Abstract

BackgroundCell-free DNA (cfDNA) screening has recently acquired tremendous attention, promising patients and healthcare providers a more accurate prenatal screen for aneuploidy than other current screening modalities. It is unclear how much knowledge regarding cfDNA screening obstetrical providers possess which has important implications for the quality and content of the informed consent patients receive.MethodsA survey was designed to assess obstetrical provider knowledge and attitudes towards cfDNA screening and distributed online through the Society of Obstetricians & Gynecologists of Canada (SOGC). Chi-squared tests were used to detect differences in knowledge and attitudes between groups.Results207 respondents completed the survey, composed of 60.6% Obstetricians/Gynecologists (OB/GYN), 15.4% Maternal Fetal Medicine (MFM) specialists, 16.5% General Practitioners (GP), and 7.5% Midwives (MW). MFM demonstrated a significant trend of being most knowledgeable about cfDNA screening followed by OB/GYN, GP, and lastly MW in almost all aspects of cfDNA screening. All groups demonstrated an overall positive attitude towards cfDNA screening; however, OB/GYN and MFM demonstrated a significantly more positive attitude than GP and MW. Despite not yet being a diagnostic test, 19.4% of GP would offer termination of pregnancy immediately following a positive cfDNA screen result compared to none of the MFM and only few OB/GYN or MW.ConclusionsWe have demonstrated that different types of obstetrical providers possess varying amounts of knowledge regarding cfDNA screening with MFM currently having greater knowledge to all other groups. All obstetrical providers must have adequate prenatal screening understanding so that we can embrace the benefits of this novel and promising technology while protecting the integrity of the informed consent process.

Highlights

  • Cell-free DNA screening has recently acquired tremendous attention, promising patients and healthcare providers a more accurate prenatal screen for aneuploidy than other current screening modalities

  • The knowledge portion was created by our research team who possess extensive knowledge on Cell-free DNA (cfDNA) screening and tackled aspects around cfDNA screening including knowledge about the conditions it is commercially available to detect, detection rates, accessibility, and other general aspects which we collectively deemed important for obstetrical providers to know when offering such screening tests

  • Similar studies assessing Obstetricians/Gynecologists completed 1 year after commercial availability in the U.S found that 32% of respondents had already incorporated cfDNA screening into their practice, and an additional 22% were familiar with published clinical data, while 8% had never heard of this type of technology [19]

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Summary

Introduction

Cell-free DNA (cfDNA) screening has recently acquired tremendous attention, promising patients and healthcare providers a more accurate prenatal screen for aneuploidy than other current screening modalities. Prenatal genetic screening methods have used non-invasive maternal serum screening testing protocols such as the first trimester combined cfDNA screening is an important clinical advancement over alternative screening modalities as it has an overall detection rate (DR) of 99.7% and false-positive rate (FPR) of 0.04% for trisomy 21 [5]. Different professional societies, such as the Society of Obstetricians and Gynecologists of Canada (SOGC) and the American College of Obstetricians and Gynecologists (ACOG), agree that. A study looking at the opinions of healthcare professionals about cfDNA screening implementation in the UK has identified that explaining the limitations of this test and making it clear to women that positive results need to be confirmed by invasive testing, is essential to ensure informed consent [11]

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