How Uncertain Are Patients in Regards to Invasive Prenatal Genetic Diagnostic Testing? [25K

Abstract

INTRODUCTION: The purpose of this project is to determine patients' decisional certainty regarding the use of invasive prenatal genetic diagnostic testing (PGDT). METHODS: Cross-sectional design, IRB-approved study. Voluntary, anonymous questionnaire (Q) assessing patient decision making process in regards to invasive (CVS and/or amniocentesis) PGDT. Q (paper and online options) were distributed from 2017-2018 to those undergoing genetic testing in a university academic practice. Questions (7 items on certainty, 5-point Likert scale) were structured to evaluate patient decisional certainty, and were partly adapted from published validated Q's. Exclusion criteria: English or Spanish illiterate. Means, variances (SD), and ranges were tabulated. RESULTS: 50 female patients returned the study; 38 (76%) completed it entirely. Patients mean age was 31.76±6.07 years and 79% were Caucasian. 75% had equal PGDT decision making with their partner. Most were referred due to a positive carrier screen, or a positive cell free DNA result. 71% of patients had already made a decision at the time of the Q. Participants expressed high certainty of their decision to do PGDT (mean 3.18 on a 1=uncertain to 5=certain scale, SD 0.79). Non-white women appeared to have greater decisional certainty than white patients (3.54 (SD 0.6) v 3.08 (SD 0.8), respectively). CONCLUSION: Patients are very certain in their decision-making regarding PGNT; however this may be a reflection of when they completed the survey as most did so after deciding on PGDT.