Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It

Abstract

Objective:
This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT).

Methods:
Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study.

Results:
A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77.2%). They preferred getting information ahead of time, except for information about resources for families with Down syndrome, which they preferred getting with test results. More than half thought that written consent is important (63.7%) and could decide whether to do NIPT on the day they received the information (54.9%). Women preferred to be informed of results by telephone (43.7%) or in person (28%), but they preferred in person if they were considered at high risk for Down syndrome on the basis of the results (76%). The partner was the person whose input was considered most important (62.6%). Partners' preferences were similar, except that partners tended to want information later (at the time of the test or with the results) and felt that their opinion was not considered as highly by health professionals.

Conclusion:
Canadian women want information about NIPT early, in person, by a knowledgeable physician. Partners also want to be informed and involved in the decision-making process.

Full text

HEALTH POLICY
Canadian Pregnant Women’s
Preferences Regarding NIPT for Down
Syndrome: The Information They Want,
How They Want to Get It, and With
Whom They Want to Discuss It
Anne-Marie Laberge, MD, PhD;
1,2,3
Stanislav Birko, BSc;
4
Marie-

Eve Lemoine, MA, PhD(c);
4
Jessica Le Clerc-Blain, MSc;
3
Hazar Haidar, PhD;
5,6
Aliya O. Affdal, MA;
4
Charles Dupras, PhD;
5,6
Vardit Ravitsky, PhD
4
1
Department of Pediatrics, Universit
e de Montr
eal, Montr
eal, QC
2
Service de g
en
etique m
edicale, Centre hospitalier universitaire Sainte-Justine, Montr
eal, QC
3
Centre de recherche du Centre hospitalier universitaire Sainte-Justine, Montr
eal, QC
4
Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, Universit
e de Montr
eal,
Montr
eal, QC
5
Institute for Health and Social Policy (IHSP), McGill University, Montr
eal, QC
6
Centre de recherche en 
ethique (CR

E) de l’Universit
e de Montr
eal, Montr
eal, QC
Abstract
Objective: This study sought to assess Canadian pregnant women’s
and their partners’preferences for information about non-invasive
prenatal testing (NIPT).
Methods: Pregnant women and their partners across Canada were
surveyed as part of the Personalized Genomics for prenatal
Aneuploidy Screening Using maternal blood (PEGASUS) study.
Results: A total of 882 pregnant women and 395 partners participated.
Women preferred being informed by a physician (77.2%). They
preferred getting information ahead of time, except for information
about resources for families with Down syndrome, which they
preferred getting with test results. More than half thought that written
consent is important (63.7%) and could decide whether to do NIPT
on the day they received the information (54.9%). Women preferred
to be informed of results by telephone (43.7%) or in person (28%),
but they preferred in person if they were considered at high risk for
Down syndrome on the basis of the results (76%). The partner was
the person whose input was considered most important (62.6%).
Partners’preferences were similar, except that partners tended to
want information later (at the time of the test or with the results) and
felt that their opinion was not considered as highly by health
professionals.
Conclusion: Canadian women want information about NIPTearly, in
person, by a knowledgeable physician. Partners also want to be
informed and involved in the decision-making process.
Résumé
Objectif : Cette étude visait à déterminer les préférences des femmes
enceintes et de leur partenaire quant à la communication de
renseignements relatifs au test prénatal non effractif (TPNE).
Méthodologie : Des femmes enceintes et leurs partenaires canadiens
ont été sondés dans le cadre de l’étude PEGASUS (Génomique
personnalisée pour le dépistage prénatal de l'aneuploïdie à l'aide du
sang maternel).
Résultats : Au total, 882 femmes enceintes et 395 partenaires ont
répondu au sondage. Selon ce dernier, les femmes préfèrent que
les renseignements viennent d'un médecin (77,2 %), et préfèrent
les recevoir à l'avance, sauf ceux sur les ressources destinées aux
familles touchées par le syndrome de Down, qu'elles aiment mieux
obtenir avec les résultats du test. Plus de la moitié des répondantes
estiment que l'obtention d'un consentement écrit est importante
(63,7 %) ou être en mesure de prendre une décision relative au
TPNE le jour même où elles reçoivent les renseignements (54,9 %).
