Reproductive Decision-Making in the Context of Xp22.31 Copy Number Variants: A Prenatal Genetic Counseling Approach

Xp22.31 deletions, which encompass the steroid sulfatase gene, are well‐characterized and primarily associated with X‐linked ichthyosis. These deletions have also been linked to a range of additional phenotypic features, including neurodevelopmental disorders and cryptorchidism. We report three prenatal cases in which Xp22.31 deletions were identified by chromosomal microarray analysis following invasive prenatal testing performed for diverse clinical indications. In each instance, the deletion was detected incidentally during evaluation for unrelated fetal concerns. These cases underscore the varied prenatal contexts in which Xp22.31 deletions may be identified and highlight the associated challenges in genetic counseling, clinical decision‐making, and prognostic interpretation.