Genetics and abortion

The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing.[1] Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.[1]

## Terminology[edit]

Genetic abnormalities can be detected at various stages of pregnancy. Preimplantation refers to the state of existing or occurring between the fertilization of an ovum and its implementation in the wall of the uterus.[2] Preimplantation genetic diagnosis is when one or both parents have a known genetic abnormality and testing is done on an embryo to determine if it also carries the genetic abnormality. Preimplantation is an IVF-specific practice. IVF, or in vitro fertilisation, is when mature eggs are collected from ovaries and fertilized by sperm in a lab and then transferred to a uterus.[3] Preimplantation genetic testing tests IVF embryos before pregnancy and Preimplantation genetic screening screens non-IVF embryos for aneuploidy. Aneuploidy is a chromosome mutation in which the number of chromosomes is abnormal and differs from the usual 46 chromosomes.[4]

Embryo selection is very similar to preimplantation in which embryos are tested or diagnosed, but embryo selection involves the act of selecting an embryo which does not have any abnormalities to be later implanted into the wall of the uterus to initiate pregnancy. Embryo screening prevents the implantation of embryos that would be carrying chromosomal abnormalities that are likely to cause a pregnancy to abort.[5]

Preimplantation and embryo selection require medical professionals to test chromosomal and genetic defects in the embryo to see if the embryo will be viable when implanted in the uterus.[6]

There are also methods of prenatal genetic screening that can be employed after conception, regardless of whether IVF was used. These types of screenings are classified into two groups: invasive prenatal screening and non-invasive prenatal screening.

Invasive techniques involve the insertion of a needle or probe into the uterus for sample collection. Common invasive tests are amniocentesis, the screening of amniotic fluid from the uterus, and chorionic villus sampling, which involves testing fluid from the chorionic villi lining the uterine wall. These procedures pose a higher risk for the mother and child, but are sometimes necessary.[7]

Non-invasive techniques do not involve puncturing of the uterus, and are much safer for the mother and child. Common examples of non-invasive testing are ultrasound and cell-free placental DNA tests, which was developed and implemented in the United States and Western Europe in late 2011.[8] For genetic screening, the latter is most commonly used. Cell-free placental DNA testing is also known as NIPS or NIPT (non-invasive prenatal screening/testing), and involves testing of maternal blood via venipuncture, where placental blood is present. Certain genetic aberrations can be detected through this process, including Down syndrome and other aneuploidies.[9]

## Legality of selective abortion[edit]

Further information: Abortion law

In many countries abortion is available upon request up to a certain point in the pregnancy, not taking into account why the mother wants the abortion, but in a small number of countries all abortions are prohibited, including for those pregnancies that risk the mother's life, including Vatican City, El Salvador, Chile and Malta. Countries may also restrict abortion even if the baby has a genetic defect. Countries that allow abortion if the mother is at risk but do not allow abortion if the fetus has a genetic defect include Iran, Ireland, Mexico, and the Dominican Republic.[10]

Not all genetic markers which can be checked are for disease, leaving open the possibility that parents may choose an abortion based on personal preference rather than avoidance of disease. In some jurisdictions, sex-selective abortion is specifically prohibited. Some anti-abortion activists are concerned that genetic testing will give women excuses to get abortions. It is believed that eventually genetic testing will be able to provide a wealth of knowledge on the future health of the child.[11]

## Genetic testing[edit]

Screening for Down syndrome is offered as a routine part of prenatal care in some countries. The American Congress of Obstetricians and Gynecologists recommends offering various screening tests for Down syndrome to all pregnant women, regardless of age. Genetic testing, however, is not completely accurate, but it can help to determine if further tests should be administered or if there should be concern. Testing for Down Syndrome can be conducted at different times of the pregnancy. Most women choose to do so in the first trimester, which is done in two parts at the 11th and 13th week of pregnancy. These tests include an ultrasound to measure a certain area on the back of the fetus's neck. An excess of fluid in this area could indicate a medical issue with the fetus. The second part of the test is a blood test which looks for abnormal levels of PAPP-A and bHCG, which may indicate a problem with the fetus.[12]

