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

Pregnant women’s perspectives should be included in the dialogue surrounding the expanding offers of non-invasive prenatal testing (NIPT), especially now that technological possibilities are rapidly increasing. This study evaluated women’s experiences with the offer of genome-wide (GW) first-tier NIPT in a national screening program. A nationwide pre- and post-test questionnaire was completed by 423 pregnant women choosing between targeted NIPT (trisomies 21, 18 and 13 only) and GW-NIPT (also other findings) within the Dutch TRIDENT-2 study. Measures included satisfaction, reasons for or against choosing GW-NIPT, anxiety, and opinion on the future scope of NIPT. 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’ (36.8%) and ‘to be prepared for everything’ (23.8%). Main reasons to choose targeted NIPT were ‘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 detectable 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 more inclined to choose between GW-NIPT and targeted NIPT, and most women supported a broader future screening offer. Our results contribute to the debate concerning the expansion of NIPT.

Karuna R. M. van der Meij, Qiu Ying. F. van de pol, Mireille N. Bekker, Linda Martin, Janneke Gitsels-van der Wal, Elsbeth H. van Vliet-Lachotzki, Janneke M. Weiss, Robert-Jan H. Galjaard, Erik A. Sistermans, Merryn V. E. Macville, Lidewij Henneman, the Dutch NIPT Consortium