What Women Want: Lead Considerations for Current and Future Applications of Noninvasive Prenatal Testing in Prenatal Care

Abstract

Background Noninvasive prenatal testing (NIPT) will change the delivery of prenatal care for all women, including those considered low-risk for fetal chromosomal abnormalities. This study investigated pregnant women's attitudes, informational needs, and decision-making preferences regarding current and future applications of NIPT. Methods A survey instrument was used to identify aspects of the decision-making process for NIPT among low-risk and high-risk populations. Results Both low-risk and high-risk women (n=334) expressed interest in incorporating NIPT as a screening test into their prenatal care. Information specific to NIPT's detection rate (86%), indications (77%), and performance in comparison with conventional screens and diagnostic tests (63%) were identified as lead factors when considering its use. The future availability of NIPT as a diagnostic test increased women's willingness to undergo testing for fetal aneuploidy, cancer susceptibility, childhood-onset and adult-onset diseases. Despite its noninvasive aspects, participants expressed the need for a formal informed consent process (71%) to take place prior to testing. Conclusions Our study demonstrates that NIPT will introduce new challenges for pregnant women and their healthcare providers who will be charged with supporting informed decision-making about its use. It is critical that obstetric professionals are prepared to facilitate a patient-centered decision-making process as its clinical application rapidly changes.

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

“…The most commonly quoted clinical benefits of NIPT/D are test safety, as the need for invasive testing is either removed or reduced, having results available earlier in pregnancy, the relative ease with which the sample for testing is taken and, as a result, the potential for improved access to prenatal tests [5,6,10,21,[25][26][27]. For NIPT specifically, improvements over traditional screening tests have been highlighted, including greater accuracy, increased certainty about the results and the potential to identify cases of Down syndrome that might otherwise have been missed [8,11,13,16].…”

“…When discussing ways of supporting informed decision making, stakeholders suggest the provision of both spoken and written information and support the use of formal consent processes to underscore how NIPT/D is different from other blood tests in pregnancy [11,12,29]. Counseling to promote informed decision making should include the benefits and limitations of NIPT/D, with health professionals taking care not to focus solely on discussing the safety of NIPT/D, and alternatives that include the option of not having a test.…”

“…Interest in NIPT/D is high and it is likely that the population opting for prenatal testing will expand as women who would not have previously considered prenatal testing due to the risk of miscarriage would be willing to have NIPT/D [11,12,26]. More couples will take up prenatal testing for 'information only', seeking reassurance or to plan and prepare for the birth of an affected child rather than using the information to make decisions about termination of pregnancy [10,12].…”

“…In addition to T21, T18 and T13 several companies now offer testing for sex chromosome aneuploidies, aneuploidies associated with high risk for early pregnancy loss (T9, T16, and T22) and microdeletion syndromes [4]. Very few studies have examined stakeholder views of these new applications for NIPT [11,14,48,49]. Whilst women are generally interested in having tests for sex chromosome aneuploidies and microdeletion syndromes [11,48,49], some question the usefulness of screening for conditions with variable or unknown outcomes [49].…”

“…Quantitative and qualitative approaches have been used to assess the views of future and current service users, parents of children with disabilities, the general public and health professionals. The majority of studies have focused on NIPT for aneuploidy with researchers gathering views first on the hypothetical use of this test [5][6][7][8][9][10][11][12][13][14][15] and, more recently, on experience drawn from use within clinical practice [16-18,19 & ,20]. Researchers have also looked at stakeholder views on NIPD for fetal sex determination [21][22][23][24], single gene…”