Imaging Prenatal Diagnosis of Cleft Lip and Palate in Brazil: Frequency and Familial Impact

Document Type : Original Article


1 Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP), São Paulo, Brazil

2 São Paulo State University, Araraquara School of Dentistry (UNESP-FoAr), São Paulo, Brazil


Background and aim: The ultrasound evaluation of the fetal face for the detection of orofacial clefts is the most common diagnosis. This study analyzed the frequency of patients whose orofacial clefts diagnosed prenatally. Concordance of prenatal diagnosis and postnatal outcomes, and the impact of prenatal diagnosis.
Materials and methods: The sample was composed of 200 children (age of 0-36 months) relatives, with any orofacial cleft, regardless of ethnicity, gender, or socioeconomic background. A self-administered questionnaire responded, and descriptive statistics and Fisher exact test analyzed the results.
Results: Among the 200 children, 25.5% had diagnosed prenatally. There was concordance between prenatal diagnosis and outcome in 62.7% of cases, which is similar for all clefts (p=0.81). Less than entirely accurate prenatal diagnosis occurred in 37.2%. Under the 51 families that had a prenatal diagnosis, 66.6% considered the opportunity as favorable. Among the convenient reasons, 58.8% of the families mentioned the possibility to prepare themselves.
Conclusion: One-quarter of patients diagnosed prenatally and less than entirely accurate findings occurred in more than a third of the cases diagnosed. Despite that, families often report prenatal diagnosis as helpful for the acceptance of the condition and psychological preparation before the child is born.