Les femmes aiment également mieux recevoir les résultats du test
par téléphone (43,7 %) ou en personne (28 %), mais préfèrent les
recevoir en personne s'ils font état d'un risque élevé de syndrome
de Down (76 %). Elles considèrent que l'opinion de leur partenaire
est celle qui compte le plus (62,6 %). Les partenaires ont des
préférences semblables à celles des femmes enceintes;
A-M. Laberge
Key Words: Non-invasive prenatal testing, NIPT, preferences,
survey, decision making, Down syndrome
Corresponding author: Dr. Anne-Marie Laberge, Service de
g
en
etique m
edicale, Centre hospitalier universitaire Sainte-Justine,
Montr
eal, QC. anne-marie.laberge.hsj@ssss.gouv.qc.ca
Competing interests: See Acknowledgements.
Received on August 24, 2018
Accepted on October 31, 2018
000 JOGC 000 2018 1

cependant, ils préfèrent recevoir les renseignements plus tard (au
moment du test ou de l'obtention des résultats), et ont l'impression
que leur opinion compte moins que celle des femmes aux yeux des
professionnels de la santé.
Conclusion : Les Canadiennes veulent que les renseignements
relatifs au TPNE leur soient donnés tôt, en personne et par un
médecin qui s'y connaît. Les partenaires veulent également
recevoir ces renseignements et participer à la prise de décision.
© 2018 The Society of Obstetricians and Gynaecologists of Canada/La
Société des obstétriciens et gynécologues du Canada. Published by
Elsevier Inc. This is an open access article under the CC BY-NC-ND
license. (http://creativecommons.org/licenses/by-nc-nd/4.0/)
J Obstet Gynaecol Can 2018;000(000):1−10
https://doi.org/10.1016/j.jogc.2018.11.003
INTRODUCTION
Professional societies have issued practice guidelines rec-
ommending that health care providers offer prenatal
screening for Down syndrome (DS) to all pregnant
women.
1−5
In 2013, the Genetics Committee of the Society
of Obstetricians and Gynaecologists of Canada (SOGC) rec-
ommended that non-invasive prenatal testing be offered as a
second-tier screening test to pregnant women at high risk of
fetal aneuploidies on the basis of regular screening available
in their province or territory.
2
Atthetimeofthestudy,in
Canada, non-invasive prenatal testing (NIPT) was covered as
a second-tier test only in the province of Ontario. In other
provinces, NIPT was available only as an out-of-pocket test
or through private insurance.
However, guidelines contain limited guidance on how
NIPT should be offered. Traditionally, medical geneticists
and genetic counsellors have advocated for nondirective
counselling. However, this is not always aligned with
patients’preferences and needs.
6
Other models, such as
shared decision making or hybrid models, do not specify
what information is relevant to screening decisions, how
and when such information should be given, and who
should be involved in the decision-making process.
5,7
With
NIPT, counselling and decision-making considerations are
crucial to foster reproductive autonomy.
8−10
Evidence is emerging about the preferences of women
regarding NIPT. Women are interested in information
about test attributes (e.g., detectable conditions, detection
rates, risk of false-positive results, and pros and cons of
NIPT compared with other tests) and information about
the expected quality of life and health of people living with
the conditions being screened.
9
Women show an over-
whelming preference for obtaining information in person
from their health care provider as opposed to written or
online material.
11
Most say that they could decide regarding
NIPT in the same time-frame as conventional screening.
9
As for pressures that may be imposed on pregnant women,
women decide about NIPT mainly on their own, but they
report considering input from their partner and rarely
from health care providers.
11
Pregnant women report greater interest in practical infor-
mation about what it is to live with the screened conditions
than in the attributes of testing or clinical characteristics of
the disease.
12−14
In many instances, the information pro-
vided is insufficient to meet the requirements for informed
choice.
15−18
Women themselves have reported being dis-
satisfied with the information they received.
15,19
The introduction of NIPT into Canadian health care pro-
vides a new opportunity to address women’s informational
preferences in their decision-making process about this
test. We report here the results of our survey of Canadian
pregnant women and their partners on their preferences
with regard to the information they receive and their deci-
sion-making process in the context of prenatal screening
for DS.
