Western Australian women's expectations for expanded NIPT-An online survey regarding NIPT for single gene, recessive and chromosomal conditions

Prenatal screening has evolved rapidly following the introduction of non-invasive prenatal testing (NIPT), with screening now available for an increasing number of conditions. We explored the attitudes and expectations of women within the context of using NIPT to detect multiple different single gene and chromosome conditions during pregnancy. An online survey was used to assess these issues with a sample of 219 women from Western Australia. In our study, the majority of women (96%) support of the concept of expanded NIPT for single gene and chromosome conditions provided the test involves no risk to the pregnancy and can provide the parents with relevant medical information about the fetus at any stage of pregnancy. 80% believed that expanded NIPT for single gene and chromosome conditions should be available at any stage during pregnancy and 68% of women indicated that test cost would be a factor in determining their participation in testing. Under half (43%) of the women favored an option to terminate a pregnancy at any stage if the fetus had a medical condition that would interfere with day to day functioning. The majority (78%) of women believed that testing for multiple genetic conditions would provide reassurance and lead to the delivery of a healthy child.

Automated summary

Prenatal screening, including non-invasive prenatal testing (NIPT), has advanced quickly and is now available for detecting multiple single gene and chromosome conditions during pregnancy. A survey of 219 women in Western Australia revealed that the majority (96%) supported expanded NIPT for these conditions, as long as the test had no risk to the pregnancy and could provide relevant medical information at any stage of pregnancy. Additionally, cost and the option to terminate a pregnancy were factors for women in deciding whether to participate in testing, with 68% considering cost and 43% supporting the option to terminate if the fetus had a condition affecting daily functioning. Reassurance and delivering a healthy child were seen as potential benefits of testing by 78% of women.