Prenatal Diagnosis of Down Syndrome: Delivering Results in our New Age of Genetic Testing

A webinar version of a presentation by Dr Brian Skotko, Co-director, Down Syndrome Program, Massachusetts General Hospital, 16 December 2016 (62m 17s)

In this presentation, Dr. Brian Skotko reviews the latest advances in prenatal testing for Down syndrome. He further reviews the evidence-based research on how physicians can effectively deliver a prenatal and postnatal diagnosis of Down syndrome. The presentation includes highlights from his publications in Pediatrics, American Journal of Obstetrics and Gynecology, and American Journal of Medical Genetics.

• Brian Skotko's You Tube channel and website

Dr Skotko's approach is congruent with the DSi position statement:

Down Syndrome International: Position Statement on Prenatal Testing

... DSi asserts and defends the right of a woman (or a couple) to information about the human rights and potentialities of children with Down syndrome. 

DSi encourages a balanced and informed approach to the use of prenatal tests by government policies, the professionals involved and all family members. 

DSi contends that voluntary screening should be available to all pregnant women on request and the decision to undergo testing has to be made by the pregnant woman (or couple). 

BUT, that at the time of testing, easily understood information MUST be provided that is up-to-date ...

... This information MUST be provided in an unbiased way by well trained professionals who understand their ethical responsibilities as well as having good communications skills and up-to-date information. At the same time, potential parents should be directed to further sources of information ... read the whole statement here.

Down Syndrome Australia submission on adding NIPS to the Medicare Benefit Scheme

From Down Syndrome Australia, 4 February 2017

Over the last few years the capacity to test for genetic conditions such as Down syndrome before birth has increased. It is now possible to detect various chromosomal conditions prenatally through a blood test also known as a non-invasive prenatal screening (NIPS). The Medical Services Advisory Committee (MSAC) received two applications in July 2016 to add NIPS to the Medicare Benefit Scheme.

For your information,  the applications that have been made to MSAC are here and here 

Down Syndrome Australia has provided a comprehensive submission which outlines our concerns about these applications.

Down Syndrome Australia believes that prenatal screening must be accompanied by appropriate information to support families in making informed decisions about screening and how to respond to the results. Providing a screening test without ensuring informed consent, adequate support and up-to-date information regarding the results is unethical.

It is important to note that Down Syndrome Australia recognises the right of all women to choose to continue or to terminate a pregnancy. Marking such decisions can be extremely difficult and our concern is regarding the accuracy of the information being provided to inform that choice ...

• You can read more and download the DSA submission, including recommendations, on the DSA website, here

If you want to provide your own feedback to MSAC regarding the listing of NIPS on the PBS you can write to: hta@health.gov.au

Commentary on non-invasive prenatal screening

A lot of the most recent media attention and commentary on non-invasive pre-natal testing/screening has arisen from UK proposals about providing this testing under the National Health Service there, but it continues to be discussed vigorously around the world:

Is Screening The Solution To A Down Syndrome Problem?

Renate Lindeman, Huffington Post, 29 October 2016

October is Down Syndrome Awareness Month. For weeks the web was flooded with beautiful photos and inspirational stories of men and women who became pre-school teachers, Zumba teachers, athletes, models, DJs, artists, etc. There has never been a better time to live with Down syndrome, or has there?

Fears over new Down's syndrome test may have been exaggerated, warns expert

Hannah Devlin, The Guardian, 5 November 2016
Leading statistician says evidence suggests there will be no change in number of terminations, and more than 40 miscarriages a year will be avoided ...

Why having Down syndrome is not a ‘choice’ but the systematic eradication is

Renate Lindeman, Huffington Post, 6 November 2016
... We can all agree however, that having Down syndrome is not a choice. Neither is being a woman, or a man, being colored, transgender, having a different sexual preference, a high IQ or short legs. The only choice we have is to prevent the births of babies based on any of these human traits. And while NIPT can potentially detect a range of genetic (chromosomal) conditions, microdeletions and duplications in an unborn child, it is focused mainly on detecting Down syndrome. That is a choice ...