METHODS
This work is part of a large pan-Canadian study aiming to
“validate the performance and utility of [NIPT] for screen-
ing for major fetal chromosome imbalances”titled “Per-
sonalized Genomics for prenatal Aneuploidy Screening
Using maternal blood”or PEGASUS (http://pegasus-
pegase.ca/). Two of the authors led (V.R.) and co-led
(A.M.L.) the PEGASUS research activity that focused on
ethical, legal, and social issues of NIPT, including this
study.
Questionnaire Development
Questionnaires targeting pregnant women and their partners
were developed by the research team on the basis of a review
of the relevant literature (H.H.), clinical experience of two
authors (J.L.B. and A.M.L.), and questionnaires used in previ-
ous studies.
20−27
An initial template was developed and
refined by all authors. The questionnaire for pregnant women
was reviewed by the PEGASUS team (France Legareand
team, William Ehman, Fran¸cois Rousseau, Brenda Wilson,
ABBREVIATIONS
DS Down syndrome
NIPT non-invasive prenatal testing
PEGASUS Personalized Genomics for prenatal Aneuploidy
Screening Using maternal blood
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Lyn Chitty) for content validity and feasibility. The question-
naire for pregnant women was piloted on eight women of
reproductive age, followed by cognitive debriefing. On the
basis of pilot results, the questionnaire was modified for clar-
ity and length. The questionnaire was developed in English
and translated into French. The French version was reviewed
by multiple French speakers on the PEGASUS team. The
questionnaire for partners was adapted from the question-
naire developed for pregnant women, to allow for direct
comparison of partners’responses with pregnant women’s
responses.
The pregnant women’s questionnaire (41 questions) and
partners’questionnaire (43 questions) explored the same
themes: knowledge about DS and NIPT, informed con-
sent, uses of NIPT, decision making and the involvement
of others, social impact of NIPT, and future uses of NIPT.
Both questionnaires collected relevant sociodemographic
information. Question formats included Likert scales,
true-or-false statements, multiple choice, and ranking. The
questionnaire was distributed along with an information
sheet explaining the differences among maternal serum
screening, amniocentesis, and NIPT that could be used if
participants needed more information. The information
sheet gave brief descriptions of the procedures, timing of
tests, risk for pregnancy, accuracy, nature of the test
(screening vs. diagnostic), potential results, and potential
outcomes.
Participant Eligibility and Recruitment
The survey ran during a 16-month period, from March
2015 to July 2016. Recruitment occurred at five Canadian
sites in Alberta, British Columbia, Ontario, and Quebec,
where the PEGASUS study ran, as well as one additional
site in Newfoundland and Labrador.
All pregnant women attending a routine pregnancy
appointment at one of these sites during that period were
eligible to participate. Aside from being currently pregnant,
there were no other explicit inclusion criteria. No incentive
for participating was provided. Respondents were provided
with a paper copy of the questionnaire, which included a
URL for an online version. No risks associated with partic-
ipating in the study were anticipated. The questionnaire’s
cover page explained that by completing and submitting
the questionnaire, respondents consented to participate.
All pregnant women who were approached were also given
a survey for their partner to complete.
Data Analysis
Data were analyzed using IBM SPSS Statistics for Win-
dows, Version 24.0 (IBM Corp, Armonk, NY). Descriptive
statistics were calculated. Participants’responses were ana-
lyzed on the basis of their sociodemographic characteris-
tics, their stated intended use of test results, and
knowledge of DS and testing options available. Statistical
analysis was performed using Pearson chi-square tests,
Kruskal-Wallis and Mann-Whitney Utests, and Kendall’s
tau correlations where applicable.
Ethics Approval
Ethics approval was obtained from the Centre hospitalier
universitaire Sainte-Justine associated with the University
of Montreal (#3781) as well as from the Centre de
recherche du Centre hospitalier universitaire de Quebec
(#B14-10-2146), the Ottawa Hospital Research Institute,
BC Children’s Hospital, the University of Calgary, and the
Newfoundland and Labrador Health Research Ethics
Authority.
