Tag: amniocentesis

Bioethics News

Ethical issues in foetal genome sequencing. New level of complexity to medical, family and social decisions resulting from this prenatal diagnosis

Regardless of the legal judgment that abortion deserves in different countries, any action that may induce or facilitate abortion is ethically unacceptable.

In 2012, a technique was developed that enabled the foetal genome to be determined in the first trimester of pregnancy, using a small sample of the mother’s blood (Nature 2012, 487,320-4. Erratum Nature 2012; 489,326). This attractive novel technique has opened up new medical possibilities, but also objective ethical questions. A recent article published in the New England Journal of Medicine (370; 195-197) discussed this topic.

There is no doubt that this new possibility adds a new level of complexity to medical, family and social decisions resulting from prenatal diagnosis.

As discussed in the article, information can be obtained on some foetal medical issues with the usual methods, such as chorionic villus sampling or amniocentesis. With genomic analysis however, information can not only be obtained on possible diseases, but also on types of autosomal recessive diseases (e.g. Tay-Sachs disease), or the risk that the future child will develop a disease such as diabetes or some type of cancer in adulthood, especially breast and ovarian cancer in women. Knowing the risks of future diseases can be used for the good of the foetus, if prenatal treatments can be applied, but also against their life if abortion is favoured.

This therefore raises several ethical questions, such as, “Should foetal genome studies be routinely offered to everyone?” or “Are parents entitled to know their future child’s genetic information?” One criterion that is probably essential to establish the ethicality of these practices, is that they are always used in the best interests of the child.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

Genome sequencing in foetal .This prenatal diagnosis arrises a new level of complexity to medical, family and social decisions

Regardless of the legal judgment that abortion deserves in different countries, any action that may induce or facilitate abortion is ethically unacceptable.

In 2012, a technique was developed that enabled the foetal genome to be determined in the first trimester of pregnancy, using a small sample of the mother’s blood (Nature 2012, 487,320-4. Erratum Nature 2012; 489,326). This attractive novel technique has opened up new medical possibilities, but also objective ethical questions. A recent article published in the New England Journal of Medicine (370; 195-197) discussed this topic.

There is no doubt that this new possibility adds a new level of complexity to medical, family and social decisions resulting from prenatal diagnosis.

As discussed in the article, information can be obtained on some foetal medical issues with the usual methods, such as chorionic villus sampling or amniocentesis. With genomic analysis however, information can not only be obtained on possible diseases, but also on types of autosomal recessive diseases (e.g. Tay-Sachs disease), or the risk that the future child will develop a disease such as diabetes or some type of cancer in adulthood, especially breast and ovarian cancer in women. Knowing the risks of future diseases can be used for the good of the foetus, if prenatal treatments can be applied, but also against their life if abortion is favoured.

This therefore raises several ethical questions, such as, “Should foetal genome studies be routinely offered to everyone?” or “Are parents entitled to know their future child’s genetic information?” One criterion that is probably essential to establish the ethicality of these practices, is that they are always used in the best interests of the child.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

Secrets of Life in a Spoonful of Blood

February 15, 2017

(Nature) – Until now, much of the work has relied on amniotic or placental samples obtained during routine invasive tests such as amniocentesis. But scientists are eyeing the next step: studies that are non-invasive for the fetus and are done on a teaspoonful of blood drawn from a pregnant woman’s arm. In this way, researchers could monitor fetuses as they develop and, down the line, develop non-invasive tests for a broad range of conditions, in both fetus and mother. Physicians are already moving towards treating fetuses in the womb on the basis of such diagnoses. “It’s an exciting time,” says Mark Kilby, a fetal-medicine specialist at the University of Birmingham, UK.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

A CRISPR View of Life

By Shweta Sahu
Image courtesy of Wikimedia Commons

We now live in a society where many are trying to get a leg up where they can, whether it be through pharmacological neuroenhancement (like Ritalin and Adderall) or other neurotechnologies (like transcranial direct current simulation). Technology also allows us to exert an even earlier influence on neurodevelopmental disorders through prenatal genetic testing for fetuses. Such technologies include amniocentesis and chorionic villus sampling, that screen for Down’s, Edwards’ and Patau’s syndromes, and give parents the chance to decide whether they would like to terminate or continue with their pregnancy. One article even claims 53% of all pregnancies were aborted following prenatal diagnoses of Down’s Syndrome, though there is still much dispute over the exact numbers.

