Decision-making process about prenatal genetic screening: how deeply do moms-to-be want to know from Non-Invasive Prenatal Testing?

Abstract

Background Prenatal information may be obtained through invasive diagnostic procedures and non-invasive screening procedures. Several psychological factors are involved in the decision to undergo a non-invasive prenatal testing (NIPT) but little is known about the decision-making strategies involved in choosing a specific level of in-depth NIPT, considering the increased availability and complexity of NIPT options. The main aim of this work is to assess the impact of psychological factors (anxiety about pregnancy, perception of risk in pregnancy, intolerance to uncertainty), and COVID-19 pandemic on the type of NIPT chosen, in terms of the number of conditions that are tested. Methods A self-administered survey evaluated the decision-making process about NIPT. The final sample comprised 191 women (Mage = 35.53; SD = 4.79) who underwent a NIPT from one private Italian genetic company. Based on the test date, the sample of women was divided between “NIPT before COVID-19” and “NIPT during COVID-19”. Results Almost all of the participants reported being aware of the existence of different types of NIPT and more than half reported having been informed by their gynecologist. Results showed no significant association between the period in which women underwent NIPT (before COVID-19 or during COVID-19) and the preferences for more expanded screening panel. Furthermore, regarding psychological variables, results showed a significant difference between perceived risk for the fetus based on the NIPT type groups, revealing that pregnant women who underwent the more expanded panel had a significantly higher level of perceived risk for the fetus than that reported by pregnant women who underwent the basic one. There was no statistically significant difference between the other psychological variables and NIPT type. Conclusions Our findings indicate the paramount role of gynecologist and other health care providers, such as geneticists and psychologists, is to support decision-making process in NIPT, in order to overcome people’s deficits in genetic knowledge, promote awareness about their preferences, and control anxiety related to the unborn child. Decision-support strategies are critical during the onset of prenatal care, according to the advances in prenatal genomics and to parent’s needs.

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21

“…While the uptake of NIPT did increase slightly after its introduction, most women still declined prenatal testing 27 . The data gathered from this study as well as from studies in other countries clearly indicate that appropriate counseling is the key to achieving high levels of informed test‐choice decisions rather than the test itself 27–33 …”

“…27 The data gathered from this study as well as from studies in other countries clearly indicate that appropriate counseling is the key to achieving high levels of informed test-choice decisions rather than the test itself. [27][28][29][30][31][32][33] Another initial fear was that the introduction of NIPT would result in a drastic decrease in the livebirth prevalence of Down syndrome. A register study of the period 2014-2018, which included the start of NIPT as a first-tier test in 2017, concluded this was not the case.…”

Implementation of an Enhanced Prenatal Checklist to Increase Rates of Counseling of Prenatal Fetal Aneuploidy Testing

“…Patients cannot be properly counseled on screening tests such as NIPT without discussing diagnostic tests such as CVS or amniocentesis. Furthermore, the nuances of prenatal genetic test results should be explained to patients prior to performing the test, as some patients may be familiar with the results from NIPT (including the risk of trisomy 21, 18, or 13), but they may be less familiar with the diagnostic testing capabilities available to them, such as comprehensive chromosomal aneuploidy assessment [ 25 ]. Patients should also comprehend the potential for uncertain results or incidental findings prior to the testing rather than afterward [ 26 ].…”

Psychological and cognitive factors involved in decision‐making process of haemophilia carriers in reproductive choices

“…Furthermore, these women are also characterized by active search for information in order to examine all the possible future impacts of their choice. Furthermore, a study on the psychological variables that affect the decision to perform a specific type of NIPT 36 found that women with higher levels of concern and anxiety for the fetus showed preferences for more expanded screening panel in terms of the number of conditions that are tested. These results are consistent with the finding in our HCs cohort: a search for precise, not‐probabilistic information is a way to manage uncertainty, and is characteristic of people with high intolerance to uncertainty and a high cognitive need to find a solution to ambiguous situations.…”