RESULTS
Participants
A total of 882 pregnant women and 395 partners of
pregnant women participated in the study. Assuming
380 000 annual births in Canada, this yields a maxi-
mum margin of error of 3.29% for the pregnant
women sample and 4.93% for the partner sample
(assuming all women had a partner). In four of the five
recruitment centers (in British Columbia, Quebec [2],
and Ontario), the number of pregnant women
approached was documented—1603. Of these 1603,
755 completed the questionnaire, yielding a response
rate of 47.1%. Of the 1603 pregnant women
approached, 366 partners completed the survey (22.8%
or more, considering that not all pregnant women with
a partner necessarily gave their partner the survey).
Pregnant women’s and partners’characteristics are sum-
marized in Table 1.
We focus here on results about women’s informational
preferences and decision-making process. Other results
from these surveys are presented elsewhere (manuscripts
submitted).
Women’s and Partners’Preferences Regarding How
They Are Informed About NIPT
Preferences about health professionals
Women were asked to rank the person with whom they
would prefer to discuss NIPT. The most popular first
choice was a genetics specialist (35.6%), followed by a fam-
ily physician (29.6%) and an obstetrician/gynaecologist
(25.9%), nurses (4.2%), and midwives (0.7%).
Canadian Pregnant Women’s Preferences Regarding NIPT for Down Syndrome
000 JOGC 000 2018 3

Table 1. Demographics
Characteristic
No. (%) of
pregnant women
n = 755
No. (%) of
partners
n = 366
Age
Mean (SD) 32.3 (4.8) 33.5 (5.7)
Gender (of partner)
Other than male N/A 11 (2.8%)
Province of residence
British Columbia 251 (28.5%) 24 (6.1%)
Alberta 116 (13.2%) 28 (7.1%)
Manitoba 2 (0.2%) 0
Ontario 118 (13.4%) 78 (19.7%)
Qu
ebec 387 (43.9%) 264 (66.8%)
Atlantic provinces 2 (0.2%) 0
Territories (Nunavut/Northwest Territories/Yukon) 2 (0.2%) 0
Country of birth
Canada 708 (80.3%) 342 (86.8%)
Language mostly spoken at home
English 478 (54.2%) 134 (33.9%)
French 355 (40.2%) 257 (65.1%)
Other 37 (4.2%) 12 (3.0%)
Race/ethnicity
Caucasian/White 718 (81.4%) 340 (86.1%)
North American Aboriginal (First Nation, Inuit, M
etis) 14 (1.6%) 9 (2.3%)
Other 150 (17.0%) 46 (11.6%)
Highest completed education level
Elementary school 2 (0.2%) 5 (1.3%)
High school 62 (7.0%) 57 (14.6%)
Trade school 47 (5.3%) 50 (12.8%)
CEGEP/college 175 (19.8%) 74 (18.9%)
University 590 (66.9%) 205 (52.4%)
Are you a health care professional: Yes 233 (26.5%) 30 (7.8%)
Relationship status
Married 511 (57.9%) 158 (40.0%)
Common law 334 (37.9%) 213 (53.9%)
Single 23 (2.6%) 10 (2.5%)
Divorced/separated 3 (0.3%) 2 (0.5%)
Other 4 (0.5%) 4 (1.0%)
Already has a child 404 (45.8%) 151 (39.0%)
Already has a child with DS 5 (0.6%) 1 (0.3%)
Already has a child with physical or intellectual disability 9 (1.0%) 1 (0.3%)
Knows someone close to them who has a child with DS 68 (7.7%) 35 (9.0%)
Current pregnancy is
Low risk for DS 565 (64.1%) 235 (60.1%)
High risk for DS 99 (11.2%) 43 (11.0%)
Unsure 207 (23.5%) 113 (28.9%)
(continued)
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Partners’most popular first choice was a family physician
(33.3%), followed closely by an obstetrician/gynaecologist
(29.9%) or a genetics specialist (28.6%). Nurses (3.4%) and
midwives were far behind (4.0%).
