Accuracy of prenatal three-dimensional ultrasound in the diagnosis of cleft hard palate when cleft lip is present

Ultrasound Obstet Gynecol. 2011 Oct;38(4):440-4. doi: 10.1002/uog.8933. Epub 2011 Aug 25.

Abstract

Objective: To investigate the accuracy of prenatal axial three-dimensional (3D) ultrasound in predicting the absence or presence of cleft palate in the presence of cleft lip.

Methods: Between March 2005 and January 2009, there were 81 cases with a prenatal two-dimensional (2D) ultrasound screening diagnosis of unilateral or bilateral cleft lip at 22-25 weeks of gestation referred to our tertiary care center. Of these, 79 fetuses were included in this prospective study and two were excluded. Axial 3D ultrasound imaging of the fetal palate was performed and the diagnoses were compared with clinical findings at delivery. The frequencies of intact and cleft palate, the degree of association between the prenatal predictions and postnatal findings and the probability of detection of cleft lip and palate were determined.

Results: Of 79 prenatal predictions, 77 (97%) were correct and the association between the prenatal predictions and postnatal findings was strong. The sensitivity for detection of cleft lip and palate within this high-risk population was 100% and the specificity was 90%. In one of the excluded cases, the palate could not be visualized due to a fetal prone position. There were chromosomal anomalies in 4% of cases and associated structural or growth anomalies in 23%, termination of pregnancy was carried out in 4% and intrauterine fetal demise occurred in 3%.

Conclusion: Axial 3D ultrasound of the fetal palate has high accuracy in identifying prenatal cleft palate when cleft lip is diagnosed at mid-trimester 2D ultrasound screening.

MeSH terms

  • Cleft Lip / diagnostic imaging*
  • Cleft Lip / embryology
  • Cleft Palate / diagnostic imaging*
  • Cleft Palate / embryology
  • Female
  • Gestational Age
  • Humans
  • Imaging, Three-Dimensional
  • Infant, Newborn
  • Male
  • Palate, Hard / abnormalities
  • Palate, Hard / diagnostic imaging*
  • Palate, Hard / embryology
  • Pregnancy
  • Prospective Studies
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Ultrasonography, Prenatal* / methods