### Effect on births[edit]

Since the development of non-invasive prenatal testing (NIPT), multiple studies have investigated whether the number of those born with Down syndrome has been affected. One 2020 European study found that NIPT reduced the number of babies being born per year with Down syndrome (DS) by an average of 54%. In 2016, the same research team found that 33% fewer babies were born with Down syndrome per year in the United States as a result of disability selective abortions.[13]

Statistics today conclude that 90 percent of fetuses that are diagnosed with Down syndrome via fetal genetic testing are aborted. However, only 2-3 percent of women agree to completing genetic testing, CVS or amniocentesis, the current tests for chromosomal abnormalities. When taking this into account, it is believed that approximately 50 percent of fetuses with Down Syndrome are aborted.[14]

One notable case is that of Denmark, where prenatal testing has been widely adopted and disability selective abortion is common. In 2004, Denmark became one of the first countries in the world to offer prenatal screening for Down syndrome to any woman who requests it. Almost all women choose to have this screening, and of those who do and receive a positive diagnosis, 95% percent choose to abort. Since nation-wide testing was first offered, the number of babies born to parents who chose to continue a pregnancy after a prenatal diagnosis of Down syndrome in Denmark has fluctuated from zero to 13 per year.[15]

### Response by advocates[edit]

Fetuses with Down syndrome are disproportionately affected by genetic pre-screening, as current statistics indicate that 50% of fetuses with Down syndrome are aborted.[16] Down Syndrome activists have responded to this disparity by testifying to Congress and raising awareness regarding links between Down Syndrome and Alzheimer's research.

Actor and Special Olympian Frank Stephens is one of the most prominent Down syndrome advocates. He has testified before Congress to argue for appropriating funds to support research that would benefit individuals diagnosed with the disease. The primary organization he promotes in his work is The Global Down Syndrome Foundation. Its work centers on addressing research on conditions that disproportionately affect people with Down Syndrome, including congenital heart conditions, sleep apnea, and Alzheimer's disease.[17]

Approximately 50% of the Down syndrome population will develop Alzheimer's in their later years. Alzheimer's disease is characterized by the buildup of amyloid precursor protein and subsequent beta-amyloid plaques in the brain. Although most individuals with Down syndrome have these plaques by age 40, not all people with Down syndrome develop disease. Therefore, the Down syndrome population offers a unique quality to researchers to investigate why some individuals with Down syndrome develop Alzheimer's and others do not.[18]

Above all, Down syndrome advocates want parents to make an informed choice before terminating a Down syndrome pregnancy. In other words, rather than promoting a "pro-life" or "pro-choice" stance, these advocates encourage people to adopt a "pro-information" stance. These proponents believe that a Down syndrome diagnosis should be the start of learning about life with Down syndrome and promote more balanced, positive education about Down syndrome in clinics.[19]

## Proponents of disability-selective abortion[edit]

Support for disability-selective abortions stems partially from arguments that those born with disabilities have a quality of life that is reduced to the extent that non-existence is preferable, and terminating the pregnancy is actually for the sake of the fetus.[20] Some argue that abortion of fetuses with disabilities is moral in that it prevents the child or parents from suffering, and that the decision to abort is not made lightly. One such example comes from the utilitarian perspective of Peter Singer who argues that abortion of healthy fetuses is not justified, but that disability-selective abortions are justified if the total amount of happiness will be greater by doing so.[21] His justification for such line of thinking comes not only from the quality of life for the child, but also the suffering of the parents and lack of willing adoptive parents for children with disabilities.[21]

Many feminists and reproductive rights activists also oppose selective abortion bans. When describing their oppositions, these activists usually do not say they favor selective abortions in and of themselves, but oppose selective-abortion bans because these laws conflict with reproductive rights.[citation needed]

