Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition

Abstract

Harlequin ichthyosis (HI) is an extremely rare disease with a prevalence of less than 1/300 000 live newborns and no more than 100 cases reported worldwide. It corresponds to a genodermatoses autosomal recessive inheritance, typically, with postnatal recognition due to the complexity of prenatal diagnosis. Advances in prenatal genetic testing allow sequencing of the affected gene and confirmation of the diagnosis after recognition of ultrasound markers. The prenatal acknowledgement of the disease significantly marks the course of the pregnancy; considering the perinatal high risk and neonatal mortality, this entity can be classified as lethal. Taking into account the legislation of each country, the possibility of pregnancy termination should be considered as an acceptable option. We present a case of prenatally diagnosed HI in the first ultrasound evaluation by the Maternal Fetal Medicine unit at 29 weeks of gestation, in which after counselling to the parents, the interruption of the gestation was decided.

Keywords: Genetic screening / counselling; Pregnancy; Radiology (diagnostics).