Introduction
In the “good old days” an expectant mother would, after a time, deduce that she was pregnant. From there, speculation would take over as to whether her child was a boy or a girl based upon the way she was carrying, or what she had been eating, or the food to which she had developed aversions. Apart from suspicions and the stuff of old wives’ tales, little was known about the growing life within, and the mother was left to anticipate and hope.
Now, an increasing amount of information can be derived through various tests, screenings, and monitoring of the child through its earliest days. For example, genetic tests have become a standard aspect of pregnancy care in medically advanced countries such as the United States.[1] Non-Invasive Prenatal Testing (NIPT) is one such test, and it continues to grow in popularity.[2] Much as going to college is often the assumed next step following high school graduation, prenatal testing is generally accepted as “what you do” when a woman is expecting. It might be prudent, therefore, for Christians to honestly grapple with some of the ethical considerations these tests raise.
Some General Concerns
The subtleties of language that present such technological interventions as an assumption reveal a bias that can be coercive. Surprisingly, one study showed that women who decline prenatal testing make more informed decisions than those who simply accept the test out of routine practice.[3] Out of the desire to want what is best for her child, studies have shown that when something in prenatal practice has risen to being considered “routine,” most women will follow along with what is recommended or follows common practice.[4] Furthermore, as NIPT is utilized more and its benefits are enumerated, it “may lead to normalizing prenatal screening as just one further test pregnant women are expected to take.”[5] While widespread approval is not necessarily problematic, it does warrant a watchful eye to ensure that the favor granted is not abused or thoughtlessly permitted to establish norms that may be influenced by prejudice or bias.
While NIPT is considered by some to be “the holy grail” of prenatal testing, there are critics of the technology’s use.[6] For example, it is unclear whether NIPT should be regarded as a “test” or “screen.” Some writings on NIPT have been explicitly clear, referring to NIPT as “an advanced screen.”[7] However, according to the WHO, “A screening test is not intended to be diagnostic.”[8] The need for follow-up diagnostic testing is continually stressed in many of the scientific journal articles that provide information and reviews for NIPT.[9]
Moreover, the test is not necessarily performed in conversation with someone knowledgeable in the test’s range or accuracy nor an understanding of the disabilities that may be detected. Due to false negatives, a 2017 article stated the need to “improve its sensitivity and specificity” as well as the necessity “that patients receive pretest counseling and informed consent prior to NIPT screening.”[10] However, there does not appear to be an explicit requirement for any pre-test or post-test counseling in order to have NIPT performed—especially with examples like MaterniT21 advertising NIPT directly to potential patients as a “direct-to-consumer” test.[11] Thus, there is risk of making life and death decisions with little knowledgeable input. This is all the more a possibility as “people tend to overestimate the usefulness of genetic tests, and misinterpret their meaning.”[12]
Further Ethical Considerations
In order to view prenatal testing objectively, it is important to address what it really is and what it actually accomplishes. Perhaps the most important distinction to make is between the prenatal testing (or screening) that seeks to identify (1) conditions for which there is a therapeutic intervention and (2) those for which there is no fix or cure. Regarding the first, testing is performed with the aim of benefiting the mother and the fetus.[13] Therapeutic interventions serve both patients well and represent positive application of prenatal testing without troubling ethical considerations.
Situations that fit the second category lead to the adoption of a more singular focus on the mother as patient and seeks to aid in “pregnancy management.”[14] As the mother is the one seeking the test, she is regarded as the patient/customer and thus granted priority with the intention of all future decisions being to her benefit.[15] When prenatal testing extends beyond identifying curable conditions, it enters troubling ethical waters.
Indeed, perhaps the strongest caution regarding NIPT lies in the reality that it seeks out conditions for which there is no cure. What is the purpose of such testing when few, if any, treatment options exist? A 2016 study showed that the majority of mothers who utilized NIPT did so primarily out of “worry about the baby’s health” and secondarily because of “the urge to have as much information as possible about the fetus.”[16]
Though the thought is to alleviate stress by knowing your baby’s condition, prenatal testing has actually been shown to be the cause of stress.[17] Maternal stress is known to be detrimental to the mother and to the development of the fetus.[18] From his experience, neonatologist John Wyatt writes that receiving negative results from fetal screening does not settle the parents but actually increases their anxiety and distress.[19] Truly, even broaching the subject of fetal abnormalities or defects raises fears and anxieties within expectant parents.[20] When delving into the realms of genetic prediction, the words of Solomon ring true: “For in much wisdom is much grief, and he who increases knowledge increases sorrow” (Eccl 1:18, NKJV).