Doctors question accuracy of prenatal tests that predict Down syndrome

Blake Hanson, WSOC-TV, 23 November 2016

... (Dr Brian) Skotko told Channel 9 that the 99 percent accuracy rate advertised on test manufacturers’ websites refers to the test picking up 99 percent of fetuses who have Down syndrome. He said it's important that patients ask for the accuracy of the test if it comes back positive.

Non-invasive prenatal tests, or NIPT, became popular in 2011. Skotko said the technology moved quickly, but the explanation of information to patients hasn't kept up ...

Other recent posts on NIPT

• A Lateline (ABC TV) report last month highlighted the need for better information and support for families who receive a high probability result of Down syndrome during their pregnancy. This link to Down Syndrome Australia's response to the program was posted on 23 November 2016

• The link below was also included in the most recent post on research into aspects of Down syndrome, here:

Non-invasive Prenatal Testing and the Unveiling of an Impaired Translation Process

Blake Murdoch et al, Journal of Obstetrics and Gynaecology Canada,

Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However, there is also concern that the economic and near-future clinical benefits of NIPT have been overstated and the potential limitations and harms underplayed. NIPT, therefore, presents an opportunity to explore the ways in which a range of social pressures and policies can influence the translation, implementation, and use of a health care innovation ...

• The full text available without charge online 

Down Syndrome Australia responds to Lateline Story on prenatal testing and support

The story broadcast on Lateline  (ABC TV 1) last night highlights the need for better information and support for families who receive a high probability result of Down syndrome during their pregnancy. Many parents in the Down syndrome community have said that the information they were given was outdated or focused on a very negative portrayal of what it is like to have a child with Down syndrome.

The Lateline story not only presents the experiences of parents, but very importantly features Nathan Basha, eloquently voicing his perspective as a person with Down syndrome. 

The 22 November 2016 episode of Lateline is now available online until 10:30pm on 6 December 2016. The segment starts at 3m 14s.

This media release also gives an update on Down Syndrome Australia's current work in this area, and provides links to some of the resources we have produced for parents and health practitioners:

The story broadcast on Lateline (22 November 2016)  highlights the need for better information and support for families who receive a high probability result of Down syndrome during their pregnancy. It is essential that good information is provided to support informed decision making in regards to testing and responding to the results. 

While the study discussed in the broadcast is not scientific or peer-reviewed it provides a description of the experience of a number of women and warrants further investigation. Given the very preliminary nature of the survey and the fact that it was conducted by a private individual we will not comment further on the results. 

Down Syndrome Australia is proactively engaged in advocating to government, relevant medical organisations and professional bodies including the Australian Medical Association to promote better information and support for families with regards to prenatal testing. We have developed an evidenced-based submission which will be provided to the Medical Services Advisory Committee as part of their consideration of listing the non-invasive prenatal testing on MBS. 

As the only national voice for people with Down syndrome, we will continue to work collaboratively with the sector to achieve better support for families.

There is evidence from a range of sources that suggest that often women are not being provided with adequate information both prior to and after the screening tests are completed. Feedback from the Down syndrome community suggests that in many cases the information provided to families is outdated or focused on a very negative portrayal of what it is like to have a child with Down syndrome. 

Some families who choose to continue their pregnancy after a high probability result indicate that they do not feel supported by the medical community and that termination is repeatedly offered despite a clear decision having been made. This is highlighted in the story tonight with one of the families indicating they felt “pressured to terminate”.
It is imperative that the medical community provide appropriate counselling and support regardless of the decision to continue or to terminate a pregnancy. It should be acknowledged that many doctors and midwives do support families who have a high probability result for Down syndrome with good information and provide excellent support during the pregnancy. 

