Abstract
Autosomal recessive and X-linked diseases cause significant paediatric morbidity and mortality. Carrier-screening can inform couples of their risk of having an affected child. However, carrier-screening was traditionally offered only to specific populations. To investigate whether carrier-screening could be implemented using existing components of the West Australian (WA) public health system, I surveyed the community and health professionals; designed a protocol and ran the pilot study recruiting and testing 225 WA couples. My study showed that carrier-screening can be provided through existing components of the WA public health system and suggests high-risk carrier couples might be more common than previously appreciated.
Original language | English |
---|---|
Qualification | Doctor of Philosophy |
Awarding Institution |
|
Supervisors/Advisors |
|
Thesis sponsors | |
Award date | 8 Sep 2021 |
DOIs | |
Publication status | Unpublished - 2021 |