Genetics and abortion

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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]

Contents

Terminology

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 fertilization, 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

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

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

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

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

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

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 the abortion of fetuses with disabilities a form of discrimination, arguing that abortion after a positive diagnosis sends the message that a life with a 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]

See also

Related Research Articles

<span class="mw-page-title-main">Down syndrome</span> Genetic disorder

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.

<span class="mw-page-title-main">In vitro fertilisation</span> Assisted reproductive technology procedure

In vitro fertilisation (IVF) is a process of fertilisation where an egg is combined with sperm in vitro. The process involves monitoring and stimulating a woman's ovulatory process, removing an ovum or ova from their ovaries and letting a man's sperm fertilise them in a culture medium in a laboratory. After the fertilised egg (zygote) undergoes embryo culture for 2–6 days, it is transferred by catheter into the uterus, with the intention of establishing a successful pregnancy.

<span class="mw-page-title-main">Amniocentesis</span> Sampling of amniotic fluid done mainly to detect fetal chromosomal abnormalities

Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.

<span class="mw-page-title-main">Nondisjunction</span> Failure to separate properly during cell division

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate properly during cell division (mitosis/meiosis). There are three forms of nondisjunction: failure of a pair of homologous chromosomes to separate in meiosis I, failure of sister chromatids to separate during meiosis II, and failure of sister chromatids to separate during mitosis. Nondisjunction results in daughter cells with abnormal chromosome numbers (aneuploidy).

<span class="mw-page-title-main">Preimplantation genetic diagnosis</span> Genetic profiling of embryos prior to implantation

Preimplantation genetic diagnosis is the genetic profiling of embryos prior to implantation, and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration. PGD thus is an adjunct to assisted reproductive technology, and requires in vitro fertilization (IVF) to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy. The latter technique has proved to be less deleterious for the embryo, therefore it is advisable to perform the biopsy around day 5 or 6 of development.

<span class="mw-page-title-main">Prenatal testing</span> Testing for diseases or conditions in a fetus

Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. These may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus, either before gestation even starts or as early in gestation as practicable. Screening can detect problems such as neural tube defects, chromosome abnormalities, and gene mutations that would lead to genetic disorders and birth defects, such as spina bifida, cleft palate, Down syndrome, trisomy 18, Tay–Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis, muscular dystrophy, and fragile X syndrome. Some tests are designed to discover problems which primarily affect the health of the mother, such as PAPP-A to detect pre-eclampsia or glucose tolerance tests to diagnose gestational diabetes. Screening can also detect anatomical defects such as hydrocephalus, anencephaly, heart defects, and amniotic band syndrome.

<span class="mw-page-title-main">Chorionic villus sampling</span> Type of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus

Chorionic villus sampling (CVS), sometimes called "chorionic villous sampling", is a form of prenatal diagnosis done to determine chromosomal or genetic disorders in the fetus. It entails sampling of the chorionic villus and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. It is the preferred technique before 15 weeks.

Miller–Dieker syndrome, Miller–Dieker lissencephaly syndrome (MDLS), and chromosome 17p13.3 deletion syndrome is a micro deletion syndrome characterized by congenital malformations. Congenital malformations are physical defects detectable in an infant at birth which can involve many different parts of the body including the brain, hearts, lungs, liver, bones, or intestinal tract. MDS is a contiguous gene syndrome – a disorder due to the deletion of multiple gene loci adjacent to one another. The disorder arises from the deletion of part of the small arm of chromosome 17p, leading to partial monosomy. There may be unbalanced translocations, or the presence of a ring chromosome 17.

The triple test, also called triple screen, the Kettering test or the Bart's test, is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities.

Sex selection is the attempt to control the sex of the offspring to achieve a desired sex. It can be accomplished in several ways, both pre- and post-implantation of an embryo, as well as at childbirth. It has been marketed under the title family balancing.

