Tag: trisomy

Bioethics News

You Should Not Have Let Your Baby Die

Sam, your newborn son, has been suffocating in your arms for the past 15 minutes. You’re as certain as you can be that he is going to die in the next 15. He was born two days ago with “trisomy 18,” a disease that proved no obstacle to his cementing himself immediately and forevermore as the love of your life

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 “disabled” person speaks out against a particular form of discrimination

Amidst lots of dark and tragic stories, a bright ray on the BBC website this week: Kathleen Humberstone, a 17 year-old English girl with Down syndrome, addressed the UN in Geneva to mark World Down Syndrome Day.

Rather than reading anything I have to say, a far better use of your time would be to read what Ms. Humberstone said. You can find the full text here; if you scroll down you can listen to her speech and an eloquent talk her mother gave afterwards.

The speech is only 3 minutes 42 seconds, and the mother’s talk 5 minutes 48 seconds. It is well worth every second of your time to listen to these women. However, for those of you who don’t have the time or place to listen, I will give a few highlights here.

From Kathleen’s talk (when she refers to “testing,” she’s talking about prenatal genetic testing to detect and abort fetuses suspected to have Down syndrome):

Bonjour, Hello! I can’t believe I’m here! I’m at the UN, in Geneva! Do you know why? Because I have 47 chromosomes. That’s just crazy!! Thank you Down syndrome! I’m here to talk to you about my life and why it is worth living . . . I love everybody. I can’t help it! I hope everybody loves me. I have Down syndrome. Yes. Is that so wrong? So, why all this testing? Why? My name is Kathleen Humberstone and I love my life!!

From Kathleen’s mother’s talk:

You know that trisomy 21 happens to be one of the easiest disabilities to identify at the moment in utero. More will follow. And eventually all disabilities will be identifiable in utero. So, parents of future generations will have quite a few choices to make.

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

Kids with Trisomy 13 and 18 can have good quality of life

Former Senator Rick Santorum with daughter Bella in 2012   

Should babies with Trisomy 13 and Trisomy 18 be given life-sustaining treatment? Both conditions are associated with severe physical and intellectual disabilities and most die children in their first year. So until recently, few of them were treated. Doctors regarded the conditions as “lethal congenital anomalies”.

However, according to a surprising study in JAMA, the Journal of the American Medical Association, it turns out that the consensus was wrong. Bioethicist John Lantos, a former President of the American Society of Bioethics and Humanities, commenting on an article about the survival rates, says:

In the age of social media, however, everything changed. Parents share stories and videos, showing their happy 4- and 5-year-old children with these conditions. Survival, it turns out, is not as rare as once thought. Children who were not institutionalized looked happy, cared for, and loved. It became increasingly awkward to describe these conditions as incompatible with life to parents who had ready access to information showing that it was not true.

One of these babies was Bella, the child of Senator Rick Santorum, a former presidential hopeful. He and his wife were told ““You realize that your child is going to die. You have to learn to let go.” The Santorums did not follow the doctors’ advice; their daughter is now 8 years old and in a stable medical condition.

This story illustrates how predictions of lethality become self-fulfilling prophecies [writes Lantos]. If Bella had not received supplemental oxygen or cardiopulmonary resuscitation, predictions that she would die early in life would have turned out to be true.

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

Trisomy 13 and 18—Treatment Decisions in a Stable Gray Zone

In a new JAMA editorial, John Lantos shows that what was long framed a “futile” is really just a value judgment framed as a medical judgment.

“Thirty years ago, pediatric residents were taught that trisomy 13 and 18 were lethal congenital anomalies. P…

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

Would a Therapy for Down Syndrome Change Lives For Better or For Worse?

By Sarika Sachdeva
This post was written as part of a class assignment from students who took a neuroethics course with Dr. Rommelfanger in Paris of Summer 2016.

Sarika Sachdeva is an undergraduate junior at Emory studying Neuroscience and Behavioral Biology and Economics. She is involved with research on stimulant abuse and addiction under Dr. Leonard Howell at Yerkes National Primate Research Center.
Researchers around the world are working to develop treatments and cures for all kinds of genetic disorders and abnormalities, but what happens when the people affected by the condition don’t want it taken away? New breakthroughs in treatment are often controversial for non-fatal conditions such as Down Syndrome, which causes inhibited neural communication and leads to learning delays as a result of an extra copy of chromosome 21 (Rochman, 2015).

Recently, a study from the Boston University Medical Center claimed to have identified differences in gene expression that are found in people with Down Syndrome. Previously it was thought that most of the effects of Down Syndrome occurred prenatally, but comparisons between toddlers and adults with the disorder revealed that changes in white matter levels in the brain are actively occurring during development. People with Down Syndrome have defects in their oligodendrocytes, a type of brain cell that forms white matter. This defect causes people with Down Syndrome to have less white matter than unaffected individuals. White matter insulates nerve fibers and facilitates communication between brain cells; thus, decreased white matter formation slows signal transmission and leads to the learning delays associated with Down Syndrome.

