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Harlequin fetus: three‐dimensional sonographic findings and new diagnostic approach
Author(s) -
Bongain A.,
Benoit B.,
Ejnes L.,
Lambert J. C.,
Gillet J. Y.
Publication year - 2002
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2002.00708.x
Subject(s) - medicine , fetoscopy , prenatal diagnosis , fetus , referral , ultrasound , prenatal ultrasound , obstetrics , radiology , ultrasonography , pregnancy , genetics , family medicine , biology
Congenital ichthyosis, otherwise known as harlequin fetus, is a severe, generally lethal, anomaly. Prenatal diagnosis is usually possible in families at risk but requires invasive fetoscopy for skin biopsy. The application of three‐dimensional ultrasound enables a greatly improved analysis of the facial morphology and thus provides an important contribution to prenatal diagnosis. Although such three‐dimensional diagnostic procedures are performed in specialized centers, sonographers should be aware of the signs observed at routine two‐dimensional ultrasound examination in order to ensure appropriate referral for diagnosis. We describe two consecutive pregnancies of the same parents in which two‐ and three‐dimensional ultrasound were used in the prenatal diagnosis of harlequin fetus. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology