft lip and palate. J Pediatr Nurs 15, 242–249 (2000)PubMedCrossRefGoogle Scholar
  3. Berge, S.J., Palth, H., Van de Vondel, P.T., Appel, T., Niederhagen, B., Von Lindern, J.J., Reich, R.H., Hansmann, M.: Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses. Ultrasound Obstet Gynecol 18, 422–431 (2001)PubMedCrossRefGoogle Scholar
  4. Chmait, R., Pretorius, D., Jones, M., Hull, A., James, G., Nelson, T., Moore, T.: Prenatal evaluation of facial clefts with two-dimensional and adjunctive three-dimensional ultrasonography: a prospective trial. Am J Obstet Gynecol 187, 946–949 (2002)PubMedCrossRefGoogle Scholar
  5. Chmait, R., Pretorius, D., Moore, T., Hull, A., James, G., Nelson, T., Jones, M.: Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero. Ultrasound Obstet Gynecol 27, 173–176 (2006)PubMedCrossRefGoogle Scholar
  6. Chitty, L.S., Hunt, G.H., Moore, J., Loob, M.O.: Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in low risk population. Br Med J 303, 1165–1169 (1991)CrossRefGoogle Scholar
  7. Davalbhakta, A., Hall, P.N.: The impact of antenatal diagnosis on the effectiveness and timing of counseling for cleft lip and palate. Br J Plastic Surg 53, 298–301 (2000)CrossRefGoogle Scholar
  8. Demircioglu, M., Kangesu, L., Ismail, A., Lake, E., Hughes, J., Wright, S., Sommerland, B.C.: Increasing accuracy of antenatal ultrasound diagnosis of cleft lip with or without cleft palate, in cases referred to the North Thames London Region. Ultrasound Obstet Gynecol 31, 647–651 (2008)PubMedCrossRefGoogle Scholar
  9. Derijcke, A., Eerens, A., Carels, C.: The incidence of oral clefts: a review. Br J Oral Maxillofac Surg 34, 488–494 (1996)PubMedCrossRefGoogle Scholar
  10. Ghi, T., Tani, G., Savelli, L., Colleoni, G.G., Pilu, G., Bovicelli, L.: Prenatal imaging of facial clefts by magnetic resonance imaging with emphasis on the posterior palate. Prenat Diagn 23, 970–975 (2003)PubMedCrossRefGoogle Scholar
  11. Gorlin, R.J., Cervenka, J., Pruzansky, S.: Facial clefting and its syndromes. Birth Defects Orig Artic Ser 7, 3–49 (1971)PubMedGoogle Scholar
  12. Gorlin, R.J., Cohen, M.M., Hennekam, R.C.M.: Syndromes of the Head and Neck, 4th edn. Oxford University Press, New York (2001)Google Scholar
  13. Kennely, M.M., Moran, P.: Directional power Doppler in the midsagittal plane as an aid to the prenatal diagnosis of cleft lip and palate. Prenat Diagn 28, 56–58 (2008)CrossRefGoogle Scholar
  14. Mailáth-Pokorny, M., Worda, C., Krampl-Bettelheim, E., Watzinger, F., Brugger, P.C., Prayer, D.: What does magnetic resonance imaging add to the prenatal ultrasound diagnosis of facial clefts? Ultrasound Obstet Gynecol 36, 445–451 (2010)PubMedCrossRefGoogle Scholar
  15. Merz, E., Weber, G., Bahlmann, F., Miric-Tesanic, D.: Application of transvaginal and abdominal three-dimensional ultrasound for the detection or exclusion of malformations of the fetal face. Ultrasound Obstet Gynecol 9, 237–243 (1997)PubMedCrossRefGoogle Scholar
  16. Murray, J.C.: Face facts: Genes, environment, and clefts. Am J Hum Genet 57, 227–232 (1995)PubMedGoogle Scholar
  17. Nyberg, D.A., Mahony, B.S., Kramer, D.: Paranasal echogenic mass: sonographic sign of bilateral complete cleft lip and palate before 20 menstrual weeks. Radiology 184, 757–759 (1992)PubMedGoogle Scholar
  18. Nyberg, D.A., Sickler, G.K., Hegge, F.N., Kramer, D.J., Kropp, R.J.: Fetal cleft lip with and without cleft palate: US classification and correlation with outcome. Radiology 195, 677–684 (1995)PubMedGoogle Scholar
  19. Offerdal, K., Jebens, N., Syvertsen, T., Blaas, H.-G.K., Johansen, O.J., Eik-Nes, S.H.: Prenatal ultrasound detection of facial clefts: a prospective study of 49314 deliveries in a non-selected population in Norway. Ultrasound Obstet Gynecol 31, 639–646 (2008)PubMedCrossRefGoogle Scholar