Feminist arguments on the topic largely oppose viewing disability selective abortions as a moral failure, but rather as a means for livelihood. Many argue that the motivation to terminate a pregnancy stems not from a lack of perspective on what the quality of life for someone with a disability can be, but rather from the additional time, stress, and money necessary to raise a child with a disability, or for reasons entirely unrelated to disability.[22] In a feminist scholarly article[22] Claire McKinney quotes a 1999 study, finding that 76% of surveyed mothers who did not have a child with Down syndrome were employed, compared to 56% of those who did.[23] A separate 2008 study found that families living below the poverty line with children who have disabilities are "more likely to experience material deprivation, such as food insecurity, housing instability, lack of health care access, and telephone disconnection" than are families living below the poverty line without children with disabilities.[24] The prevalent feminist argument is that reproductive rights and right to unhindered abortion are essential in disability-selective abortions for the same reasons that they are essential in any abortion: no woman should be forced into a situation that may have severe financial, mental, or professional impact on her.[citation needed]

Reproductive rights activists say that selective-abortion bans do not serve to save people with disabilities but instead, seek to incrementally restrict abortion.[25] Incremental restrictions on abortion take the form of legislation that codify specific rules limiting access to abortion without outright violating the Supreme Court ruling in Planned Parenthood v. Casey (1992).[26] In that case, the courts ruled that states cannot place an "undue burden" on the right to abortion before fetal viability.[27] Accordingly, anti-abortion groups advocate for laws like perinatal hospice laws, which mandate the provision of fetal life-sustaining resources for people with fatal pregnancies.[25] Measures like perinatal hospital laws materially impact the accessibility of abortion without outright banning the procedure and thus often avoid being classified as "undue burdens" on abortion before viability. Groups like Americans United for Life have been very successful in making abortion more difficult to access through the incremental approach.[28] Therefore, reproductive rights activists are wary of incremental abortion bans and see selective abortion bans as such.[25]

The argument that selective abortion bans are more geared toward limiting access to abortion than helping disabled people is bolstered by the fact that disability does not appear to be a driving factor for abortion in the United States. The majority of respondents in a survey said that they sought an abortion either because they could not afford a baby, were not in a relationship with someone with whom they felt comfortable co-parenting, or because they were done having children.[29] The financial motivations of abortion are also demonstrated in the fact that 75% of abortion patients in 2014 were poor (having an income below the federal poverty level of $15,730 for a family of two in 2014) or low-income (having an income of 100–199% of the federal poverty level).[30] Also, the majority of genetic testing cannot be done before twelve or fifteen weeks of gestation, meaning that abortions in response to disability would primarily occur well into the second trimester of pregnancy.[31] In 2016, over 65% of American abortions occurred before eight weeks gestation, 80% occurred before ten weeks, and nearly 90% occurred before twelve weeks.[30] In contrast, a little more than 5% occurred after sixteen weeks.[30] This evidence suggests that the vast majority of abortions in the United States occur before someone could know whether the fetus they carry has a genetic condition. Given this evidence, reproductive rights advocates assert that selective abortion bans seek to attack the act of abortion, rather than the act of ending a disabled life.[citation needed]

## Opposition to disability-selective abortion[edit]

Several different arguments lie at the heart of opposition to disability-selective abortions. Those against disability-selective abortions often quote the right to life of all fetuses. Further arguments include that such abortions are based on misinformation or stereotypes about the lives of people with disabilities.[20] Others consider abortion of fetuses with disabilities a form of discrimination, arguing that abortion after a positive diagnosis sends the message that a life with disability is not worth living.[32] Disability and feminist activists warn against the eugenic possibilities of disability-selective abortions for the disabled community. Reproductive rights activists not only fight for women's right to abortion, but also for their right to choose not to use prenatal testing. A notable pro-choice supporter who condemned disability-selective abortion was Adrienne Asch, who believed that perceived problems associated with disability were not attributable to the disability itself but an absence of social support and acceptance.[33]

* The European Blind Union has stated its opposition to compulsory abortion for genetic indications in its manifesto: "the right to life shall include the prohibition of compulsory abortion at the instance of the State, based on the pre-natal diagnosis of disability".[34]
* According to an article in Disability Studies Quarterly, the disability rights movement in Germany has disapproved of abortion in cases in which the fetus is found to have a congenital defect. This issue for the German disability-rights movement has continuity going back to the early eugenics movement, through to the Nazi era, when Nazi eugenic practices became a concern, and on into the present.[35]
* A report given to the NSW Anti-Discrimination Board and NSW Law Reform Commission by the AIS Support Group of Australia (AISSGA) reviewed the Australian incidence of abortion in cases when the fetus was diagnosed with an intersex condition. Between 1983 and 1998, the Victorian Department of Human Services reported that 98 out of 213 fetuses detected to have Turner syndrome had been aborted, 28 out of 77 found to have Klinefelter syndrome, and 39 out of 189 fetuses with sex chromosome anomalies had been aborted. The AISSGA proposed that parents expecting a baby with sex chromosome anomalies be advised by a genetic counselor, and be given contact with support groups for people with these conditions, so as to gain a better understanding of the actual effects of the conditions.[36]