Down Syndrome Australia recommends that the Government support a national training program for GPs and midwives who are providing pre and post screening counselling to ensure that they are skilled at providing informed consent and appropriate post screening counselling. 

More information about the work of Down Syndrome Australia and the contact details for local support and services can be found on our website.

• Fact sheet on prenatal testing
• A resource for new parents
• For media queries, contact media@downsyndrome.org.au
• Download this media release here

Down Syndrome Australia calls for better information to support new pre-natal testing

Statement from Down Syndrome Australia, 5 October 2016

Down Syndrome Australia welcomes the current discussion in the media about pre-natal testing, prompted by the release of a BBC2 UK documentary involving British actress Sally Phillips who is the mother of a child with Down syndrome, exploring issues around pre-natal testing for Down syndrome.

Over the last few years the capacity to test for genetic conditions such as Down syndrome before birth has increased. It is now possible to detect various chromosomal conditions pre- natally through a blood test also known as a non-invasive prenatal test (NIPT).

It is the view of Down Syndrome Australia that this advance in medical technology must be accompanied by appropriate information to support families in making informed decisions about testing and how to respond to the results. Feedback from the Down syndrome community suggests that in most cases the information provided to families is out-dated or focused on a very negative portrayal of what it is like to have a child with Down syndrome.

“It is critical that decision-making following a diagnosis of Down syndrome is informed by accurate and relevant information and made freely after active consideration of one’s own values and beliefs” stated Angus Graham, Chairman, Down Syndrome Australia.

Down Syndrome Australia is a non-profit organisation whose primary aim is to represent and progress the needs, interests and aspirations of people with Down syndrome and those who support them throughout Australia.

Since its establishment, Down Syndrome Australia has worked closely with its member organisations, the eight State and Territory Down Syndrome associations in Australia, on issues related to pre-natal testing including by developing a national resource available on its website, to ensure that expectant parents in Australia are provided with contemporary, balanced and up-to-date information about Down syndrome and prenatal testing.

Down syndrome Australia will continue to advocate for better pre-natal information and support as part of its commitment to improving the lives of people with Down syndrome throughout Australia.

Recent commentary on prenatal testing, disabled people's rights and women's rights

7 Kids with Down Syndrome in court to defend the Ad about Trisomy 21

Annalisa Lista, WEST, 9 September 2016

There is a French court case that will certainly go down in history. The protagonists are 7 young people with Down Syndrome. They are appealing to the National Authority because of a decision by another French body (that evaluates content of advertising) to remove a commercial that tells young mothers who are expecting babies with Trisomy 21 to not be afraid. 

The commercial was taken off the air because it was considered ambiguous and discriminatory against women who, if in the same situation, would choose abortion. The participants in a widespread anti-abortion movement and the many associations that for years, have protected the rights of parents with children who have Down Syndrome, have a very different perspective. 

In fact, it was precisely these people who asked the children of the parents they represent (with Down Syndrome) to show up in court, without lawyers — to give more visibility to the case. Needless to say, they are against the French body that pulled the ad.

Disability rights and reproductive rights don't have to be in conflict

David Perry and Elizabeth Picciuto, LA Times, 29 August 2016

... Rather than limit women’s rights, we believe we must build a more understanding, accessible society that supports people with disabilities and provides services to parents. That’s how we can safeguard access to abortion while ensuring that it isn’t the only feasible option following a prenatal diagnosis.

The first step is to educate the public. Mass media and our politicians repeatedly send out the false message that disability equals suffering. Disabled people do suffer and struggle. But much of that suffering is caused by correctable injustices: lack of resources, lack of accessibility or lack of knowledge ...

NIPT or not to NIPT – is that really the question?
Jane Fisher and Professor Lyn Chitty, Bionews 864, 15 August 2016

... Uptake of Down's syndrome screening varies across the country, with an average of around 65 percent of women in England choosing screening. The other 35 percent either believe their risk is low or do not want to know whether their fetus has Down's syndrome. Among women who accept screening and are found to have a chance of >1 in 150, only around half undergo invasive testing, often because they don't want to put their pregnancy at risk ...