Preferences about information medium
More women preferred being informed in person through a
discussion with their prenatal caregiver (77.2%) than by bro-
chures (55.0%), websites (51.8%), videos (13.0%), or group
Table 1. (Continued)
Characteristic
No. (%) of
pregnant women
n = 755
No. (%) of
partners
n = 366
Current pregnancy was conceived
Naturally 790 (89.6%) 356 (91.3%)
Using IVF 48 (5.4%) 17 (4.4%)
Using ARTother than IVF 24 (2.7%) 17 (4.4%)
Has had prenatal screening in a previous pregnancy 284 (32.5%) 99 (25.7%)
Has had prenatal diagnosis (chorionic villus sampling or
amniocentesis) in a previous pregnancy
58 (6.7%) 32 (8.2%)
Average knowledge score about DS (maximum score = 6) 5.2 4.9
Average knowledge score about prenatal screening, amnio-
centesis and NIPT (maximum score = 7)
5.4 4.9
Reason interested in knowing whether baby has DS NIPT
To know in advance to prepare for birth of a baby with DS 27.1% 22.7%
To consider terminating the pregnancy if baby has DS 52.9% 50.1%
Unsure 14.3% 15.8%
Don’t want to know 2.3% 2.4%
ART: assisted reproductive technology; DS: Down syndrome; IVF: in-vitro fertilization; NIPT: non-invasive prenatal testing; SD: standard deviation.
Table 2. Women’s and partners’preferences about timing of information
a
Type of information
Early prenatal
appointment
ahead of time
of NIPT (%)
Same day
as blood
test for
NIPT (%)
When you
get the
NIPT
results (%)
Not
interested
in this
information (%) N/A (%) Pvalue
What is DS? 81.1
77.4
6.8
11.8
9.2
8.0
2.6
2.8
0.3 0.002
How good the test is for detecting
DS
82.3
73.1
10.9
17.4
4.0
6.2
1.4
3.3
1.4 <0.001
What the test can and cannot tell 81.5
74.6
11.5
16.2
3.3
6.3
1.7
2.9
2.0 <0.001
What is the chance that you can
have a baby with DS (according
to family history, age, previous
pregnancy history)?
78.0
70.5
8.7
13.7
8.5
11.4
2.7
4.4
2.0 <0.001
What are the possible results (high
vs. low risk for DS)?
65.9
62.2
17.2
22.0
12.8
12.4
2.4
3.4
1.7 0.006
What are my options if the result is
positive?
53.9
52.1
12.6
17.7
29.1
26.9
2.7
3.3
1.7 0.002
What are the available resources
for families who have children
with DS?
35.1
41.0
4.6
11.0
54.5
43.1
4.2
4.9
1.5 <0.001
NIPT: non-invasive prenatal testing; DS: Down syndrome.
a
Women’s responses are in regular font; partners’responses are in italics.
Canadian Pregnant Women’s Preferences Regarding NIPT for Down Syndrome
000 JOGC 000 2018 5

meetings (4.2%). Brochures were more popular among
French-speakers (64.5%; 229 of 355) than English speakers
(49.0%; 234 of 478) or those speaking other languages
(43.2%; 16 of 37) (P<0.001). Brochures were also more
popular in Eastern Canada (Ontario, Quebec, Atlantic Prov-
inces) (62.1%; 315 of 507) than in the West (Alberta, British
Columbia) (45.3%; 168 of 371) (P<0.001).
Partners almost equally preferred being informed through
a discussion with the prenatal caregiver (58.5%), websites
(53.9%), or brochures (53.7%).
Preferences about type of information provided
and timing of information
Women were asked when would be the best time to receive
different types of information (Table 2). The majority of
women preferred to receive information ahead of time
(i.e., during an early prenatal appointment). At this visit,
they were most interested in information about DS
(81.1%), the risk of having a child with DS (78.0%), the
performance of NIPT (81.5%), and the limits of NIPT
(82.3%). Only a minority of women were interested in
obtaining information on the day of the test (4.6% to
17.2%), with the highest interest being in possible results
of the test (17.2%). The information women were most
interested in getting with the results of the test were the
available options if the result was positive (29.1%) and
available resources for families who have children with DS
(54.5%). Women were more interested in learning about
available options ahead of time than with the results
(53.9% vs. 29.1%).
