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

IntroductionPreconception 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 t...

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Bibliographic Details
Main Authors: Royston Ong, Samantha Edwards, Denise Howting, Benjamin Kamien, Karen Harrop, Gianina Ravenscroft, Mark Davis, Michael Fietz, John Beilby, Nigel Laing
Format: Article
Language:English
Published: BMJ Publishing Group 2019-06-01
Series:BMJ Open
Online Access:https://bmjopen.bmj.com/content/9/6/e028209.full