Abstract
Congenital dyserythropoietic anaemia type I (CDA1) is an autosomal recessive disorder characterised by macrocytic anaemia and ineffective erythropoiesis. A family with a prenatal presentation of severe hydrops fetalis at 20 weeks gestation were referred for trio whole exome sequencing, which identified a homozygous variant in the CDAN1 gene (NM_138477.2:c.3107C>T, p.(Ser1036Phe)), which was classified as a variant of uncertain significance based on the following ACMG criteria: PS4_supporting, PM2_supporting and PP3.
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