Another question has to do with whether parents properly attach to their unborn child if they are waiting for an “all clear” from the test.[21] Some critics of prenatal testing argue that “genetic knowledge creates the ‘illusion of choice’ and makes all pregnancies tentative.”[22] To this point, Megan Best rightly asks “whether there is any point in having tests to identify problems that can only be managed by termination.”[23]
Is the solution then to have prenatal testing performed and hope that the outcomes are encouraging? But what if the results are not positive? As one publication puts it: “Because few cures exist for many prenatally diagnosable diseases, it is impossible to separate genetic testing from the issue of abortion.”[24] Though genetic testing is generally routine, this abortion link may cause it to become a morally-charged endeavor.[25]
The abortion controversy grows as a pregnancy progresses, with earlier termination considered preferable for the mother as well as for the sensitivities of society.[26] Among the selling points of NIPT is the potential for it to be used as early as ten weeks.[27] One article went so far as to say: “The aim of prenatal diagnostic testing” is to identify mutations and “offer termination at a relatively early stage of pregnancy.”[28] Another article plainly stated, “Articles on NIPT in medical and science journals presume abortion rates will increase.”[29] This places pressure upon the mother, who may be keenly aware of society’s prejudiced expectation to “not knowingly give birth to a handicapped child.”[30]
When prenatal testing findings become genetic in nature, and when medicine moves from treating both the mother and the unborn child as two distinct patients, the developing life is potentially disregarded, reduced to a condition. The fetus is subject to “pregnancy management,” to be kept or discarded at the mother’s discretion.[31] I have experienced this first-hand: the idea of “choice” was indicated in the initial prenatal doctor’s appointment by the phrase “your pregnancy.” When it became clear that the pregnancy was desired, the terminology shifted to “your baby.”
Even if there were agreement on the efficacy and proper delineation of NIPT, the fundamental point of contention is found in the underlying, even if only implicit, assumptions regarding such a test. That is, “through prenatal testing, we may choose the kinds of children we don’t want to bring into the world.”[32] In his aptly titled War Against the Weak, Edwin Black addresses the eugenic nature of genetic scientists in their “systematic effort to eliminate certain genetically unfit strains,” stating: “Few if any are aware that in their noble battle against the mysteries and challenges of human heredity, they have inherited the spoils of the war against the weak.”[33]
When a prenatal test detects a disability, it is often regarded as an accepted application of abortion. Whereas NIPT unabashedly targets the unborn with chromosomal abnormalities, moral language is interjected regarding the fear of “improper” or “misuse” of genetic information for sex selection.[34] The authors of one study state that the best way to avoid such a result is to avoid the generation of that data.[35] In order to be fair and not operate according to bias or stigma, the same deference must be given to disability that is given to sex. As it is unjust to reduce an individual to his or her sex and discriminate based upon that characteristic, it is likewise unjust to reduce an individual to the single characteristic of his or her disability.[36]
The reality is that prenatal testing is the most direct cause of eliminating disabled populations. Because of the prevalence of prenatal testing, the occurrence of genetic anomalies has “significantly reduced the incidence of these diseases by reducing the live births of children affected by them.”[37] Such use of prenatal testing is thus ethically questionable and needs to be curbed.[38] Just as sex-selected abortion confers greater value upon one sex over another and extends a discriminating attitude to those outside the womb, so too aborting due to disability communicates a diminished worth of individuals living with disability and can encourage discrimination against them.[39]
The reality of living under the “devalued label of disability” is felt by those with disability and, while their disability is not the summation of their person, it also cannot be viewed as some detached aspect.[40] In much of the literature, NIPT is commonly referred to as Down syndrome testing or screening, so there is no confusion who the targeted individuals are.[41] It would be difficult to conceive that a test to help ensure that one does not have a child with Down syndrome would be regarded as other than communicating a negative view of this disability—regardless of whether it is a fetus or an adult living with Down syndrome.[42]
Conclusion
This article calls for a discerning look at prenatal genetic testing. It is imperative for the church, especially pastors and Christian leaders, to engage critically and provide a biblically and theologically adequate response to prenatal testing. As a general rule, a robustly Christian ethic must acknowledge, value, and therefore protect human life from its earliest point, as well as resist bias toward eliminating potentially disabled or unwanted children.[43] Perhaps not all kinds of prenatal testing, as mentioned previously, are always intended to “play God” through picking and choosing only “perfect” fetuses. We would do well, however, to consider our ways wisely in navigating such complex ethical waters.
References
[1] Antina de Jong, Idit Maya, and Jan M. M. van Lith, “Prenatal Screening: Current Practice, New Developments, Ethical Challenges,” Bioethics 29, no. 1 (2015): https://doi.org/10.1111/bioe.12123; Rong Qiang et al., “Detection of Trisomies 13, 18 and 21 Using Non-Invasive Prenatal Testing,” Experimental and Therapeutic Medicine 13, no. 5 (2017): 2304, https://doi.org/10.3892/etm.2017.4272.
