Harlequin fetus: three‐dimensional sonographic findings and new diagnostic approach

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