Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia

INTRODUCTION: Preconception carrier screening (PCS) identifies couples at risk of having children with recessive genetic conditions. New technologies have enabled affordable sequencing for multiple disorders simultaneously, including identifying carrier status for many recessive diseases. The aim of...

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Detalles Bibliográficos
Autores principales: Ong, Royston, Edwards, Samantha, Howting, Denise, Kamien, Benjamin, Harrop, Karen, Ravenscroft, Gianina, Davis, Mark, Fietz, Michael, Pachter, Nicholas, Beilby, John, Laing, Nigel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Public Health
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589024/
https://www.ncbi.nlm.nih.gov/pubmed/31209093
http://dx.doi.org/10.1136/bmjopen-2018-028209

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6589024/
https://www.ncbi.nlm.nih.gov/pubmed/31209093
http://dx.doi.org/10.1136/bmjopen-2018-028209

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