The role of patient-reported experiences in disclosing genetic prenatal testing: Findings from a large-scale survey on pregnant women

Amerigo Ferrari; Federico Pennestrì; Manila Bonciani; Giuseppe Banfi; Milena Vainieri; Rossella Tomaiuolo

doi:10.1016/j.eurox.2024.100327

The role of patient-reported experiences in disclosing genetic prenatal testing: Findings from a large-scale survey on pregnant women

Eur J Obstet Gynecol Reprod Biol X. 2024 Jul 14:23:100327. doi: 10.1016/j.eurox.2024.100327. eCollection 2024 Sep.

Authors

Amerigo Ferrari^{1

2}, Federico Pennestrì³, Manila Bonciani^{1

4}, Giuseppe Banfi^{3

5}, Milena Vainieri¹, Rossella Tomaiuolo^{3

5}

Affiliations

¹ Institute of Management, MeS (Management and Health) Laboratory, Scuola Superiore Sant'Anna, Pisa, Italy.
² Department of Clinical and Experimental Medicine, Division of Obstetrics and Gynecology, University of Pisa, Pisa, Italy.
³ IRCCS Ospedale Galeazzi Sant'Ambrogio, Milan, Italy.
⁴ Meyer Center for Health and Happiness, A. Meyer Children's Hospital, Florence, Italy.
⁵ Vita-Salute San Raffaele University, Milan, Italy.

Abstract

Introduction: Pregnant women can choose from different prenatal genetic tests throughout their maternity journey. We aim to investigate the clinical, societal, and economic determinants influencing the selection of different options (non-invasive, invasive, or both).

Methods: A systematic survey focusing on maternity pathways was launched by the Region of Tuscany, Italy, to collect data on pregnant women's experience, outcomes and satisfaction levels. Drawing from this survey, we retrospectively analyzed data on women who filled out the second-trimester questionnaire between March 2019 and February 2023 (n = 27,337), providing complete data on relevant variables. Logistic regression models were applied to identify the factors contributing to a higher likelihood of opting for non-invasive prenatal testing (NIPT) and invasive testing.

Results: Among the participants, 42.7 % chose only NIPT, 3.8 % opted for invasive tests exclusively, 1.3 % underwent both tests, and 52.2 % did not pursue any genetic testing. NIPT was more often chosen by older, Italian, highly educated, nulliparous women, who perceived better health, were employed (versus unemployed), had higher economic status, planned pregnancy, received hospital-based care (versus counseling center), under gynecologist supervision (versus midwife), not opted for combined testing and received pregnancy vaccinations. Conversely, invasive testing was more prevalent among older women but less common among those who were nulliparous, had Italian nationality, and had a perceived better health status. This group also tended to experience unplanned and high-risk pregnancy, did not take folate during pregnancy, received public hospital-based assistance, less frequently chose combined tests or NIPT, and had frequent delays in examinations.

Conclusions: Various factors beyond clinical considerations influence the selection of a prenatal test. Therefore, NIPT pathways should include balanced, high-quality information about benefits and limitations, ensuring laboratory specialists' active and integrated involvement in decision-making.

Keywords: Non-invasive prenatal testing (NIPT); Patient-reported experience measures (PREMS); Prenatal testing; Survey; Value-based health care (VBHC).