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Kristina Correa
15 March 2016
Professor David Magnus
Dr. Ruth Tennen
THINK 11 Winter Section 05
Innovative Strategies in Supporting Informed Consent of NIPT
INTRODUCTION TO NONINVASIVE PRENATAL TESTING
Noninvasive prenatal testing (NIPT) is a screening test for pregnant women that supports
informed reproductive choices by providing genetic fetal information. Presently, NIPT is most
often used for medical purposes in high-risk women with singleton pregnancies. Professional
societies have not recommended testing average or low risk women and women with pregnant
with multiples until clinical trials have been performed.7 The number of women being
noninvasively prenatally tested is expected to increase as this research continues. Although NIPT
may be used for non-medical purposes, this paper will only discuss the most frequently
considered issues of currently accepted medical uses of NIPT.
The primary focus of this paper will be a study of NIPTs challenges to informed consent
and a discussion of possible methods of mitigating these challenges. I will first address
secondary issues of disability stigmatization, equal access, and commodification of children, then
discuss the current ethical climate surrounding informed consent. As NIPT is rapidly and
routinely implemented, there is a lack of access to support resources and reliable information
available to assist patients in fully understanding NIPT and abnormal pregnancies. To establish
the ethicality of NIPT, informed consent and reproductive autonomy must be respected; this
burden falls on prenatal care providers, companies providing non-invasive prenatal tests, and

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policy-making officials, all of which should be required to collaborate in establishing unbiased,
third-party regulation of NIPT. Such guidelines should lead to increased support resources and
innovative strategies for providing accurate information to educate patients and health
professionals.

NIPT BACKGROUND INFORMATION


Discovered in 1997, NIPT became commercially available in 2011 and is currently
offered by four independent companies. NIPT can identify fetal chromosomal aneuploidies, such
as trisomy 18, 13, or 21 through genetic analysis of cellfree fetal DNA (cffDNA) in the maternal blood.4
Although, current NIPT does not test for all
aneuploidies, the number of conditions being tested for
is expected to increase and may eventually include
identification of microdeletions, copy number
variations, and single-gene deletions.4 Prior to the
emergence of NIPT, prenatal testing commonly

Figure 1 Outline of processing and analysis


of cffDNA in NIPT.7

followed a two-step process of a serum screen followed


by an invasive diagnostic test, such as amniocentesis or

chorionic villus sampling (CVS), for women with positive screens. NIPT is being currently
offered as a substitution for serum screening tests.4

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COMMON BENEFITS AND ETHICAL CONCERNS OF NIPT
Benefits of NIPT include its accuracy as a screening test due to its lower false positive
rates than serum screening tests. Additionally, NIPT has a high efficacy rate when used as a
primary screen with a follow-up confirmation of positives through an invasive diagnostic test.7
NIPT is also considered a safer test, as
there is no risk of miscarriage, as
opposed to invasive diagnostic
procedures, which have a .3 % to 1%
miscarriage rate.3 Additionally, NIPT
allows for genetic diagnosis as early as
9-10 weeks into pregnancy. When
compared with the testing time for
invasive procedures, such as CVS and
4
amniocentesis (10-13 weeks and after 15 Figure 2 Prenatal screening and testing timeline.

weeks, respectively), NIPT provides additional weeks to make a decision on pregnancy


continuation.4 However, moral ambiguities over NIPT have emerged since its conception.
Disability groups argue that NIPT will cause increased terminations of affected
pregnancies, thereby having a negative effect on the disability community by decreasing
resources and support and potentially increasing stigma.4 However, from 1989 to 2001, Down
syndrome births have remained relatively constant in spite of more advanced screening
processes; NIPT can be expected to have the same limited effect on the disability community as
prior screening tests.1

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Another commonly raised concern is that unequal access to NIPT could aggravate wealth
disparities. However, insurance companies often have coverage decisions effective for NIPT
testing that reduce out-of-pocket cost. Without insurance, patients can expect to pay 800 to 3000
dollars for a test, which is expected to decrease and become more accessible as clinical research
continues.4
Additionally, worry has been expressed over objectification of children due to an increase
in selective abortion caused by NIPTs early testing time.2 However, this increase in selectivity
when deciding to terminate a pregnancy is an exercise of reproductive autonomy as long as
women are making informed and unpressured decisions. Early terminations can be
physiologically safer, less emotionally harmful, allow an abortion to be within a legal timeframe,
and considered more morally acceptable.3,4

