When a sex chromosome aneuploidy is diagnosed-views from a parent support organisation.

Abstract

Prenatal diagnosis of sex chromosome aneuploidies (SCAs) has been increasing recent years, in connection with increased availability of cell-free DNA screening (NIPT). We discuss what parents are likely to find helpful when a SCA is suspected or confirmed in pregnancy, based on the literature on parents' views and experiences of prenatal screening and diagnosis of SCAs, and the authors' experience of working a charity that supports parents through screening and diagnosis. Many parents who have NIPT will be unfamiliar with SCAs; therefore, receiving a high chance result from NIPT is likely to be unexpected and shocking. It is important that healthcare professionals involved in counselling parents, including private sector providers of NIPT, have up-to-date education on SCAs and training on communicating results to help them deliver high-quality care. When a SCA is suspected or diagnosed, parents value up-to-date information about the condition and support to make the best decisions for their individual circumstances. This article is protected by copyright. All rights reserved.