[2] Sahlin et al., “Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women,” PLoS One 11, no. 5 (2016): https://doi.org/10.1371/journal.pone.0156088. For a brief definition of NIPT, see “What is Noninvasive Prenatal Testing (NIPT) and What Disorders Can It Screen for,” MedlinePlus, accessed May 5, 2021, https://medlineplus.gov/genetics/understanding/testing/nipt/.
[3] Sahlin et al., “Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women,” 8.
[4] Nancy Press and C. H. Browner, “Why Women Say Yes to Prenatal Diagnosis,” Social Science & Medicine 45, no. 7 (1997): https://doi.org/10.1016/S0277-9536(97)00011-7.
[5] Dondorp et al., “Non-Invasive Prenatal Testing for Aneuploidy and Beyond: Challenges of Responsible Innovation in Prenatal Screening,” European Journal of Human Genetics 23, no. 11 (2015): 1442, https://doi.org/10.1038/ejhg.2015.57.
[6] Louise D. Bryant, “Non-Invasive Prenatal Testing for Down’s Syndrome,” eLS (2017): https://doi.org/10.1002/9780470015902.a0027187.
[7] Diana W. Bianchi and Louise Wilkins-Haug, “Integration of Noninvasive DNA Testing for Aneuploidy into Prenatal Care: What Has Happened Since the Rubber Met the Road?” Clinical Chemisty 60, no. 1 (2014): 1, https://doi.org/10.1373/clinchem.2013.202663.
[8] “Principles and Practice of Screening a Disease,” World Health Organization, accessed May 5, 2021, https://www.who.int/ionizing_radiation/medical_radiation_exposure/munich-WHO-1968-Screening-Disease.pdf.
[9] In a personal conversation at the 2018 CBHD conference, one doctor explained his decision to avoid the test/screen confusion by referring to NIPT as NIPS because a “screen” is more understood to be on a spectrum where a “test” is thought to be more definitive.
[10] Jiexia Yang et al., “A Case of Placental Trisomy 18 Mosaicism Causing a False Negative NIPT Result,” Molecular Genetics 10, no. 40 (2017): 3, https://doi.org/10.1186/s13039-017-0341-5.
[11] Dondorp et al., “Non-Invasive Prenatal Testing for Aneuploidy and Beyond,” 1446; Rachel Rebouché, “Non-Invasive Testing, Non-Invasive Counseling,” The Journal of Law, Medicine & Ethics 43, no. 2 (2015): 228, https://doi.org/10.1111/jlme.12237; “MaterniT21 Plus,” Safembryo,” accessed August 21, 2020, http://www.safembryo.com/maternit21-plus-3/?lang=en.
[12] Taylor-Phillips et al., “Accuracy of Non-Invasive Prenatal Testing Using Cell-Free DNA for Detection of Down, Edwards and Patau Syndromes,” BMJ Open 6, no. 1 (2016): 1, http://dx.doi.org/10.1136/bmjopen-2015-010002.
[13] Megan Best, Fearfully and Wonderfully Made: Ethics and the Beginning of Human Life (Kingsford, NSW, Australia: Matthias Media, 2012), 202.
[14] Baran Bayindir et al., “Noninvasive Prenatal Testing Using a Novel Analysis Pipeline to Screen for All Autosomal Fetal Aneuploidies Improves Pregnancy Management,” European Journal of Human Genetics 23, no. 10 (2015): 1286–1293, https://doi.org/10.1038/ejhg.2014.282.
[15] Mary T. White, “The Many Facets of Genetic Testing,” in A Christian Response to the New Genetics: Religious, Ethical, and Social Issues, eds. David H. Smith and Cynthia B. Cohen (Lanham, MD: Rowman and Littlefield, 2003), 29.
[16] Sahlin et al., “Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women,” PLoS One 11, no. 5 (2016): 1, https://doi.org/10.1371/journal.pone.0156088.
[17] Bryant, “Non-Invasive Prenatal Testing for Down’s Syndrome,” 2.
[18] Vivette Glover and Thomas O’Connor, “Maternal Anxiety: Its Effect on the Fetus and the Child,” British Journal of Midwifery 14, no. 11 (2006): 663, https://doi.org/10.12968/bjom.2006.14.11.22255.
[19] John Wyatt, Matters of Life and Death: Human Dilemmas in the Light of Christian Faith, rev. ed. (Nottingham, UK: InterVarsity Press, 2009), 174.
