title: Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach.
abstract: 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.
authors.affiliation: Department of Gynecology-Obstetrics-Infertility and Fetal Medicine, Archet Hospital II, Nice University Hospital, Nice, France. abongain@hotmail.com
authors.forename: A
authors.initials: A
authors.lastname: Bongain
authors.forename: B
authors.initials: B
authors.lastname: Benoit
authors.forename: L
authors.initials: L
authors.lastname: Ejnes
authors.forename: J C
authors.initials: JC
authors.lastname: Lambert
authors.forename: J Y
authors.initials: JY
authors.lastname: Gillet
mesh_terms: D000328:Adult; D001706:Biopsy; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005332:Fetoscopy; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000000981:diagnostic imaging*; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D012867:Skin / Q000473:pathology; D016216:Ultrasonography, Prenatal / Q000379:methods*