Tags: Patient Perspectives, 2023, Netherlands, RAAs, CNVs

• A pre-and post-test questionnaire was completed by 473 women choosing between targeted NIPT and GW-NIPT through the Dutch TRIDENT-2 study.
• “Most respondents (90.4%) were glad to have been offered the choice between GW-NIPT and targeted NIPT; 76.5% chose GW-NIPT. Main reasons to choose GW-NIPT were ‘wanting as much information as possible regarding the child’s health’ (38.6%) and ‘to be prepared for everything’ (23.8%). Main reasons to choose targeted NIPT were ‘avoiding uncertain results/outcomes’ (33.7%) and ‘not wanting to unnecessarily worry’ (32.6%). Nearly all respondents received a low-risk NIPT result (98.7%). No differences were found in anxiety between women choosing GW-NIPT and targeted NIPT. Most respondents were favorable toward future prenatal screening for a range of conditions, including life-threatening disorders, mental disabilities, disorders treatable in pregnancy and severe physical disabilities, regardless of their choice for GW-NIPT or targeted NIPT. In conclusion, women who chose first-tier NIPT were satisfied with the choice between GW-NIPT and targeted NIPT, and most women were favorable toward a broader future screening offer.”

The post Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program. appeared first on Global NIPT Consortium.

Tags: Patient Perspectives, 2023, Australia, RAAs, CNVs

• 219 women in Western Australia were surveyed regarding the use of NIPT to detect multiple different single gene and chromosome conditions.
• Most women (96%) supported expanded NIPT for single gene and chromosome conditions as long as the test does not pose any risk to the pregnancy and can provide relevant medical information about the fetus. Most women (80%) indicated that expanded NIPT should be available at any stage during pregnancy and 68% indicated that the cost of the test would influence their participation in testing.

The post Western Australian women’s expectations for expanded NIPT-An online survey regarding NIPT for single gene, recessive and chromosomal conditions appeared first on Global NIPT Consortium.

Tags: Patient Perspectives, 2023, Canada, RAAs, CNVs

• 200 general-risk patients in Quebec were surveyed regarding their expectations for expanded NIPT.
• 88% wanted all information that could have an immediate impact on fetal health, 82% wanted all information that could have an immediate impact on infant health from birth, and almost half wanted information about RAAs and/or all genetic information that may affect the baby.

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Tags: Patient Perspectives, Health Care Provider Perspectives, 2023, Canada, RAAs, CNVs

• 272 pregnant women and 24 policymakers completed the questionnaire.
• In the pregnant women group, all seven attributes were statistically significant, denoting their importance, with pregnant women placing the greatest importance on cost related to the test, followed by test performance, and degree of test result certainty.
• In the policymakers group, three attributes were statistically significant: test performance, degree of test result certainty regarding the severity of the disability, and cost related to the test.

The post Pregnant women’s and policymakers’ preferences for the expansion of noninvasive prenatal screening: A discrete choice experiment approach study. appeared first on Global NIPT Consortium.

Tags: Patient Perspectives, 2022, Netherlands, RAAs, CNVs

• Study used online questionnaires and semi-structured interviews. 4539 questionnaire responses were analyzed; 60% of respondents had experienced NIPT.
• “Conclusions: The patient experience with first-tier NIPT in the Netherlands was largely positive. Areas for improvement included counseling on the implications of screening and the different possible outcomes of NIPT, including additional findings that may be uncovered by expanding NIPT beyond the common trisomies.”

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