ACMG Releases New Statement on cell free DNA Prenatal Screening
Mark Leach, Prenatal Information Research Consortium, 4 August 2016
The American College of Medical Genetics and Genomics (ACMG) has issued a new statement on cell free DNA prenatal screening. As with its initial statement, the ACMG separates itself from existing statements and guidelines on cfDNA screening ...

Keeping the Backdoor to Eugenics Ajar?: Disability and the Future of Prenatal Screening

Gareth M. Thomasand Barbara Katz Rothman, AMA Journal of Ethics. April 2016, Volume 18, Number 4: 406-415
In this short commentary, we reflect on how ideas about disability intersect with prenatal technologies and what this likely means for the future landscape of reproductive medicine. In what follows, we assess the argument that prenatal technologies represent a form of “eugenics,” defined here as practices and policies designed to promote the reproduction of people with desired attributes—and, thus, avert the reproduction of people with undesired attributes (e.g., people with disabilities). The idea that the world and the people in it would be better off if everyone were born “healthy,” that is, without “defect,” is the essential principle of eugenics (translated literally as well-born) ...

Let's hear from Dr Brian Skotko

A medical geneticist in Boston, whose sister Kristen has Down syndrome, Dr Brian Skotko is well known and highly regarded with the Down syndrome and medical communities. This is a small sample of his recent public speaking activities:

Interview with Brian Skotko
Recorded December 2015 (audio 1 hr 9 mins)
Rob Snow, comedian and father of a son with Down syndrome interviews Dr Brian Skotko, paediatrician and medical geneticist, Co-Director of the Down Syndrome Program at Massachusetts General Hospital.
A wide ranging discussion, easy to listen to.

Down Syndrome: Not Just An Extra Chromosome
Dr Brian Skotko, Partners Healthcare Medical Genetics Grand Rounds, 17 June 2015
Dr Skotko's presentation on prenatal screening and diagnosis of Down syndrome, and disclosure of results, his research with families, and health care for pwoplw with Down syndrome more generally, with his professional peers at the William K. Bowes Award in Medical Genetics Grand Rounds in June 2015. Dr Skotko was the recipient of the 10th annual William K Bowes Award in 2015.

New dimensions to an ongoing debate/conversation

Why I didn't want to test for Down syndrome before birth

Kasey Edwards, Daily Life, 29th September 2015

... Even when I told the doctor performing my 12-week ultrasound that I didn't want to know the risk of Down Syndrome, he told me the results anyway.

It's standard practice for doctors to withhold other information (at the parents' request), such as the baby's gender, so why - when it comes to information about disability - was my decision not respected? ...

Someone is Missing From the Debate on Ohio’s Bill to Ban Down Syndrome Abortions 

Kari Wagner-Peck, A Typical Son, 24th August 2015

... Am I comfortable with the fact that 60 – 90% of women chose to abort a fetus found to have Down syndrome? No, I’m not. In fact, It angers me. That anger however is not directed at the woman having the abortion. It is at our medical community in its supreme ignorance insisting on relaying antiquated information about Down syndrome to women at what is likely the most vulnerable time in their life.

I place blame as well on our insistence that disability be seen as a profound disadvantage in a society that places an inordinate emphasis on normal. The greatest disability our son faces is what people think of him not his Down syndrome.

The New York Times interviewed two primary sources for coverage of this legislation: Right to life groups and pro-choice organizations. Both responded proforma meaning as expected.

My alliance is obviously with the pro-choice contingent but I was disappointed with their advocates making no mention of people with Down syndrome. They only spoke about ‘Down syndrome’ as a potential cause for concern for expectant mothers ...

... The Times reported “the national and local Down syndrome associations have not taken a position on the bill”. How is that possible? ...