## See also[edit]

* Eugenics
* Fetal rights
* Genetic counselling

## References[edit]

1. ^ a b Lawson KL (February 2006). "Expectations of the parenting experience and willingness to consider selective termination for Down syndrome". Journal of Reproductive and Infant Psychology. 24 (1): 43–59. doi:10.1080/02646830500475351. S2CID 145129295.
2. ^ "Preimplantation". Lexico. Archived from the original on April 7, 2020. Retrieved May 15, 2020.
3. ^ "In vitro fertilization (IVF)". Mayo Clinic. Retrieved May 15, 2020.
4. ^ Griffiths A. "Aneuploidy". An Introduction to Genetic Analysis (7th ed.). National Center for Biotechnology Information. Retrieved May 15, 2020.
5. ^ "Fertility Testing- Embryo Screening". Reproductive Medicine Associates of Connecticut. Retrieved May 15, 2020.
6. ^ Stern HJ (March 2014). "Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential". Journal of Clinical Medicine. 3 (1): 280–309. doi:10.3390/jcm3010280. PMC 4449675. PMID 26237262.
7. ^ Alfirevic Z, Navaratnam K, Mujezinovic F (September 4, 2017). "Amniocentesis and chorionic villus sampling for prenatal diagnosis". The Cochrane Database of Systematic Reviews. 2017 (9): CD003252. doi:10.1002/14651858.CD003252.pub2. PMC 6483702. PMID 28869276.
8. ^ Chandrasekharan S, Minear MA, Hung A, Allyse M (April 2014). "Noninvasive prenatal testing goes global". Science Translational Medicine. 6 (231): 231fs15. doi:10.1126/scitranslmed.3008704. PMC 4112725. PMID 24718856.
9. ^ Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. (November 2011). "DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study". Genetics in Medicine. 13 (11): 913–920. doi:10.1097/gim.0b013e3182368a0e. PMID 22005709. S2CID 24761833.
10. ^ Berer M (June 2017). "Abortion Law and Policy Around the World: In Search of Decriminalization". Health and Human Rights. 19 (1): 13–27. PMC 5473035. PMID 28630538.
11. ^ Adams S. "Unborn babies could be tested for 3,500 genetic faults". Telegraph. Archived from the original on 2012-06-08. Retrieved 2016-09-30.
12. ^ "Down syndrome". Mayo Clinic. 2014-04-19. Retrieved 2016-09-30.
13. ^ de Graaf G, Buckley F, Skotko BG (March 2021). "Estimation of the number of people with Down syndrome in Europe". European Journal of Human Genetics. 29 (3): 402–410. doi:10.1038/s41431-020-00748-y. PMC 7940428. PMID 33130823.
14. ^ "Down syndrome, prenatal testing, and abortion–it's complicated". Patheos.com. 2012-06-10. Retrieved 2016-09-30.
15. ^ Zhang S (2020-11-18). "The Last Children of Down Syndrome". The Atlantic. Retrieved 2021-12-07.
16. ^ Becker J (10 June 2012). "Down syndrome, prenatal testing, and abortion-it's complicated". Thin Places-Faith, Family and Disability. Retrieved 2020-04-06.
17. ^ "Why is Research for People with Down Syndrome Important?". Global Down Syndrome Foundation. 2012-02-17. Retrieved 2020-05-03.
18. ^ "Alzheimer's Disease in People with Down Syndrome". National Institute on Aging. Retrieved 2020-04-06.
19. ^ Graham R (2018-05-31). "How Down Syndrome Is Redefining the Abortion Debate". Slate Magazine. Retrieved 2020-04-06.
20. ^ a b Vehmas S (February 2002). "Is it wrong to deliberately conceive or give birth to a child with mental retardation?". The Journal of Medicine and Philosophy. 27 (1): 47–63. doi:10.1076/jmep.27.1.47.2974. PMID 11961686.