Information about available resources for families with DS
was preferred ahead of time by women with a previous
pregnancy with a high risk of DS result on screening
(P<0.001).
The majority of partners also preferred information ahead
of time for all but one topic: resources for families who
have children with DS, which they would prefer hearing
about with the test results (Table 2). The pattern of
responses was significantly different between women and
partners for all topics (Table 2).
Preferences about consent process for NIPT
The majority of women thought it was important to
obtain written consent for NIPT (63.7%), some were
unsure (7.8%), and others did not think it was impor-
tant (28.0%). Women who believed written consent was
important were more concerned about the potential
reduction in resources for individuals with DS and their
families (P<0.05). Similarly, the majority of partners
thought that it was important to obtain written consent
for NIPT (62.9%), some were unsure (10.0%), and
others did not think it was important (26.6%).
Preferences about time for decision about NIPT
Women were divided on how much time they needed to
decide whether to choose NIPT: 54.9% said they would be
able to decide during the appointment when they were
informed about the test, whereas 44.1% would want a few
days to think about it. Partners were also divided: 52.1%
said that they would decide when test was offered, and
39.2% would want a few days to decide.
Women who intended to use NIPT as a way to know about
DS in advance and prepare for the birth of a child with DS
tended to prefer to think it over (50.0%; 119 of 238), as
did those who were unsure why they would choose NIPT
or those who intended not to choose NIPT (65.1%; 82 of
126), as opposed to women who intended to use NIPT to
allow for termination, who tended to say they could decide
during the appointment (65.3%; 305 of 467) (P<0.001).
Women who had a clear opinion about the need for written
consent (either that it was important or that it was not)
tended to say they could decide during the appointment
(56.7%; 459 of 809), whereas women who were unsure
about the importance of written consent said they would
need more time to decide (63.2%; 43 of 68) (P<0.001).
Women who were least knowledgeable about DS and avail-
able tests preferred a few days to think about their decision
(P<0.05).
Preferences about communication of NIPT results
If the result of NIPT indicated a low risk that the fetus had
DS, women preferred receiving results by telephone
(43.7%) or in person (28%). If the result of NIPT indicated
a high risk that the fetus had DS, women overwhelmingly
preferred to be informed in person (74.6%), as opposed to
being informed by telephone (16.8%). Results were similar
for partners (not shown).
In the case of a low-risk result, women in Alberta and
Ontario preferred being told in person, whereas women in
British Columbia and Quebec preferred to be told over the
telephone (P<0.001).
Role of Others in Decision Making (Questions 16−18)
Importance of input of others in decision about NIPT
Women were asked to rank in order of importance the
input of others about their decision to choose NIPT
(Figure 1). The person ranked first by most women was
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their partner (62.6%), followed by their own prenatal care
professional (13.5%) and a specialist (medical geneticist,
obstetrician) (12.5%). The input of family members (3.9%)
and the input of friends and colleagues (5.1%) were not
considered as important.
The majority of partners (78.8%) ranked their partner
(the pregnant woman) first, but some partners ranked a
medical specialist (12.8%) or their partner’s own prenatal
care professional (6.8%) as the person whose input was
most important in the decision to choose NIPT (Figure 1).
Importance of input of partner in decision about
current screening, amniocentesis, and NIPT
When asked how much input the partner should have in a
woman’s decision about current screening, amniocentesis,
and NIPT, over 90% said the partner should have some
to a lot of input. On a Likert scale from 1 (no input) to 5
(a lot of input), women ranked the importance of the
input of their partner at 4.1 for current screening, 4.2 for
amniocentesis, and 4.1 for NIPT.
Over 89% of partners also felt that a partner should have
some to a lot of input in a woman’s decision about these
tests. Over 92% of partners felt that their opinion was
actually taken into account at least somewhat by their preg-
nant partner. Detailed results about NIPT are presented in
Figure 2.
Women were asked whether the fact that their partner dis-
agreed with their decision to do or not do NIPT would
have an impact on their decision (Figure 3). The majority
of women said it would have at least some impact (74%),
including 16.8% who said it would have a big impact on
their decision. On a scale of 1 (no impact) to 5 (a big
impact), women ranked the impact of a disagreement with
their partner on average as a 3.1. The highest they ranked
the importance of the partner’s input, the greater impact
on their decision a disagreement would have (P<0.001).