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

Simon’s Law – Requiring Parental Consent for DNAR Orders

Both Kansas and Missouri are considering enacting Simon’s Law.  This legislation would prohibit clinicians from placing DNAR orders on critically ill children without their parent’s knowledge or consent.


KNOWLEDGE:  Prohibiting secrecy and covertness is a solidly defensible goal.  As a series of recent high profile UK court decisions explain, clinicians should not write DNAR orders without family knowledge.  


CONSENT:  But the Simon’s Law legislation also requires clinicians to obtain parental consent.  I have called this sort of requirement a “red light” law.  And I have been critical of this approach.


But the father of the child for whom the law is named wrote a powerful newspaper letter.  Scott Crosier questions whether “medical professionals and institutions . . . are all-knowing and a better decision-maker than a parent or loved one. . . .  Do they really believe their medical acumen is so superior to a family’s love?”


CPR is not physiologically futile for a baby with Trisomy 18 or for other critically ill babies.  Therefore, the appropriateness of CPR is not a medical or scientific judgment.  It is a heavily value-laden judgment about whether CPR is worthwhile. 

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

Hawaii Born Alive Infant Protection Act

The Hawaii House of Representatives is considering H.B. 2763, the Born Alive Infant Protection Act.  This bill would prohibit denying or depriving a born alive infant of nourishment or medically appropriate and reasonable medical care and treatment.


Interestingly, the bill applies only to infants born as the result of an attempted abortion.  It seems that an interest in protecting potential infant life would extend to protecting those infants both other than through an attempted abortion.  

The bill’s treatment requirement is not categorical.  It has a medical futility provision.  It exempts treatment that would only “temporarily prolong the act of dying when death is imminent.”  But not limiting the application of the bill to the abortion context could protect disabled (e.g. Trisomy 18) and extremely premature infants among others.  If Hawaii wants to protect potential infant life, it seems oddly under-inclusive to limit it to this one class.

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

Pro-Lifers’ Arguments Might be their Greatest Gift to Pro-Choicers

Abortion is always going to be a controversial topic.  For what it’s worth, I that there’s nothing wrong with it.  That’s me speaking from my habitual non-consequentialist position.  From a more utilitarian perspective, I’m willing to concede that a world in which abortions happen is worse than a world in which they don’t because noone gets pregnant without wanting it, and everyone is perfectly happy to continue with her pregnancy; but it’s a whole lot less bad that a world in which women are compelled to continue with pregnancies they don’t want.  In other world, there’s no need or desire for abortion in super-happy-fluffy world, and super-happy-fluffy world is better than the real world – but we live in the real world, and having abortions available makes the real world better than it could be.

I’d like to think that I’m doughty enough to have my mind changed on this, though.  Should someone have a really good argument for the wrongness of abortion, or the overwhelming badness, I’d like to think that I could be persuaded – that I’d let the argument go wherever it takes me.  I think that that’s just intellectual honesty.  It’s just that I have yet to come across an argument that I find persuasive, and I don’t even know what such an argument would look like.

What I can say is that, while I find even the best pro-life arguments unpersuasive, some are worse than others, though.  There’s a guy who keeps posting to the Bioethics Facebook group with links to lamentably bad arguments.

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

Rationing – The Case of NICU and the Place of Cost-effectiveness Thresholds

Julian Savulescu will be delivering the next public lecture at the Australian Centre for Health Law Research:  “Rationing – The Case of NICU and the Place of Cost-effectiveness Thresholds” on May 18.

When health professionals are considering whether or not to provide life-sustaining treatment to a critically ill newborn infant, they often consider the best interests of the child. Frequently, they will consult with the infant’s parents, and take into account parents’ interests and their views about treatment for the child. However, there is one important ethical factor that health professionals do not necessarily consider, or (at least explicitly) acknowledge. Resource limitations and the effect of treatment of others are of fundamental importance for end of life decisions, even in well-resourced countries like Australia.

In this presentation Professor Savulescu will first set out the principles that should underlie resource allocation in a public health system. He reviews arguments for and against rationing. In the second half of the presentation Professor Savulescu will use existing cost effectiveness thresholds to shed light on the question of medical futility in intensive care. He draws on the examples of short-bowel syndrome, spinal muscular atrophy, neonatal ECMO and trisomy 18. 

  • How low a probability of survival is too low
  • How long a course of intensive care is too long? 
  • When are doctors justified in withholding treatment because of future quality of life? 

Rationing is inevitable in intensive care. However, for it to be ethical it must be transparent, consistent and rational.


Professor Julian Savulescu is the Uehiro Chair in Practical Ethics, Director of the Oxford Uehiro Centre for Practical Ethics at the Faculty of Philosophy, University of Oxford and Director of the Institute for Science and Ethics, Oxford Martin School at the University of Oxford.

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.