Implementation of a national rapid prenatal exome sequencing service in England: evaluation of service outcomes and factors associated with regional variation

IntroductionPrenatal exome sequencing (pES) can enhance genetic diagnosis of fetuses with structural anomalies and has recently been introduced as a national service in England. We aimed to examine service outcomes such as diagnostic yield (definite final diagnosis), referral rate, and sources of re...

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Autors principals:	Rema Ramakrishnan, Corinne Mallinson, Steven Hardy, Jennifer Broughan, Maisie Blyth, Gabriella Melis, Catherine Franklin, Melissa Hill, Rhiannon Mellis, Wing Han Wu, Stephanie Allen, Lyn S. Chitty, Marian Knight, EXPRESS Clinical Outcomes Group, Ruth Armstrong, Tazeen Ashraf, Ana Beleza-Meireles, Marta Bertoli, Lucy Bownass, Jennifer Campbell, Natalie Canham, Ruth Cleaver, Jan Cobben, Jacqueline Eason, Nour Elkhateeb, Alice Gardham, Alice Garrett, Sara Hillman, Emma Hobson, Simon Holden, Muriel Holder-Espinasse, Tessa Homfray, Monika Kosicka-Slawinska, Alison Male, Sahar Mansour, Sarju G. Mehta, Cathryn Moss, Jessica Myring, Pranav Pandya, Katrina Prescott, Lorna Randall, Sarah Richardson, Alexander Ross, Alison Stewart, Dagmar Tapon, Hannah Titheradge, Pradeep Vasudevan, Astrid Weber, Louise Wilson
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-11-01
Col·lecció:	Frontiers in Genetics
Matèries:	prenatal exome sequencing structural defects genetic diagnosis implementation
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fgene.2024.1485306/full
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