Don't politicize my son over Down syndrome
David Perry, How Did We Get Into This Mess? 24th August 2015
... All of this makes disability-selective abortion possible for Down syndrome in the way it currently isn't for other conditions. But technology is racing forward, and we need to figure out how to talk about these issues. The Ohio legislation's blanket ban isn't going to help at all, but even if it's enforced somehow, it could just lead women to lie about the reasons they aborted, or make Down syndrome code for poverty, when only poor people are forced to give birth after a diagnosis ...

Checking the facts ...

Many in the Down syndrome community, both families and professionals, are concerned that non-invasive prenatal screening tests will lead to even higher termination rates of babies with Down syndrome, without parents having access to the information they need to make the most informed decisions they can, in difficult circumstances.

But it will not help efforts to improve the provision of appropriate  and sensitive information, to have inaccurate statistics and claims made in mainstream media.

This week, a story in a UK newspaper has been 'trending' in social media, but the statistics quoted are disputed by Frank Buckley, CEO of Down Syndrome Education International, who has followed and commented on the emergence of non-invasive prenatal screening and its predicted impacts for some years. Frank is a renowned fact-checker:

Selective terminations of babies with Down syndrome have not risen by 35% in three years

Frank Buckley, Frank Talk (Down Syndrome Education International blog), 14th June 2015

A piece in the UK Mail on Sunday claims Department of Health statistics show “women choosing to abort babies with Down’s syndrome and other serious disabilities soars 34% in three years” and that “the biggest proportion was linked to Down’s syndrome, with 693 terminations last year compared with 512 in 2011″. Data collected by the National Down Syndrome Cytogenetic Register (NDSCR) shows this is not the case ...

Why do counts of terminations of pregnancies diagnosed with Down syndrome in England and Wales differ?
Frank Buckley, Frank Talk (Down Syndrome Education International blog), 15th June 2015

Following yesterday’s Mail on Sunday article and my observation that the data quoted was wrong, many people have asked how the Department of Health abortion statistics can be so different from the terminations recorded by the National Down Syndrome Cytogenetic Register ...

Statistical model for live birth prevalence from 1900 - 2010 in US, and the impact of non-invasive prenatal screening

Debate about the science and ethics of prenatal testing dates from the 1970s, and is nowhere near done with recent developments in non-invasive prenatal screening, and its predicted impact on the numbers of babies being born with Down syndrome now, and predictions for the future:

Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States

Gert de Graf, Frank Buckley and Brian Skotko, American Journal of Medical Genetics, Vol 167, Issue 4, April 2015

The present and future live birth prevalence of Down syndrome (DS) is of practical importance for planning services and prioritizing research to support people living with the condition. Live birth prevalence is influenced by changes in prenatal screening technologies and policies. To predict the future impact of these changes, a model for estimating the live births of people with DS is required. In this study, we combine diverse and robust datasets with validated estimation techniques to describe the non-selective and live birth prevalence of DS in the United States from 1900–2010. Additionally, for the period 1974–2010, we estimate the impact of DS-related elective pregnancy terminations (following a prenatal diagnosis of DS) on the live births with DS ... Our results and our model provide data on the impact of elective pregnancy terminations on live births with DS and may provide a baseline from which future trends for live births with DS can be estimated.

The full text of this important paper is freely available online here.

Prenatal Testing for Down Syndrome: Understanding Two New Studies
Amy Julia Becker, Parents.com, 3rd April 2015

... Over the course of the past decade, the prenatal testing industry has advanced and shifted. New screening tests called Non-Invasive Prenatal Screening (“NIPS”) have come on the market ... a new study ... concludes that this type of testing “had higher sensitivity, a lower false positive rate, and higher positive predictive value than did standard screening.” 

