The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies

Prenat Diagn. 2004 Jul;24(7):508-12. doi: 10.1002/pd.925.


Objectives: Fetal face malformations represent one of the most challenging prenatal diagnoses mainly because of the wide range of morphological features involved. We tested an approach based on a combination of conventional two-dimensional ultrasound with the more recent three-dimensional technique plus magnetic resonance imaging, in order to improve parents' understanding of fetal face anomalies, thereby facilitating parent counselling.

Methods: Two cases of fetal facial anomaly were studied using these combined techniques; one had severe micrognathia and malformation of the ears with preauricular tags, while the other had bilateral dacryocystocele and severe hypertelorism.

Results: The images generated by three-dimensional ultrasound enabled the parents to visualize their child immediately and helped them to adjust to the diagnosis of facial defects and its clinical consequences.

Conclusions: An approach based on combined use of different imaging techniques was found useful in both cases.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Congenital Abnormalities / diagnosis*
  • Congenital Abnormalities / diagnostic imaging
  • Congenital Abnormalities / embryology
  • Ear, External / abnormalities
  • Ear, External / diagnostic imaging
  • Ear, External / embryology
  • Face / abnormalities*
  • Face / diagnostic imaging
  • Face / embryology
  • Female
  • Humans
  • Hypertelorism / diagnosis
  • Hypertelorism / diagnostic imaging
  • Hypertelorism / embryology
  • Imaging, Three-Dimensional
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Lacrimal Apparatus / abnormalities
  • Lacrimal Apparatus / diagnostic imaging
  • Lacrimal Apparatus / embryology
  • Magnetic Resonance Imaging* / methods
  • Male
  • Micrognathism / diagnosis
  • Micrognathism / diagnostic imaging
  • Micrognathism / embryology
  • Nose / abnormalities
  • Pregnancy
  • Pregnancy Outcome
  • Prenatal Diagnosis
  • Ultrasonography, Prenatal*