INFORMED CONSENT AS A PRIMARY ETHICAL CONCERN OF NIPT


Lack of Patient Informed Consent
Issues with informed consent have arisen due to the wider scope of genetic abnormalities
tested and routinization of NIPT caused by early, safe, and reliable NIPT testing.
Pregnant women receive very little information prior to NIPT and are often not asked for
informed consent.1 These women are frequently unaware that an NIPT screen may lead to
difficult decisions, such as choosing to have an invasive diagnostic test or deciding to terminate a
pregnancy.1 For example, in 2013, Devan Weathers, a woman 20 weeks into her pregnancy,
received the NIPT diagnosis that her child would be born with Down syndrome.2 Weathers states
that she was in need of counseling but received no guidance from the medical community.2
Weathers is not a minority; patient informed consent can be undermined during NIPT in many

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ways. If patients are not properly counseled before and after NIPT, they face unpreparedly
receiving unexpected findings, regretful termination of a fetus due to misunderstood results, or
confusion and anxiety over interpreting a diagnosis full implications.4,7
Additionally, NIPT may become expected and seem trivial as it becomes normalized,
leading women to believe it is required.3 According to a 2009 German survey discussed by
Dagmar Schmitz et al., when women were asked why they underwent prenatal testing, 25%
stated that their physician wanted it; 36% thought that [prenatal testing] is mandatory; and
16% had not given consent or could not remember giving consent.5 Because NIPT does not
carry the same physiological risk as invasive procedures, discussing other consequences of the
test is overlooked.8 Invasive procedures are only given to a small group of women whose
screening tests showed positive, but NIPT is given to a larger group of women and encompasses
the ease of a screening with the accuracy of an invasive test, making the provision of counseling
difficult and often disregarded.3 Current practices surrounding NIPT make it challenging for a
woman to make an informed decision, which is in part due to provider attitudes surrounding
counseling and information distribution regarding NIPT.
Provider Attitudes and Training
There is a deficiency of informed health care providers offering NIPT. According to Amy
Swanson et al., a 2010 cffDNA testing survey of providers indicated that only 15% of
participants reported having a high level of knowledge about NIPT.7 As discussed by Brian
Skotko, co-director of the MassGeneral Down Syndrome program, doctors dont feel trained or
have an accurate understanding of genetic disease.2 A 2008 study of approximately 500
American Congress of Obstetricians and Gynecologists fellows discussed by Mollie Minear et al.
showed that only 29% of those surveyed gave educational materials to their patients after Down

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syndrome testing.4 With the majority of health care professionals lacking an understanding of
NIPT and not distributing resources to patients, it is evident that provider attitudes and education
must change before informed consent can be fulfilled.
For example, a 2010 empirical study on 231 obstetricians and midwives in the United
Kingdom performed by Ananda van den Heuvel et al. attempted to determine NIPTs effect on
informed consent by comparing the responses of prenatal providers on a questionnaire about
three prenatal tests.8 The questionnaire asked the prenatal health providers to indicate whether
they believed a consent form needed to be signed by a woman before proceeding with the test in
question, among other questions. 96% of the providers questioned thought that informed consent
should be attained for invasive testing, whereas only 68% thought that NIPT should require
informed consent.8 This study indicated that because health care providers viewed consent to
NIPT as less necessary, there is a high likelihood of challenge to informed consent for NIPT.

INNOVATIVE SOLUTIONS TO A LACK OF INFORMED CONSENT


Without informed consent, deliverance of NIPT violates reproductive autonomy;
therefore it is necessary to discuss solutions, such as new policy and reliable ways of educating
both patients and physicians, to eradicate the lack of informed consent.
An insufficient number of genetic counselors currently entails the need for more prenatal
care providers educated in genetic counseling. A 2009 survey of American Congress of
Obstetricians and Gynecologists fellows discussed by Minear reported that 85% of respondents
counsel their patients about screening and genetic disease, yet only 36% of respondents felt well
qualified to provide this counseling.4 However, Minear continues to explain that when health
care providers themselves are given educational pamphlets regarding genetic disease, they often

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feel more prepared and confident when they deliver a diagnosis.4 Informational materials and
other forms of education should strive to describe the methods and analysis of NIPT, offer
current explanations of complex genetic diseases that NIPT tests for, explain how to sensitively
and accurately provide this information to patients, and help providers either offer or direct
patients to resources such as pre- and post- test counseling.
Additionally, patients would benefit greatly from receiving these educational materials
from physicians. Patients that received informational pamphlets regarding NIPT stated that they
incorporated the materials into their decision to continue the pregnancy; however, as
mentioned previously, only 29% of providers offered these resources.4 Such materials should
include adequate, accurate, and up-to-date information on the implications of the conditions
being tested for, discuss limitations of the test as a screening test, and emphasize the optional
nature of the test so that women feel free to make an unpressured and educated decision based on
personal values.
Therefore, the provision and distribution of educational materials ranging from pamphlets to
videos would help mitigate lack of informed consent in regards to NIPT. However, the
informational materials created by a NIPT company may be inaccurate because there is a strong
incentive for these for-profit companies to biasedly market their products.4 Consequently, an
unbiased third party in the form of a professional society or an academic organization should
play a primary role in developing these informational materials.
Providing only educational pamphlets is not a thorough solution; offering these materials in
conjunction with new technology to provide health information is expected to offer a greater
effect. A 2015 empirical study at the Maternal Fetal Medical Clinic at Odense University
Hospital on the development of an interactive website was performed and discussed by Mette