Another study came out this week ... that sheds some light on the significance of the cultural context of prenatal testing. This study analyzed decades of data about prenatal testing and the prevalence of live births of babies with Down syndrome in the United States. It concluded that the rate of live births of babies with Down syndrome is approximately 30% lower than it would be without prenatal testing, because some women choose to terminate their pregnancy after discovering their baby has Down syndrome. 

But even within the United States, the termination rates vary from population to population and from region to region ... This study suggests at least two conclusions. One, the United States as a whole contains many women who choose to have babies with Down syndrome, whether by forgoing prenatal screening tests, forgoing diagnostic tests, or choosing to continue a pregnancy with a prenatal diagnosis. Two, cultural factors play a significant role in determining who decides to terminate pregnancies once trisomy 21 has been identified ...

A sick, unethical cycle: prenatal testing for Down syndrome

Mark Leach, Down Syndrome Prenatal Testing, 3rd April 2015

So many items have cropped up in the past two weeks that here is a listing of all this news about Down syndrome prenatal testing. They lead to a sad conclusion ... But, maybe we can fix it this time with the administration of NIPS if enough people demand that laboratories and practitioners follow the guidelines and respect women seeking prenatal information by ensuring they receive ALL the information.

Down syndrome diagnosis - new support available

Dawkins ill-formed comments a reflection of current advice

Down Syndrome Australia 

26th August 2014

The recent ill-informed and anti-choice comments by Richard Dawkins, directing prospective parents who have a prenatal diagnosis of Down syndrome to terminate the pregnancy, are an unfortunate reflection of the attitudes of many medical professionals in Australia. Expectant parents receiving a diagnosis of Down syndrome have traditionally been offered little in the way of relevant, up-to-date, evidence based information and co-ordinated support at this time of heightened emotional vulnerability.

Contemporary research shows that the provision of balanced information from a number of sources and sufficient space for deliberation have a critical impact on the wellbeing of families in this situation.

Down Syndrome Australia welcomes technological advances that support improved health outcomes for expectant women and their children. ‘Down Syndrome Australia respects the right of families to make decisions appropriate to their beliefs and circumstances,’ says Catherine McAlpine, CEO Down Syndrome Australia, ‘but we also believe that the current level of care usually experienced by prospective parents does not meet this standard of balanced information and sufficient space for decision making.’

Down Syndrome Australia is pleased to address this issue with the launch today of two support resources;

• Down Syndrome Australia pre and post natal information line 1300 881 935. This national 1300 number will connect callers to their local state or territory Down syndrome support organisation to enable access to non-directive information, to ask questions and to speak to, or arrange to speak to, a parent of a child with Down syndrome.

• Prenatal testing for Down syndrome fact sheet. This fact sheet contains easy-to-understand, factual and balanced information for people considering prenatal testing or if a test shows that a baby may have or does have Down syndrome. Download it here.

Down Syndrome Australia recommends that whenever prenatal testing is provided in Australia, good quality information and time for prospective parents to deliberate are also included to ensure best practice. Current, up-to-date and balanced information on Down syndrome, examples of lived experiences and links to other non-directive resources and avenues for support can be found here.

The production of these resources was assisted by a grant from the federal Department of Health.

(US) National Center for Prenatal and Postnatal Down Syndrome Resources: new online clearinghouse

A wealth of high quality information for expectant and new parents, their families and the professionals that support them:

The (US) National Center for Prenatal and Postnatal Down Syndrome Resources at the University of Kentucky's Human Development Institute oversees three medically reviewed programs that complement each other in providing important resources and information for new and expectant parents learning about a diagnosis of Down syndrome: Brighter Tomorrows, Lettercase, and Down Syndrome Pregnancy.

These programs also offer valuable resources for medical professionals delivering those diagnoses.

The National Center provides this clearinghouse of professionally recommended resources so that medical practitioners, expectant parents, and new parents have access to accurate, up-to-date, and balanced information about Down syndrome.

