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The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies
Author(s) -
Rustico M. A.,
Lalatta F.,
Righini A.,
Spaccini L.,
Fabietti I.,
Nicolini U.
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.925
Subject(s) - phenotype , prenatal diagnosis , medicine , fetus , pathology , pregnancy , biology , genetics , gene
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. Copyright © 2004 John Wiley & Sons, Ltd.