More recently, research has turned to looking into how to intervene at even earlier stages with gene editing of embryos. CRISPR (clustered regularly interspaced short palindromic repeats) is a naturally occurring bacterial defense mechanism, that when combined with certain enzymes, like “Cas” (CRISPR associated proteins), enable scientists to manipulate the gene sequence of an organism. CRISPR technology brings to life the idea that we can edit genes by either inserting or cutting out specific DNA sequences. Among the vast, exciting biomedical applications of this CRISPR/ Cas system are some promising leads, such as developing CRISPR based disease models. Diseases like schizophrenia and autism involve many genes and using CRISPR, one lab has been able to recreate the genetic mutations and investigate the “faulty” neurons that play a role in these conditions in animal models more efficiently.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

A World Without Bioethicists? On Sally Phillip’s “A World Without Down’s”

Guest Post by Nathan Emmerich, Queen’s University Belfast

On Wednesday night, BBC2 broadcast a documentary entitled ‘A World Without Down’s Syndrome?’ Even if you did not see the programme itself, you may have heard about it on the radio, read some of the commentary published over the past week, or spotted it on Twitter under the hash tag #worldwithoutDown’s. In my case, it was the presenter Sally Phillips’s appearance on Frank Skinner’s On Demand, that first drew my attention to the programme. There, Phillips talks about Peter Singer’s appearance on HARDtalk (in which he discusses related issues) and – whilst she is hardly alone in doing so – I felt that she misunderstood what Singer has to say. As a result I intended to watch the documentary to see which bioethicists appeared and if their views were represented accurately.

Despite the programme consisting of Phillips speaking with various people involved with questions re: testing for Down’s Syndrome – including doctors, scientists, individuals with the syndrome and their parents, those who run support groups and one brave women who had terminated a pregnancy following a positive test for Down’s – she did not actually speak to a bioethicist or, indeed, explicitly discuss any bioethical ideas.* Thus, whilst one could think that this documentary was about a bioethical issue – prenatal testing and screening for Down’s Syndrome – there was not any real discussion of the matter from a bioethical perspective.

Of course, in any documentary like this one has to make choices and it may be that including a bioethicist was thought to have been one talking head too many.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Spotlight on Non-Invasive Prenatal Testing

Chris Kaposy suggests that Canada should learn from the United States’ failure to regulate the industry for Non-Invasive Prenatal Testing.

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Non-Invasive Prenatal Testing to detect genetic conditions in fetuses is a growing industry. Originally developed to screen traces of cell-free fetal DNA in the blood of pregnant women for the purpose of identifying fetuses with Down syndrome, Non-Invasive Prenatal Testing kits are now available for trisomies 13, and 18, sex chromosome aneuploidies, and a myriad of sub-chromosomal deletions that cause conditions such as Prader-Willi/Angelman syndrome, Wolf-Hirschhorn syndrome, and Jacobsen syndrome.

I recently co-authored an article in the journal Prenatal Diagnosis that details some of the impact of this expansion of prenatal testing on American groups that advocate for persons with the genetic conditions detected by this new form of prenatal testing. Advocacy group members, some of whom participated in writing the article, suggest that the development and the expansion of Non-Invasive Prenatal Testing have occurred without sufficient regulatory oversight in the United States, and without adequate genetic counselling resources.

The early industry-funded studies into Non-Invasive Prenatal Testing for Down syndrome related that these tests demonstrated a high degree of sensitivity (an ability to successfully identify fetuses with Down syndrome) and specificity (an ability to correctly identify fetuses without Down syndrome). Subsequent studies by independent researchers and clinics, however, were less definitive than the initial industry-based studies. These studies noted several problems including false positives, questions about positive predictive value, and other test limitations. Nonetheless, tests for rarer conditions such as genetic microdeletions were introduced to the American market with less supporting data than originally provided for Down syndrome testing.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

Down Syndrome test may lead to a rise in termination

A safer and more accurate screening test for Down Syndrome is set to become available on the UK’s National Health Scheme, raising concerns about increased termination of babies with disabilities.

The new screening procedure, known as a cell-free DNA (cfDNA) test, detects and analyses fragments of the baby’s DNA in the mother’s blood.

In a recent study published in the New England Journal of Medicine, researchers found that cfDNA test “had higher sensitivity, a lower false positive rate, and higher positive predictive value than did standard screening”. The false positive rate was just 0.06 percent as compared to 5.4 percent for standard screening.

Doctors are enthusiastic as the test means fewer women will need further, invasive procedures (such as amniocentesis) to confirm initial results. Women with abnormal non-invasive test results will still be recommended an amniocentesis or CVS test as confirmation, but far fewer will be needed overall.

Parents of children with Down Syndrome have expressed concern. In a letter to UK Health Secretary Jeremy Hunt, the campaign group Don’t Screen Us Out said that if the NHS funded the treatment it would “result in a profound increase in the number of children with Down’s syndrome screened out by termination”.

Dr Elizabeth Corcoran, of the Down’s Syndrome Research Foundation, said: “We demand Jeremy Hunt halt the roll-out of Non-Invasive Prenatal Testing (NIPT), and listen to the views of people with Down’s syndrome and their families. Make no mistake, this is will not be to the benefit people of with Down’s syndrome, born or unborn.”