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Skjoth et al.6 This interactive website was expected to help pregnant women attain accurate and
reliable information needed to make a decision about undergoing prenatal screening for Down
syndrome. The development was based on the International Decision Aid Standards
Collaboration guide. This study concluded that web-based interventions can change behavior
[and] improve knowledge.6 Although this study specifically concerned Down syndrome
screening, the same principles can be applied to creating web applications for other screenable
aneuploidies.
Future legislation may also help to increase informed consent. The 2008 Prenatally and Postnatally Diagnosed Conditions Awareness act was created to provide accurate medical
information and support service contact information to prenatal health providers.4 By working in
conjunction with professional societies, this legislation could help alleviate much of the
deficiency of information surrounding NIPT. Additionally, policy could be created to legally
require NIPT companies to verify patient informed consent received by physicians, thereby
holding not only physicians, but also NIPT companies accountable for lack of informed consent.

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MOVING FORWARD
In moving forward with providing ethical NIPT, further research must be done on
pregnant womens opinions, preferences, and expected burdens of NIPT.3 Additionally,
standards of care and professional guidelines surrounding NITP must be developed by policy
makers, health care providers, and reproductive professional societies.*
Overall, through implementation of policy and innovative strategies of physician and
patient education, the burden of information required for informed consent of NIPT will be met
and women undergoing NIPT can feel confident that their right to reproductive autonomy is
being respected.

Word count: 2093


* U.S. professional societies under consideration to take the role of creating and implementing guidelines are:
American College of Medical Genetics and Genomics, American Congress of Obstetricians and Gynecologists, Secretarys Advisory Committee
on Genetics, Health, and Society, International Society for Prenatal Diagnosis, Society of Maternal Fetal Medicine, International Society for
Prenatal Diagnosis, American Society of Human Genetics, National Society of Genetic Counselors, National Center for Prenatal and Postnatal
Down Syndrome Resources, Human Development Institute at the University of Kentucky, National Coalition for Health professional Education
in Genetics

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Works Cited
1. Benn, Peter A., and Audrey R. Chapman. "Practical and Ethical Considerations of
Noninvasive Prenatal Diagnosis." Journal of the American Medical Association 301.20
(2009): 2154-156. Web.
2. Bindley, Katherine. "As Prenatal Testing For Down Syndrome Increases, So Do Concerns
About Counseling." The Huffington Post. TheHuffingtonPost.com, 22 Aug. 2013. Web.
10 Mar. 2016. <http://www.huffingtonpost.com/2013/08/20/prenatal-testing-downsyndrome_n_3744893.html>.
3. De Jong, Antina, Wybo J. Dondorp, Christine E M De Die-Smulders, Suzanne G M Frints,
and Guido M W R De Wert. "Non-invasive Prenatal Testing: Ethical Issues Explored."
European Journal of Human Genetics 18.3 (2009): 272-77. Web.
4. Minear, Mollie A., Stephanie Alessi, Megan Allyse, Marsha Michie, and Subhashini
Chandrasekharan. "Noninvasive Prenatal Genetic Testing: Current and Emerging Ethical,
Legal, and Social Issues." Annual Review of Genomics and Human Genetics 16.1 (2015):
369-98. Web.
5. Schmitz, Dagmar, Christian Netzer, and Wolfram Henn. "An Offer You Can't Refuse? Ethical
Implications of Non-invasive Prenatal Diagnosis." Nature Reviews Genetics 10.8 (2009):
515. Web.
6. Skjoth, Mette M., Helle P. Hansen, Eva Draborg, Claus D. Pedersen, Ronald F. Lamont, and
Jan S. Jorgensen. "Informed Choice for Participation in Down Syndrome Screening:
Development and Content of a Web-Based Decision Aid." Journal of Medical Internet
Research- Research Protocols 4.3 (2015): n. pag. Web.
7. Swanson, Amy, Amy J. Sehnert, and Sucheta Bhatt. "Non-invasive Prenatal Testing:

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Technologies, Clinical Assays and Implementation Strategies for Womens Healthcare
Practitioners." Current Genetic Medicine Reports 1.2 (2013): 113-21. Web.
8. Van Den Heuvel, Ananda, Lyn Chitty, Elizabeth Dormandy, Ainsley Newson, Zuzana Deans,
Sophie Attwood, Shelley Haynes, and Theresa M. Marteau. "Will the Introduction of
Non-invasive Prenatal Diagnostic Testing Erode Informed Choices? An Experimental
Study of Health Care Professionals." Patient Education and Counseling 78.1 (2010): 2428. Web.