Main Subjects

  1. Jones K. Dysmorphology. In: Berman R, RM K, HB J (editors). Nelson Textbook of Pediatrics. 17th ed. Philadelphia: WB Saunders 2004:pp 616–23.
  2. L.S. Chitty, G.H. Hunt, J. Moore, M.O. Lobb. Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population. BMJ. 1991; 303:1165–1169.
  3. R. Chmait, D. Pretorius, T. Moore, A. Hull, G. James, T. Nelson, et al. Prenatal detection of associated anomalies in fetuses diagnosed with cleft lip with or without cleft palate in utero. Ultrasound Obstet Gynecol. 2006;27:173–176.
  4. J.E. Christ, M.G. Meininger. Ultrasound diagnosis of cleft lip and cleft palate before birth. Plast Reconstr Surg. 1981; 68:854–9.
  5. M.I. Evans, R.F. Hume, M.P. Johnson, M.C. Treadwell, E.L. Krivchenia, I.E. Zador, et al. Integration of genetics and ultrasonography in prenatal diagnosis: just looking is not enough. Am J Obstet Gynecol. 1996;174:1925-31; discussion 1931-1933.
  6. R. Nicot, G. Couly, J. Ferri, J.M. Levaillant. Three-dimensional printed haptic model from a prenatal surface-rendered oropalatal sonographic view: a new tool in the surgical planning of cleft lip/palate. Int J Oral Maxillofac Surg. 2018;47:44–47.
  7. R. Nicot, C. Druelle, E. Hurteloup, J.M. Levaillant. Prenatal craniofacial abnormalities: from ultrasonography to 3D-printed model. Ultrasound Obstet Gynecol. 2019.
  8. W. Zheng, B. Li. The prenatal diagnosis and classification of cleft palate : the role and value of magnetic resonance imaging. 2019;1.
  9. C.J. Babcook, J.P. McGahan, B.W. Chong, W.R. Nemzek, M.S. Salamat. Evaluation of fetal midface anatomy related to facial clefts: use of US. Radiology. 1996;201:113–118.
  10. C. Rey-Bellet, J. Hohlfeld . Prenatal diagnosis of facial clefts: evaluation of a specialised counselling. Swiss Med Wkly. 2004;134:640–644.
  11. J.M. Robbins, P. Damiano, C.M. Druschel, C.A. Hobbs, P.A. Romitti, A.A. Austin, et al. Prenatal Diagnosis of Orofacial Clefts: Association With Maternal Satisfaction, Team Care, and Treatment Outcomes. Cleft Palate-Craniofacial J. 2010; 47:476–481.
  12. V.P. Sreejith, V. Arun, A.P. Devarajan, A. Gopinath, M. Sunil. Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review. Contemp Clin Dent. 2018;9:304–308.
  13. R.P. Strauss, M.C. Sharp, S.C. Lorch, B. Kachalia. Physicians and the communication of "bad news&quot: parent experiences of being informed of their child’s cleft lip and/or palate. Pediatrics. 1995;96:82–89.
  14. R.P. Strauss, C.H. Cassell. Critical issues in craniofacial care: quality of life, costs of care, and implications of prenatal diagnosis. Acad Pediatr. 2009;9:427–432.
  15. J.D. Liou, Y.H. Huang, T.H. Hung, C.L. Hsieh, T.T. Hsieh, L.M. Lo. Prenatal diagnostic rates and postnatal outcomes of fetal orofacial clefts in a Taiwanese population. Int J Gynaecol Obstet. 2011;113:211–214.
  16. Strauss R. Prenatal diagnosis: impacts on cleft care, quality of life and ethics (Personal communication). 2009.
  17. H. Berggren, E. Hansson, A. Uvemark, H. Svensson, M. Becker. Prenatal compared with postnatal cleft diagnosis: What do the parents think? J Plast Surg Hand Surg. 2012 ;46:235–241.
  18. A. Barba, C. Urbina, L. Maili, M.R. Greives, S.J. Blackwell, J.B. Mulliken, et al. Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res. 2019;5:2.1504.
  19. D.A. Nyberg, G.K. Sickler, F.N. Hegge, D.J. Kramer, R.J. Kropp. Fetal cleft lip with and without cleft palate: US classification and correlation with outcome. Radiology. 1995;195:677–684.
  20. D.H. Pretorius, M. House, T.R. Nelson, K.A. Hollenbach. Evaluation of normal and abnormal lips in fetuses: comparison between three- and two-dimensional sonography. AJR Am J Roentgenol. 1995;165:1233–1237.
  21. G. da Silva Dalben. Termination of pregnancy after prenatal diagnosis of cleft lip and palate--possible influence on reports of prevalence. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;107:759–762.
  22. R.P. Strauss. Beyond Easy Answers: Prenatal Diagnosis and Counseling During Pregnancy. Cleft Palate-Craniofacial J. 2002;39:164–168.
  23. D.C. Wertz, J.C. Fletcher. Feminist criticism of prenatal diagnosis: a response. Clin Obstet Gynecol. 1993;36:541–367.
  24. T.Y. Khong. Ethical considerations of the perinatal necropsy. J Med Ethics. 1996 A;22:111–114.
  25. E. Calzolari, F. Bianchi, M. Rubini, A. Ritvanen, A.J. Neville, EUROCAT Working Group. Epidemiology of Cleft Palate in Europe: Implications for Genetic Research. Cleft Palate-Craniofacial J. 2004;41:244–249.
  26. Z. Li, A. Ren, J. Liu, L. Zhang, R. Ye, S. Li, et al. High prevalence of orofacial clefts in Shanxi Province in northern China, 2003-2004. Am J Med Genet A. 2008;146A:2637–2643.
  27. K. Offerdal, N. Jebens, T. Syvertsen, H.G.K Blaas, O.J. Johansen, S.H. Eik-Nes. Prenatal ultrasound detection of facial clefts: a prospective study of 49,314 deliveries in a non-selected population in Norway. Ultrasound Obstet Gynecol. 2008;3:639–646.
  28. M.C. Jones. Prenatal Diagnosis of Cleft Lip and Palate: Detection Rates, Accuracy of Ultrasonography, Associated Anomalies, and Strategies for Counseling. Cleft Palate-Craniofacial J. 2002;39:169–173.
  29. M.S. Matthews, M. Cohen, M. Viglione, A.S. Brown. Prenatal counseling for cleft lip and palate. Plast Reconstr Surg. 1998;101:1–5.
  30. M.C. Jones. Prenatal diagnosis of cleft lip and palate: experiences in Southern California. Cleft Palate Craniofac J. 1999;36:107–109.