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

The Paradigm of the Paradox: Women, Pregnant Women, and the Unequal Burdens of the Zika Virus Pandemic

by Lisa H. Harris, Neil S. Silverman, and Mary Faith Marshall

The inequalities of outcome are, by and large, biological reflections of social fault lines (Paul Farmer)

Three paradoxes characterize the Zika virus pandemic and clinical and policy responses to it:

  1. Zika virus has been shown to cause severe developmental anomalies in the fetuses of infected women. As a result, both women and men in endemic areas are asked to avoid or delay pregnancy. However, access to effective contraception and safe pregnancy termination is either not available (especially for those living below the poverty line) or a crime for many women in Zika-endemic regions. The Brazilian government is confiscating international shipments of pills for medical abortion and is reportedly aiming to increase sentencing minimums for women who obtain abortions for fetal anomalies linked to Zika infection.
  2. Global approaches to pandemic planning and response, including those for the current Zika outbreak, are generally concerned with nominal fairness and the neutrality of procedural justice (i.e., response and allocation strategies equalize chances for those among the general population to receive benefits [or experience burdens]). Pandemic planners strive for systematic fairness by using (ostensibly) random processes (such as first-come, first-served or a lottery) to allocate resources for those who are similarly prioritized. However, pandemics disproportionately affect the disadvantaged, meaning that neutral approaches to global Zika virus pandemic planning and resource allocation will perpetuate and in fact increase existing gender, social, and health disparities.
  3. Historically, concerns for the “vulnerability” of pregnant women and fetuses have resulted in the systematic exclusion of pregnant women from research.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

When Research Bleeds into Real Life: Studying Reproductive Ageing while Ageing Reproductively by Carrie Friese

In a book chapter addressing feminist research methods and women’s health and healing, Rayna Rapp (1999) wrote about the complicated ways in which everyday life is embroiled in feminist research methods. She was speaking about how her own experience with amniocentesis was situated in her now canonical, multi-sited ethnography of this technology, and the corresponding challenges that arise when doing research ‘at home.’ But in recently re-reading this chapter, I have been wondering what happens when feminist research bleeds into everyday life? In this entry for Somatosphere, I want to discuss the complicated ways in which personal experience, combined with time and corresponding social changes, can extend, reshape, and further nuance findings from a research project long considered complete. This extends questions about doing research regarding biomedicine at home, when ‘everything is data’ in a feminist research project that turns out to be everywhere.

While doing my PhD at UCSF, I was a research assistant from 2001-2005 on an NIH funded project that explored couple’s experiences using donor egg and donor sperm. The research was focused on heterosexual couple’s thoughts about and experiences with disclosing this information to their resulting child(ren). Using ethnographic interviews, this disclosure decision was situated in people’s experiences with infertility more generally. Most of the couples I interviewed had used donor egg to conceive their child(ren) in the context of age-related infertility. I went on to write two articles about women’s experiences with reproductive ageing (Friese, Becker, & Nachtigall, 2006, 2008).

What struck me about women’s narratives at that time was the way in which ‘lack of knowledge’ and ‘lack of culpability’ were intertwined in women’s discussions of their infertility, and their subsequent use of donor egg.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Un/Inhabitable Worlds: The Curious Case of Down’s Syndrome by Gareth Thomas

In her superb exposition of staring, Garland-Thomson (2009) draws attention to Chris Rush’s artistic piece Swim 2 which depicts a woman with Down’s syndrome in a regal pose (figure 1).

Figure 1: ‘Swim 2’ by Chris Rush. All rights reserved.

She continues:

The portrait invites us to stare, engrossed perhaps less with the “strangeness” of this woman’s disability and more with the strangeness of witnessing such dignity in a face that marks a life we have learned to imagine as unliveable and unworthy, as the kind of person we routinely detect in advance through medical technology and eliminate from our human community (2009: 83).

Garland-Thomson appears to mark two separate ‘orientations’ (Friedner 2015): one in which Down’s syndrome is afforded a positive social imaginary marked by dignity and worth, and another in which this condition is categorised as an existence without value. Likewise, I see two different and competing ways of enacting Down’s syndrome, that is, as both a negative pregnancy outcome (via prenatal technology) and as joyous and enlightening, and not the misfortune one may initially imagine on receipt of a diagnosis (via parental accounts). I explore these contentions below.

Prenatal Technology: A Troubled Relationship

Down’s syndrome is one of the most common genetic conditions in the world, affecting approximately one to two of every 1,000 live births in England and Wales alone (based on NHS statistics). People with Down’s syndrome are likely to have several symptoms such as learning difficulties, shortened limbs, reduced muscle tone, restricted growth, and a flat facial profile. However, it is by no means a simple or straightforward diagnostic category.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.