Related Experiment Video
Updated: Jan 23, 2026
Author Spotlight: Assessing the Feasibility of Using Amplitude-Integrated EEG During Neonatal Transport
Published on: June 21, 2024
Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme
Royston Ong1,2, Samantha Edwards1,2, Denise Howting1,2
1Centre for Medical Research, The University of Western Australia, Perth, Western Australia, 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 the study was to identify the most effective way of delivering PCS in Western Australia (WA) through the public health system.
Methods And Analysis:
This is a multicentre cohort pilot study of 250 couples who have used PCS, conducted at three sites: (1) Genetic Services of Western Australia, (2) a private genetic counselling practice in Perth and (3) participating general practice group practices in the Busselton region of WA. The primary outcome of the pilot study was to evaluate the feasibility of implementing the comprehensive PCS programme in the WA healthcare system. Secondary outcome measures included evaluation of the psychosocial impact of couples, such as reproductive autonomy; identification of areas within the health system that had difficulties in implementing the programme and evaluation of tools developed during the study.
Ethics And Dissemination:
Approval was provided by the Women and Newborn Health Service Human Research Ethics Committee (HREC) at King Edward Memorial Hospital for Women (RGS0000000946) and the University of Western Australia (UWA) HREC (RA/4/20/4258). Participants may choose to withdraw at any time. Withdrawal will in no way affect participating couples' medical care. Study couples will be redirected to another participating health professional for consultation or counselling in the event of a health professional withdrawing. All evaluation data will be deidentified and stored in a password-protected database in UWA. In addition, all hard copy data collected will be kept in a locked cabinet within a secure building. All electronic data will be stored in a password-protected, backed-up location in the UWA Institutional Research Data Store. All evaluative results will be published as separate manuscripts, and selected results will be presented at conferences.
Related Concept Videos
01:24Electron Carriers
Over the many stages of cellular respiration, glucose breaks down into carbon dioxide and water. Electron carriers pick up electrons lost by glucose in these reactions, temporarily storing and releasing them into the electron...
01:22Case Studies
01:21Pilot and Numeric Relaying
01:15Western Blotting
The technique begins with separating proteins from the sample using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), followed by protein transfer, immunoblotting, and finally, protein detection.
01:21Carrier Transport
Drift Current:
The drift of charge carriers is started by an external electric field (E). Charged particles, such as electrons and holes, experience an acceleration between collisions with lattice atoms. For electrons, this results in a drift velocity (vd) given by:
01:15Nursing Implementation
The five steps to implementing effective nursing care include reassessing the patient, reviewing and revising the existing nursing care plan, organizing the resources and care delivery, anticipating and preventing complications, and implementing nursing interventions.