Insight, SBS One tonight, 8.30 pm: Designing Babies

This episode of Insight, screening tonight, '... looks at the ethics of so-called designer-babies.'

Where should we draw the line on genetic screening?

Is there anything wrong with choosing your baby's health, sex, personality, even intelligence? 

Every day, mothers are being screened to see if their future children could be at risk of diseases including Down syndrome, cystic fibrosis, muscular dystrophy and spina bifida. 

But sex selection for non-health reasons is not allowed here so many Australians are going to IVF doctors overseas to choose to have a boy or a girl. 

In the not-too-distant future, parents might even be able to choose elements of their baby’s personality and intelligence. 

Insight looks at the ethics of so-called designer babies. Should humans embrace the new genetic technologies to ‘breed out’ disease? Or are we, as one guest puts it, in the grip of “gene mania”? 

Guest lineup

• Insight is repeated Wednesday 1:00pm SBS ONE, Wednesday 7:30pm SBS TWO
• Available now on SBS On Demand on computer, iPad, iPod and iPhone (no expiry date is given)

Research: are termination rates as high as previously thought?

A new research paper,  published by the journal Prenatal Diagnosis, provides more up-to-date information and analysis of the termination rates of pregnancies in the US, in which a diagnosis of Down syndrome has been made prenatally, indicating lower rates than have been found in earlier international studies (60 - 85%, rather than more than 90%).

The researchers concluded that  from US data alone ...


This systematic review presents the largest synthesis of United States data on termination rates following a prenatal diagnosis of Down syndrome. Evidence suggests that termination rates are lower than noted in a previous review that was based on less contemporary studies and had an international focus. Heterogeneity across studies suggests that a summary termination rate may not be applicable to the entire US population.\\The full text of the paper is freely available online here.


Citation:
Jaime L. Natoli, Deborah L. Ackerman, Suzanne McDermott, Janice G. Edwards, Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995–2011), Prenatal Diagnosis, Vol 32, Issue 2, pp 142–153, February 2012

Dr Adam Wolfberg, a Boston obstetrician, neonatalogist and medical writer explains for The Atlantic magazine, why the data might vary internationally, and over time.  He also speculates that new non-invasive prenatal diagnostic tests might or might not result in the dramatic drop in birth incidence widely anticipated.

Prenatal diagnosis: a broader perspective

This series of three well considered articles was published on Sunday (4th December 2011) by the Columbus Dispatch (from Columbus, Ohio), under the collective heading Down Syndrome Testing.  It takes a much broader survey of the complex scenario of prenatal diagnosis of Down syndrome, the whole range of ways in which parents and professionals might respond, and the information and support available.  It is a stark contrast to the article we blogged about yesterday. Links to the individual parts are all available from the lead page, and are headed:


A chosen child - after prenatal testing, Short North couple embraces the future
Down syndrome: thorny choice - new, less risky procedure increases moral quandary
A fair share? Advocates, genetic scientists say that other medical, developmental conditions receive much more attention, financial support

If you choose to read the comments (not always a good idea!), you will see that at least one person questions the evidence for the reference to high termination rates after prenatal diagnosis.  Here is a recent paper (published February 2011) that explains what is known, and where those statistics come from, in the US:
Demographic differences in Down syndrome live births in the US from 1989 to 2006 .

This 2008 paper provides an analysis of birth statistics in Victoria:
Is Down Syndrome a disappearing birth defect?
(the abstract only is currently available online - contact the Down Syndrome NSW library if you would like to arrange access to a copy of the full text)


The recent clinical release of a new non-invasive diagnostic prenatal test for Down syndrome (performed on a blood sample from the mother) in 20 US cities has stimulated much discussion in the Down syndrome community and the media generally. Boston geneticist and writer, Dr Brian Skotko, is often quoted on these matters - here is an article he wroter earlier this year:
Will babies with Down syndrome slowly disappear?


