История болезни гинекологии и акушерства Открытый доступ

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Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Genetic Dermatosis

Ramanidevi Thirunavukkarasu

Harlequin foetus otherwise called as ichthyosis is a rare disorder which affects the foetus and transmitted through autosomal recessive inheritance. Incidence of the disease is nearly 1 in 2,00,000 to 3,00,000 live births. The affected foetus usually dies at birth and most often they are born pre-term. Harlequin Ichthyosis (HI) is characterized by severe keratinisation and alligator-like horned skin disorder. HI is associated with mutation in the ABCA12 gene. It recurs and family history and plays a major role. Therefore, genetic counselling and screening for mutation of this gene should be considered. Prenatal testing with amniocentesis and USG in late second trimester will help to diagnose the condition. ART and PGT will help to diagnose this genetic disorder.