The majority of partners (81.1%) said that a disagreement
with their partner about the decision to do NIPT would
have at least some impact on their view, including 27.4%
saying it would have a big impact. Partners ranked the
impact of disagreement on average at a 3.5.
Importance of input of health professionals
in decision about NIPT
When asked how much input a health professional should
have in a woman’s decision about current screening,
Figure 2. Importance of input of health professionals and
partners on decision about non-invasive prenatal testing.
0.0 0.2 0.4 0.6 0.8 1.0
Partners
Health professionals
Pregnant women’s views
None
A little
Some
More
A lot
0.0 0.2 0.4 0.6 0.8 1.0
Partners' perception of HP's
consideration of their input
Partners' perception of women's
consideration of their input
Importance of their own input
Partners’ views
None
A little
Some
More
A lot
(A) Importance of input of health professionals and partners from
pregnant women’s perspective. (B) Importance of input of partners
from partners’perspectives, and partners’perceptions of how their
input is considered by women and health professionals (HPs).
Figure 3. Impact of disagreement with partner about
decision to have non-invasive prenatal testing on pregnant
woman’s decision and her partner’s view about decision.
0% 20% 40% 60% 80% 100%
Partners
Pregnant women
None A little Some More A lot of impact
Figure 1. Importance of input of others on the decision
about non-invasive prenatal testing.
0.26%
1.31%
12.83%
6.81%
78.80%
5.10%
3.90%
12.50%
12.50%
62.60%
0% 20% 40% 60% 80% 100%
Friends and colleagues
Family members
Specialist
Prenatal caregiver
Partner
Pregnant women Partners
Person ranked first in importance by pregnant women (dark grey)
and partners (light grey).
Canadian Pregnant Women’s Preferences Regarding NIPT for Down Syndrome
000 JOGC 000 2018 7

amniocentesis, and NIPT, over 80% said health professio-
nals should have some to a lot of input (see Figure 2 for
NIPT). On a Likert scale from 1 (no input) to 5 (a lot of
input), the average importance of health professionals was
3.4 for current screening, 3.5 for amniocentesis, and 3.5 for
NIPT. Women who knew less about NIPT gave more
importance to the input of health professionals. French
speakers gave more importance to the input of health
professionals for amniocentesis and NIPT than others
(P<0.001). Women who had a child with a disability gave
less importance to the input of health professionals for cur-
rent screening and amniocentesis than those who did not
(P<0.001). Partners felt their opinion is taken into account
at least somewhat by health care providers when deciding
about current screening (80.0%), amniocentesis (84.1%),
and NIPT (82.7%).
DISCUSSION
In summary, women prefer to be informed by a physician,
in person, and to get information about DS and the test
ahead of time. The majority of women think written con-
sent is important and could decide whether to do NIPT on
the day they receive the information. Women want to be
informed of test results by telephone or in person, and
they prefer being informed in person if considered at high
risk of DS before testing. The partner is the person whose
input is considered most important, followed by the input
of health professionals.
Surprisingly, few of these preferences are correlated with
women’s observed level of previous knowledge of DS or
knowledge of available screening and diagnostic tests. We
would have expected those with lower knowledge levels to
have different informational preferences than those with
more extensive previous knowledge. We expected that
those with less prior knowledge would see an opportunity
to fill in gaps to be equipped to make an informed deci-
sion. Our findings suggest that the decision about NIPT is
not based solely on knowledge: only those with the least
knowledge need more time to decide about NIPT. Even in
this case, these women do not necessarily need different
types of information, but they simply need time to reflect
on how to integrate this new knowledge into their deci-
sion-making process along with their values and preferen-
ces. On a related note, intention to use the information to
continue or terminate the pregnancy is correlated only with
time needed to decide about NIPT, but not with any other
need or preference about how to receive information and
decide about NIPT. Furthermore, we did not find any cor-
relation between women’s preferences and their personal
level of risk for DS.
