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.

Management of harlequin ichthyosis in low-income countries

“…Prenatal diagnosis by ultrasound 2D and 3D imaging can detect features suggestive of a harlequin fetus in the 1st to 2nd trimester of pregnancy. 5 There is no standard, accepted therapy for this disease. HI is usually associated with stillbirth and early neonatal death owing to respiratory compromise, infection, dehydration and hyponatraemia.…”

'Collodion baby': Presentation of a rare form of familial lamellar ichthyosis

“…Пренаталном дијагностиком могуће је утврдити да ли је плод носилац одређене мутације (амниоцентезом или биопсијом хорионских ресица, такође и анализом феталне ДНК из материнске циркулације, као и коришћењем 3D ултразвука) (17,19,20). Уколико је то случај, спроводи се психолошка припрема породице и предсказују се евентуални проблеми за време трудноће или током порођаја.…”

Ichthyosis in the newborn

“…HI may be detected based on ultrasonographic findings. 18–20 Other methods of prenatal diagnosis of ichthyosis include chorionic villus sampling, fetal skin biopsy, and preimplantation testing 21 .…”