Experiences of pregnant women with genome-wide non-invasive prenatal testing in a national screening program.

van der Meij KRM, van de Pol QYF, Bekker MN, et al. Eur J Hum Genet. 2023;31(5):555-561. doi:10.1038/s41431-022-01248-x. Open Access: Learn more

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.”