  20. Ortiz-Posadas, M.R., Vega-Alvarado, L.V., Maya-Behar, J.M.: A new approach to classify cleft lip and palate. Cleft Palate Craniofacial J 38, 545–550 (2001)CrossRefGoogle Scholar
  21. Papadopulos, N.A., Papadopoulos, M.A.: Can intrauterine surgery improve the quality of life of cleft lip and palate patients? Hippokratia 7, 59–80 (2003)Google Scholar
  22. Perrotin, F., Mabille de Poncheville, L., Marret, H., Paillet, C., Lansac, J., Body, G.: Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate. Eur J Obstet Gynecol Reprod Biol 99, 19–24 (2001)PubMedCrossRefGoogle Scholar
  23. Pistorius, L.R., Hellmann, P.M., Visser, G.H.A., Malinger, G., Prayer, D.: Fetal neuroimaging: Ultrasound, MRI, or both? Obstet Gynecol Surv 63, 733–745 (2008)PubMedCrossRefGoogle Scholar
  24. Prayer, D.: Fetal MRI. Eur J Radiol 57, 171 (2006)PubMedCrossRefGoogle Scholar
  25. Pugash, D., Brugger, P.C., Bettelheim, D., Prayer, D.: Prenatal ultrasound and fetal MRI: the comparative value of each modality in prenatal diagnosis. Eur J Radiol 68, 214–226 (2008)PubMedCrossRefGoogle Scholar
  26. Rotten, D., Levaillant, J.M.: Two and three dimensional songraphic assessment of the fetal face: analysis of cleft lip, alveolus and palate. Ultrasound Obstet Gynecol 24, 402–411 (2004)PubMedCrossRefGoogle Scholar
  27. Royal College of Obstetricians and Gynecologists Working Party: Routine Ultrasound Screening in Pregnancy-Protocol, Standards and Training. RCOG Press, London (2000)Google Scholar
  28. Russell, K.A., Allen, V.M., Mac Donald, M.E., Smith, K., Dodds, L.: A population- based evaluation of antenatal diagnosis of orofacial clefts. Cleft Palate Cran J 45, 148–153 (2008)CrossRefGoogle Scholar
  29. Schutte, B.C., Murray, J.C.: The many faces and factors of orofacial clefts. Hum Molec Genet 8, 1853–1859 (1999)CrossRefGoogle Scholar
  30. Shaikh, D., Mercer, N.S., Sohan, K., Kyle, P., Soothill, P.W.: Prenatal diagnosis of cleft lip and palate. Br J Plast Surg 54, 288–289 (2001)PubMedCrossRefGoogle Scholar
  31. Sherer, D.M., Abramowicz, J.S., Jaffe, R., Woods, R.: Cleft palate: confirmation of prenatal diagnosis by colour Doppler ultrasound. Prenat Diagn 13, 953–956 (1993)PubMedCrossRefGoogle Scholar
  32. Stelnicki, E.J., Lee, S., Hoffman, W., Lopoo, J., Foster, R., Harrison, M.R., Longaker, M.T.: A long-term, controlled-outcome analysis of in utero versus neonatal cleft lip repair using an ovine model. Plast Reconstr Surg 104, 607–615 (1999)PubMedGoogle Scholar
  33. Stoll, C., Alembik, Y., Dott, B., Roth, M.P.: Associated malformations in cases with oral clefts. Cleft Palate Craniofacial J 37, 41–47 (2000)CrossRefGoogle Scholar
  34. Stroustrup Smith, A., Estroff, J.A., Barnewolt, C.E., Mulliken, J.B., Levine, D.: Prenatal diagnosis of cleft lip and palate using MRI. AJR Am J Roentgenol 183, 229–235 (2004)PubMedCrossRefGoogle Scholar
  35. Ulm, M.R., Kratochwil, A., Ulm, B., Aro, G., Bernaschek, G.: Three-dimensional ultrasound evaluation of fetal tooth germs. Ultrasound Obstet Gynecol 12, 240–243 (1998)PubMedCrossRefGoogle Scholar
  36. Weinzweig, J., Panter, K.E., Seki, J., Pantaloni, M., Spangenberger, A., Harper, J.S.: The fetal cleft palate: IV. Midfacial growth and bony palatal development following in utero and neonatal repair of the congenital caprine model. Plast Reconstr Surg 118, 81–93 (2006)PubMedCrossRefGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 2010

Authors and Affiliations

  1. 1.Department of Obstetrics and GynecologyMedical University of ViennaViennaAustria
  2. 2.Department of RadiodiagnosticsMedical University of ViennaViennaAustria

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