[20] Cécile Muller and Linda D. Cameron, “It’s Complicated – Factors Predicting Decisional Conflict in Prenatal Diagnostic Testing,” Health Expectations 19, no. 2 (2016): 391, https://doi.org/10.1111/hex.12363.
[21] Best, Fearfully and Wonderfully Made, 227.
[22] Evangelical Lutheran Church in America, Genetics! Where Do We Stand as Christians? (Chicago: Department for Studies of the Division for Church in Society, 2001), 27, http://download.elca.org/ELCA%20Resource%20Repository/Genetics_Christians.pdf.
[23] Best, Fearfully and Wonderfully Made, 202.
[24] Evangelical Lutheran Church in America, Genetics! 28.
[25] Dondorp et al., “Non-Invasive Prenatal Testing for Aneuploidy and Beyond: Challenges of Responsible Innovation in Prenatal Screening,” 1440.
[26] Rachel Rebouché, “Non-Invasive Testing, Non-Invasive Counseling,” The Journal of Law, Medicine & Ethics 43, no. 2 (2015): 229, https://doi.org/10.1111/jlme.12237; Louise D. Bryant, “Non-Invasive Prenatal Testing for Down’s Syndrome,” eLS (2017): 1–2, https://doi.org/10.1002/9780470015902.a0027187; Natascia Brondino et al., “Psychological Correlates of Decision-Making During Prenatal Diagnosis: A Prospective Study,” Journal of Psychosomatic Obstetrics & Gynecology 34, no. 2 (2013): 68, https://doi.org/10.3109/0167482X.2013.797404.
[27] Bryant, “Non-Invasive Prenatal Testing for Down’s Syndrome,” 1.
[28] Victoria Nesbitt et al., “A National Perspective on Prenatal Testing for Mitochondrial Disease,” European Journal of Human Genetics 22, no. 11 (2014): 1257, https://doi.org/10.1038/ejhg.2014.35.
[29] Rebouché, “Non-Invasive Testing, Non-Invasive Counseling,” 228.
[30] Joni Eareckson Tada and Nigel M. de S. Cameron, How to Be a Christian in a Brave New World (Grand Rapids, MI: Zondervan, 2006), 90.
[31] Baran Bayindir et al., “Noninvasive Prenatal Testing Using a Novel Analysis Pipeline to Screen for All Autosomal Fetal Aneuploidies Improves Pregnancy Management,” 1286.
[32] White, “The Many Facets of Genetic Testing,” 27 (emphasis original).
[33] Edwin Black, War against the Weak: Eugenics and America's Campaign to Create a Master Race (New York: Four Walls Eight Windows, 2003), 421, 426.
[34] Dondorp et al., “Non-Invasive Prenatal Testing for Aneuploidy and Beyond,” 1443.
[35] Dondorp et al., “Non-Invasive Prenatal Testing for Aneuploidy and Beyond,” 1443.
[36] Chris Kaposy, “A Disability Critique of the New Prenatal Test for Down Syndrome,” Kennedy Institute of Ethics Journal 23, no. 4 (2013), 306, https://www.doi.org/10.1353/ken.2013.0017.
[37] Tada and Cameron, How to Be a Christian in a Brave New World, 97.
[38] Erik Parens and Adrienne Asch, Prenatal Testing and Disability Rights (Washington, D.C.: Georgetown University Press, 2000), 118.
[39] Roger A. Willer, Genetic Testing & Screening: Critical Engagement at the Intersection of Faith and Science (Minneapolis, MN: Kirk House, 1998), 125.
[40] Barbara Barter, Richard Patrick Hastings, Rebecca Williams, and Jaci C. Huws, “Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome,” Journal of Applied Research in Intellectual Disabilities 30, no. 2 (2017): 399, https://doi.org/10.1111/jar.12256.
[41] Rong Qiang et al., “Detection of Trisomies 13, 18 and 21 Using Non-Invasive Prenatal Testing,” 2304; Jane Woolcock and Rosalie Grivell, “Noninvasive Prenatal Testing,” Australian Family Physician 43, no. 7 (2014): 433, https://www.racgp.org.au/afp/2014/july/noninvasive-prenatal-testing/; Allan Caine et al., “Prenatal Detection of Down’s Syndrome by Rapid Aneuploidy Testing for Chromosomes 13, 18, and 21 by FISH or PCR without a Full Karyotype: A Cytogenic Risk Assessment,” Lancet 366, no. 9480 (2005), 213–17, https://www.doi.org/10.1016/S0140-6736(05)66790-6.
[42] De Jong, et al., “Prenatal Screening,” 7.
[43] See e.g., John F. Kilner, Dignity and Destiny: Humanity in the Image of God (Grand Rapids: Eerdmans, 2015), including various resources on human dignity at https://cbhd.org/category/issues/human-dignity.