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

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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… Click to show full 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.

Keywords: sex chromosome; diagnosis; support; chromosome aneuploidy

Journal Title: Prenatal Diagnosis
Year Published: 2022

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