Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation

Hereditary diseases are disorders that mainly result from mutations or changes in Deoxyribonulciec Acid (DNA), Ribonucleic Acid (RNA), or chromosomes, which impact the overall and physical welfare of an individual. One such severe inherited skin disease is Harlequin Ichthyosis (HI), which is characterised by the rigid and thick formation of diamond-shaped scales on the skin. It occurs due to a mutation in the ABCA12 gene, which plays a central role in the formation of the outermost layer of the skin. Hereby, the authors present a case of a 29-year-old female presented herself at Acharya Vinoba Bhave Rural Hospital (AVBRH) for hereditary counselling. She was 38 weeks pregnant and had no other chief complaints; however, she wanted proper counselling for the pregnancy due to the death of her previous children. In her prior pregnancy, the neonate was diagnosed with HI and exhibited all the manifestations of grossly thick, inelastic skin, which posed a high risk for life-threatening complications, including infections, fluid loss, and episodes of acute respiratory intolerance. The neonate was born at 40 weeks of gestation. Other initial diagnostic methods, such as amniocentesis, Chorionic Villus Sampling (CVS), and pre-implantation genetic diagnosis during Invitro Fertilisation (IVF) for genetic disorders, were utilised. These prenatal testing techniques facilitate genetic screening methods in managing hereditary ailments such as HI in present case. Genetic testing revealed that both parents carried a heterozygous deletion in the ABCA12 gene, indicating a 25% chance of having another affected child. Early identification of the disease and its treatment will enable neonates to have the best quality of life possible.