The final word today goes to Pamela Wilson, BellaOnline's Children with Special Needs Editor:
My son is a much better ambassador for the Down syndrome community than I will ever be, just being himself and interacting with people one by one. I believe that if everyone in the world had the chance to spend a few days with him, he would put Sequenom (the company that has released the new test first) out of business. But he has plans of his own, so it's up to others to make expectant parents aware of the real choices they have after Sequenom sells them and their medical providers the test.

Non-Invasive Prenatal Testing for Down Syndrome

Your comments are welcome, as always ...

Prenatal diagnosis: advocating for appropriate information and support

Yesterday, the Sunday Telegraph (Sydney) reprinted in its magazine, an article from the UK Daily Mail, 'I was bullied into aborting my baby' , a mother's account of the pressure she felt to terminate her pregnancy, when her baby was diagnosed prenatally with Down syndrome, 6 years ago.

Her description of how the diagnosis was delivered and the biased information she received are at odds with currently recommended practices about delivering the diagnosis, non-directive support for decision making, and the information that should be made available to parents, all of which is now readily available from several sources, including:

Discussing Down syndrome: a physician's guide published online by the National Down Syndrome Congress (USA)

Brighter Tomorrows published by the Interdisciplinary Human Development Institute, University of Kentucky 

Dr Brian Skotko's research, much of which is freely available through his website.

Our own website's pages on prenatal diagnosis.

Preventing experiences similar to this family's is an important part of the reason that, like Down syndrome family support organisations worldwide, Down Syndrome NSW puts considerable resources into community awareness activities, why many families choose to share their experience through the media (such as The Project's recent report), and why our top priority is accurate, current information for families, the professionals that serve them, and the communities in which they live.

(We did find the mother's comment that she never sees babies with Down syndrome now a little odd - one of the greatest changes that has occurred for people with Down syndrome, including babies, over recent decades is their increased visibility in communities everywhere.) 

Families are welcome to contact the Parent Support Team at Down Syndrome NSW on 02 9841 4401 or support@dsansw.org.au

Non-invasive prenatal test due to be released in US

A news release from the National Down Syndrome Society in New York, proposing criteria for new types of prenatal testing, coincides with reports of the first commercial release of  non-invasive prenatal tests that are reported to diagnose Down syndrome, with more than 98% accuracy:
National Down Syndrome Society Establishes Criteria to Evaluate Companies with Non-Invasive Prenatal Diagnostic Tests for Down Syndrome

The National Down Syndrome Society (NDSS) recognizes that many companies, both within the United States and abroad, are developing new noninvasive blood tests that might be able to detect Down syndrome prenatally.  The NDSS appreciates that these tests are likely to be safer for pregnant women than the current invasive options of chorionic villus sampling and amniocentesis.  However, before these new tests are made commercially available, companies should first meet all of  (these) criteria .... read the whole statement detailing the criteria.

New York Times article on the test's first commercial release, this week.

The research paper, to be published in the journal Genetics in Medicine, describing the latest trials upon which the release of this test is based is online here (the abstract is free).

DNA techology and IVF

Technology newly applied in IVF, described in this news article is similar to that being developed as non-invasive diagnostic prenatal testing for Down syndrome and other conditions, where foetal DNA will be sampled from the mothers blood. 

New Prenatal Testing: Are You Ready?

We at DownSyndromePregnancy.org challenge you to make a personal action plan so that the day the new test will launch expectant parents across the nation will have the support and information they need to truly understand Down syndrome.

Learn more about this well developed and practical action plan here.

Living the Up Syndrome: Sunday Telegraph

Jane Hansen, Sunday Telegraph, 20th February 2011:

On February 11, 2009, Riley Cohen was born into an imperfect world. For all its flaws and faults, his parents are now eternally grateful for one in particular: the pre-natal screening program set up to detect the extra chromosome Riley carried was inaccurate and cleared him of any defects.
.... read on.

Also by Jane Hansen today: Ending fears of risky test