21. ^ a b Stangl R (February 2010). "Selective terminations and respect for the disabled". The Journal of Medicine and Philosophy. 35 (1): 32–45. doi:10.1093/jmp/jhp058. PMID 20034993.
22. ^ a b McKinney C (2016-03-08). "Selective Abortion as Moral Failure? Revaluation of the Feminist Case for Reproductive Rights in a Disability Context". Disability Studies Quarterly. 36 (1). doi:10.18061/dsq.v36i1.3885. ISSN 2159-8371.
23. ^ Roach MA, Orsmond GI, Barratt MS (September 1999). "Mothers and fathers of children with Down syndrome: parental stress and involvement in childcare". American Journal of Mental Retardation. 104 (5): 422–436. doi:10.1352/0895-8017(1999)104<0422:mafocw>2.0.co;2. PMID 10541413.
24. ^ Parish SL, Rose RA, Grinstein-Weiss M, Richman EL, Andrews ME (October 2008). "Material Hardship in U.S. Families Raising Children with Disabilities". Exceptional Children. 75 (1): 71–92. doi:10.1177/001440290807500104. ISSN 0014-4029. S2CID 14916899.
25. ^ a b c Smith SE (2019-05-29). "Disabled people are tired of being a talking point in the abortion debate". Vox. Retrieved 2020-03-04.
26. ^ Eckholm E (2013-10-09). "With New Abortion Restrictions, Ohio Walks a Narrow Legal Line". The New York Times. ISSN 0362-4331. Retrieved 2020-04-22.
27. ^ "Planned Parenthood of Southeastern Pennsylvania v. Casey". Retrieved 2020-03-18.
28. ^ "About". Americans United for Life. 2018-02-03. Retrieved 2020-04-22.
29. ^ Finer, Lawrence B.; Frohwirth, Lori F.; Dauphinee, Lindsay A.; Singh, Susheela; Moore, Ann M. (2005-09-06). "Reasons U.S. Women Have Abortions: Quantitative and Qualitative Perspectives". Perspectives on Sexual and Reproductive Health. 37 (3): 110–118. doi:10.1363/3711005 (inactive 2024-02-15). PMID 16150658. Retrieved 2020-03-04.`{{cite journal}}`: CS1 maint: DOI inactive as of February 2024 (link)
30. ^ a b c Jones RK, Jerman J (March 2017). "Abortion Incidence and Service Availability In the United States, 2014". Perspectives on Sexual and Reproductive Health. 49 (1): 17–27. doi:10.1363/2019.30760. PMC 5487028. PMID 28094905. S2CID 203813573.
31. ^ "Prenatal Genetic Screening Tests". www.acog.org. Retrieved 2020-04-22.
32. ^ Batzli K (2010). "The Expressivity of Prenatal Testing and Selective Abortion for Disability". Penn Bioethics Journal. 6 (1): 21–24.
33. ^ Asch A (November 1999). "Prenatal diagnosis and selective abortion: a challenge to practice and policy". American Journal of Public Health. 89 (11): 1649–57. doi:10.2105/ajph.89.11.1649. PMC 1508970. PMID 10553384.
34. ^ "European Disability Forum Consultation on International Convention on the Protection and Promotion of the Rights and Dignity of Persons with Disabilities". European Blind Union. 26 February 2004. Archived from the original on 8 April 2007. Retrieved 13 March 2007.
35. ^ Köbsell S (March 2006). "Towards self-determination and equalization: A short history of the German Disability Rights Movement" (PDF). Disability Studies Quarterly. 26 (2). doi:10.18061/dsq.v26i2.692. Archived from the original (PDF) on 2007-06-10.
36. ^ Briffa A (2003). "Submission to the NSW Anti-Discrimination Board and NSW Law Reform Commission Regarding Discrimination against People affected by Intersex Conditions" (PDF). Home.vicnet.net.au. Archived from the original (PDF) on 6 September 2006. Retrieved 13 March 2007.

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