The Pallister–Killian syndrome (PKS), also termed tetrasomy 12p mosaicism or the Pallister mosaic aneuploidy syndrome, is an extremely rare and severe genetic disorder. PKS is due to the presence of an extra and abnormal chromosome termed a small supernumerary marker chromosome (sSMC). sSMCs contain copies of genetic material from parts of virtually any other chromosome and, depending on the genetic material they carry, can cause various genetic disorders and neoplasms. The sSMC in PKS consists of multiple copies of the short arm of chromosome 12. Consequently, the multiple copies of the genetic material in the sSMC plus the two copies of this genetic material in the two normal chromosome 12's are overexpressed and thereby cause the syndrome. Due to a form of genetic mosaicism, however, individuals with PKS differ in the tissue distributions of their sSMC and therefore show different syndrome-related birth defects and disease severities. For example, individuals with the sSMC in their heart tissue are likely to have cardiac structural abnormalities while those without this sSMC localization have a structurally normal heart.

<span class="mw-page-title-main">Nuchal scan</span> Routine ultrasound done between 11 and 14 weeks pregnancy

A nuchal scan or nuchal translucency (NT) scan/procedure is a sonographic prenatal screening scan (ultrasound) to detect chromosomal abnormalities in a fetus, though altered extracellular matrix composition and limited lymphatic drainage can also be detected.

<span class="mw-page-title-main">Yury Verlinsky</span> Russian-American medical researcher (1943–2009)

Yury Verlinsky was a Russian-American medical researcher specializing in embryonic and cellular genetics. He is best known as a pioneer in prenatal diagnosis for detecting genetic and chromosomal disorders six weeks earlier than standard amniocentesis. The founding father of pre-implantation genetic diagnosis (PGD) and embryo analysis prior to in-vitro fertilization (IVF), Verlinsky used his polar body biopsy technique to detect potential birth defects in offspring. It is now accepted worldwide as the standard for the most efficient and effective means of analyzing the chromosomal status of an embryo.

Prenatal sex discernment is the prenatal testing for discerning the sex of a fetus before birth.

Embryo quality is the ability of an embryo to perform successfully in terms of conferring a high pregnancy rate and/or resulting in a healthy person. Embryo profiling is the estimation of embryo quality by qualification and/or quantification of various parameters. Estimations of embryo quality guides the choice in embryo selection in in vitro fertilization.

<span class="mw-page-title-main">L1 syndrome</span> Medical condition

L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). It is also called L1CAM syndrome and CRASH syndrome, an acronym for its primary clinical features: corpus callosum hypoplasia, retardation, adducted thumbs, spasticity, and hydrocephalus.

A termination for medical reasons (TFMR) is an induced abortion motivated by medical indications involving the fetus or mother. In some countries, health risks are the only basis for obtaining a legal abortion. Prenatal screening can allow early diagnosis, and abortion if desired or necessary. Some medical organizations advocate the offer of diagnostic testing by chorionic villi sampling, and amniocentesis to all pregnant women, as a matter of course.

Testing Women, Testing the Fetus by Rayna Rapp is a book, published in 1999, about analysis of the social repercussions of prenatal genetic testing. Rapp combines the data she collected herself with historical context of amniocentesis and genetic counseling to argue that amniocentesis and those abortions following positive test results is a social decision as much as an individual one.

<span class="mw-page-title-main">Genetic diagnosis of intersex</span>

Intersex people are born with natural variations in physical and sex characteristics including those of the chromosomes, gonads, sex hormones, or genitals that, according to the UN Office of the High Commissioner for Human Rights, "do not fit the typical definitions for male or female bodies". Such variations may involve genital ambiguity, and combinations of chromosomal genotype and sexual phenotype other than XY-male and XX-female. Preimplantation genetic diagnosis allows the elimination of embryos and fetuses with intersex traits and thus has an impact on discrimination against intersex people.

<span class="mw-page-title-main">Trisomy X</span> Chromosome disorder in women

Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.

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