Electronic Thesis and Dissertation Repository

Thesis Format

Monograph

Degree

Doctor of Philosophy

Program

Health and Rehabilitation Sciences

Supervisor

Evans, Marilyn

2nd Supervisor

de Vrijer, Barbra

Joint Supervisor

Abstract

Non-invasive prenatal testing (NIPT) is a prenatal test that has experienced unprecedented commercial development and transformed prenatal care. The Ontario Ministry of Health presently funds NIPT as a first-tier prenatal screening option for high-risk singleton pregnancies and all twin pregnancies. Individuals who do not qualify for public funding or would like to screen for additional conditions can pay for NIPT privately, starting at approximately $495-$550 (CA) for baseline panels. Prenatal care providers such as family physicians, maternal-fetal-medicine specialists, obstetrician-gynaecologists, residents, midwives and registered nurses have an increasingly important role in offering NIPT in Ontario. Although these healthcare professionals do not have a specific genetic focus to their practice, little research exists exploring their experience of being at the forefront of counselling for this technology. This dissertation explores how these prenatal care providers in Ontario provide counselling for NIPT within their clinical practice.

Charmaz’s constructivist grounded theory methodology was used to explore how prenatal care providers have enacted the process of prenatal pre-test counselling since the introduction of NIPT in Ontario. A total of 19 providers who encounter NIPT professionally in the Ontario cities of London, Hamilton, Toronto and Kingston participated in this study. The resulting theoretical model describes how providers experience pre-test counselling considerations for NIPT, including challenges, ethical considerations, and patient engagement in decision-making. To address these issues and effectively counsel patients about this expanding technology requires ongoing education, support and resources.

Findings suggest practical, educational, and ethical inequalities between current NIPT panel options and prenatal care providers’ comfort and ability to provide pre-test counselling. Prenatal care providers require ongoing guidance and support as their role in prenatal screening is shifting to involve more complex counselling for NIPT. It is also essential to be proactive and develop supportive strategies to help providers navigate this technology's rapid expansion in the future.

Summary for Lay Audience

Non-invasive prenatal testing (NIPT) is an optional screening test that can tell a pregnant person if they have a high or low chance of having a baby with certain chromosome differences, including trisomy 21 (Down syndrome), trisomy 18, trisomy 13 and Turner syndrome. These chromosomal differences involve changes in a fetus's genetic material, which can lead to serious physical and developmental challenges. NIPT involves a maternal blood draw at 9-10 weeks of pregnancy and is funded in Ontario for all pregnant individuals who meet specific Ministry of Health criteria. Individuals can also pay for this test if they do not qualify for public funding.

Pre-test counselling involves giving information about the benefits and limitations of testing and addressing any potential medical, reproductive, and psychosocial implications of genetic test results. When NIPT in Ontario became publicly funded in 2014, healthcare professionals trained in genetics, such as genetic counsellors, provided counselling to facilitate a patient’s decision to undergo NIPT. Since then, many prenatal care providers not specialized in genetics, including family physicians, maternal-fetal-medicine specialists, obstetrician-gynaecologists, midwives and registered nurses, discuss NIPT during a prenatal care visit. However, there is concern that patients are not receiving adequate counselling due to barriers such as time constraints and a provider’s lack of knowledge about this technology. In addition, NIPT counselling is becoming more complex as screening expands to include more conditions and is used for non-medical purposes such as sex identification.

This research explores how prenatal care providers in Ontario provide pre-test counselling for NIPT within their clinical practice. I interviewed 19 providers from the Ontario cities of London, Hamilton, Toronto, and Kingston in 2016. From these interviews, I used the methodology “constructivist grounded theory” (as described by Kathy Charmaz) to generate a theoretical model. This model describes the practical, educational, and ethical issues between current NIPT panel options and these prenatal care providers' comfort and ability to provide pre-test counselling. These providers require ongoing guidance and support as their role in prenatal screening is shifting to involve more complex counselling for NIPT.

Creative Commons License

Creative Commons Attribution 4.0 License
This work is licensed under a Creative Commons Attribution 4.0 License.

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