Compared with previous studies,
9,11
our results add greater
detail about the type of information women and partners
want to receive, when they prefer receiving these different
types of information, and how they want to receive it. Our
results also add insight into the importance of others, par-
ticularly partners and health professionals, in pregnant
women’s decision-making process and how partners’pref-
erences compare with pregnant women’s.
Women’s views emphasize the importance of partners’
input into their decision-making process. Partners are
interested in being informed and feel their input is impor-
tant. Unfortunately, partners are rarely specifically targeted
or solicited when providing information about screening,
amniocentesis, or NIPT or in studies on decisions about
prenatal screening and testing.
27,28
Partners are not neces-
sarily present when such tests are discussed at an early pre-
natal visit, and this may explain partners’higher interest in
getting information at later times compared with pregnant
women. There is a need to find systematic ways to include
partners in the counselling and decision-making process.
28
Women’s preferences and expectations have implications
for how services are organized. For example, most women
would prefer to receive information about NIPT from a
physician, preferably a specialist. They would also prefer
getting their results in person. Depending on the province
or region, there may not be enough specialists available to
provide such counselling and follow-up for all pregnant
women. Decision aids to help pregnant women and their
physicians engage in shared decision making regarding
NIPT are being developed and tested.
29
Access to allied
health professionals who have the required training and
expertise to provide pretest and post-test counselling about
NIPT could be an alternative.
Strengths of this study include the large number of women
surveyed across Canada, the fact that women at both high
risk and low risk were surveyed, and that partners were
also surveyed. Limits include different modes of recruit-
ment across centers. Moreover, we observed in our sample
an overrepresentation of Quebec participants (and of
French speakers). The differences between French speak-
ers and English speakers are limited, so we do not expect
this to have had a large impact on the generalizability of
our findings. The proportion of common law relationships
is consistent with what is observed in the general popula-
tion, particularly in Quebec, where about 36% of couples
are in common law partnerships (and 54% for 30- to
34-year-olds) compared with 19% in the rest of Canada.
30
We also observed an overrepresentation of highly educated
participants and of health care professionals compared
HEALTH POLICY
8000 JOGC 000 2018

with the general Canadian population. We hypothesize that
the need for additional information and decision-making
support in this sample with high education and health care
background suggests that this need may be even greater in
groups with less prior education or awareness of such
issues. Other limits are inherent to quantitative surveys:
participants cannot explain the reasoning behind their
answers.
CONCLUSION
Innovative tools and approaches need to be developed
to give Canadian women and their partners the infor-
mation they need regarding NIPT in a way that is
both useful and aligned with their preferences. On the
basis of our results, such tools and approaches need
to take into account that women and partners prefer
receiving almost all types of information (information
about DS, the risk of DS for the pregnancy, NIPT
and its possible results, and available options in the
case of a positive result) at an early prenatal appoint-
ment, ahead of the test. Women and partners prefer
receiving information about resources available for
children with DS with the test result, if the result is
positive. Pretest counselling should also value the
input of partners in the decision-making process and
assess the potential for disagreement between the
woman and her partner. Future guidelines about the
provision of NIPT in Canada should take these find-
ings about women’s and partners’preferences into
account to ensure that women’s decision-making pro-
cess about NIPT is well supported.
Acknowledgements
Dr. Ravitsky and Dr. Laberge are investigators in the PEG-
ASUS Research Project that was funded by Genome Canada,
Genome Quebec, and the Canadian Institutes of Health
Research. PEGASUS received co-funding or in-kind funding
from private corporations that offered either commercial
NIPT tests (Ariosa Diagnostics Inc, San Jose, CA) or
reagents and/or equipment that can be used to perform
NIPT assays (Life Technologies Inc, NY; Illumina, San
Diego, CA; QIAGEN, Hilden, Germany; Perkin Elmer,
Waltham, MA). This funding was at arm’slengthfromthe
scientific component of the project. The Reseau de Medecine
Genetique Appliquee, a research network funded by the
Fonds de Recherche du Quebec −Sante, has also provided
co-funding. Dr. Laberge has a Canadian Institutes of Health
Research New Investigator Salary Support Grant and has
received a the Fonds de Recherche du Quebec −Sante Start-
ing Grant for New Investigators −Junior 1.
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