Abstract

Increasingly, high-risk pregnant women opt for non-invasive prenatal testing (NIPT) instead of invasive diagnostic testing. Since NIPT is less accurate than invasive testing, a normal NIPT result might leave women less reassured. A questionnaire study was performed among pregnant women with elevated risk for fetal aneuploidy based on first-trimester combined test (risk ≥1:200) or medical history, who were offered NIPT in the nationwide Dutch TRIDENT study. Pre- and post-test questionnaires (n = 682) included measures on: experiences with NIPT procedure, feelings of reassurance, anxiety (State-Trait Anxiety Inventory, STAI), child-related anxiety (PRAQ-R), and satisfaction. The majority (96.1%) were glad to have been offered NIPT. Most (68.5%) perceived the waiting time for NIPT results (mean: 15 days, range 5–32) as (much) too long. Most women with a normal NIPT result felt reassured (80.9%) or somewhat reassured (15.7%). Levels of anxiety and child-related anxiety were significantly lower after receiving a normal NIPT result as compared to the moment of intake (p < 0.001). Women with inadequate health literacy or a medical history (e.g. previous child with trisomy) experienced significantly higher post-test-result anxiety (Mean (M) STAI = 31.6 and 30.0, respectively) compared to those with adequate health literacy (M = 28.6) and no medical history (M = 28.6), indicating these women might benefit from extra information and/or guidance when communicating NIPT test-results. Introducing NIPT as an alternative to invasive testing, led to an offer that satisfied and largely reassured high-risk pregnant women.

Highlights

  • Since 2011, cell-free DNA testing for the detection of fetal aneuploidy, called non-invasive prenatal testing (NIPT), has become widely available for pregnant women, including those at elevated risk for aneuploidy based on the first-trimester combined test (FCT)

  • Thirteen women who had not filled out the first questionnaire (Q1) were excluded because baseline data for State-Trait Anxiety Inventory (STAI) and PRAQ-R scores were not available, as were thirteen women who chose to have immediate invasive testing

  • Our study shows that a normal NIPT result is able to give most women this reassurance, and that the levels of increased anxiety generated by the high-risk FCT result are not sustained

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Summary

Introduction

Since 2011, cell-free DNA (cfDNA) testing for the detection of fetal aneuploidy, called non-invasive prenatal testing (NIPT), has become widely available for pregnant women, including those at elevated risk for aneuploidy based on the first-trimester combined test (FCT). Because invasive tests have a small procedurerelated miscarriage risk (Tabor et al 2010), many women declined these tests (Nakata et al 2010), whilst those accepting testing experienced considerable anxiety (Nakic Rados et al 2013; Sarkar et al 2006). Due to the small possibility of false positives, abnormal NIPT results still need to be confirmed with invasive testing (Dondorp et al 2015; ACMG 2013). The mere fact of having a prenatal test for fetal abnormalities may affect maternal anxiety (Nakic Rados et al 2013). Experienced levels of anxiety further increase upon receiving a high-risk result (Lou et al 2015). Anxiety is inversely correlated with, amongst others, socio-economic status (Faisal-Cury et al 2007), but might be contained by promoting informed choice for testing (Michie et al 2002)

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