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

M. A. Rustico, F. Lalatta, A. Righini, L. Spaccini, I. Fabietti, U. Nicolini

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)508-512
Number of pages5
JournalPrenatal Diagnosis
Volume24
Issue number7
DOIs
Publication statusPublished - Jul 2004

Keywords

  • Counselling
  • Facial malformations
  • Magnetic resonance imaging
  • Prenatal diagnosis
  • Three-dimensional ultrasound

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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