Abstract

CAL, Margarida et al. In utero diagnosis of Autosomal Dominant Polycystic Kidney Disease. Acta Obstet Ginecol Port [online]. 2020, vol.14, n.3, pp.179-183. ISSN 1646-5830.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited renal disease; its diagnosis, which used to be made during adulthood, has shifted towards earlier ages due to the development and widespread use of ultrasonography. Very-early onset (VEO) cases represent a high-risk group of patients. We describe a case of prenatal diagnosis in a pregnant woman with ADPKD. This case shows how diagnosis of ADPKD through ultrasound may signal high-risk patients that may benefit from early and timely treatment.

Keywords : ADPKD; In utero diagnosis; VEO; Ultrasound; Preimplantation genetic diagnosis.

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