New statistics on incidence and prevalence of Down syndrome in the USA

Posts and pages linking to statistics about birth incidence and population prevalence of Down syndrome are popular on this blog, probably most often accessed by students.  A permanent link is located in the list at the top of this page. But it is more important that we know how many people have Down syndrome so that appropriate and sufficient supports can be planned for. This interesting new paper adds to information about people with Down syndrome living in the USA:

Study estimates numbers of people with Down syndrome in the US since 1950
Mass General News (Massachusetts General Hospital), 8 September 2016
A new study has estimated, for the first time, the numbers of people with Down syndrome in the U.S., from 1950 until 2010. The total number arrived at by the investigation, which also is the first to break down its findings by ethnic group, is considerably less than previously estimated by several organizations ...

Citation:
Estimation of the number of people with Down syndrome in the United States
Gert de Graaf, Frank Buckley and Brian G. Skotko, Genetics in Medicine (2016). Published online 08 September 2016

• The abstract is free online, access to the full text of the article requires purchase. 

Down Syndrome Education International (where Frank Buckley is CEO) has published a brief fact sheet distilling the numbers from the new research paper, to answer a series of questions about changes:

• People living with Down syndrome in the USA:BIRTHS AND POPULATION

2015 Survey of Disability, Ageing and Carers: results

This publication contains the first results from the 2015 Survey of Disability, Ageing and Carers. This will be followed by a Summary of Findings in late 2016.

Disability, Ageing and Carers, Australia: First Results, 2015
29 April 2016
This publication is the first release of data from the 2015 Survey of Disability, Ageing and Carers (SDAC). It presents key information about disability prevalence in Australia as well as data about older Australians (those aged 65 years and over). Data is also included about people with disability who reported that they had experienced discrimination. Future releases will provide greater detail about these groups and important information about carers ...
Experience of discrimination for people with disability
The 2015 SDAC introduced a new disability discrimination module designed to estimate the prevalence of discrimination for those with disability and identify the nature of this discrimination. Included in this initial release of SDAC data is information about Australians with disability who were living in households, aged 15 years and over, and their experience with discrimination because of their disability.

In the last 12 months:

• Almost one in 12 Australians with disability (281,100 people or 8.6%) reported they had experienced discrimination or unfair treatment because of their disability. 
• Rates of reported discrimination were similar for men (8.3%) and women (8.9%). 
• Young people with disability (aged 15-24 years) were more likely to report the experience of discrimination (20.5%) than those aged 65 years and over (2.1%). 
• The source of discrimination was an employer for almost half of those aged 15 to 64 years with disability who were unemployed (46.9%) or employed full-time (46.2%) and just over one third (34.6%) of those employed part-time, at the time of the survey. 
• Over one third (35.1%) of women and over one quarter (28.1%) of men aged 15 years and over had avoided situations because of their disability. 
• Older people (aged 65 and over) were less likely to avoid situations because of their disability (20.1%) than younger people.

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.

How many Australians have Down syndrome?

In support of its call for the establishment of a national register of Australians with Down syndrome, our national peak body, Down Syndrome Australia, has put together the fragmented information that currently exists to provide an evidence based estimate of the number of Australians with Down syndrome.

We believe the population to be over 13,000 and growing.  As there is no national, state or territory register of Australians with Down syndrome (with the exception of the IDEA database in Western Australia) this number cannot be rigorously confirmed. However, Down Syndrome Australia is confident that our collation of what little data is available is accurate. You can read the summary here.

• This post, originally published in 2009, is updated as new information becomes available.  It provides links to relevant statistics and commentary about estimates of birth incidence and population prevalence of Down syndrome in Australia and elsewhere.

Fewer people with Down syndrome live in the US than previously thought

This blog post was originally published in January 2009, and remains one of the most visited, according to Google's statistics (possibly by students looking for statistics for assignments).

We have updated the from time to time, and have now added a link to the most recent revision of estimates of the number of people living with Down syndrome in the US. It is now thought that previous estimates were 25 - 40% too high, and did not account for all the factors that determine population numbers.

• For all posts on this blog about statistics in NSW, Australia and internationally, click here

Some more statistics: Latest data on births in England and Wales

If you are interested in how many babies are being born world-wide with Down syndrome now, Frank Buckley's blog post about the latest statistics for England and Wales will be a useful addition to the most recent statistics for NSW, that we posted about earlier this week.

Frank Buckley is the CEO of Down Syndrome Education International, based in England. He blogs at Frank Talk.

NSW birth statistics updated to 2010

NSW Health has recently released the New South Wales Mothers and Babies Report 2010.

Chapter 9, Congenital Conditions includes the most recent pregnancy and birth statistics on babies with Down syndrome, pp 92 - 100. The statics are listed in tables and graphs indicating trends, but no specific comment is made in the text about trends related to Trisomy 21.

This report updates the NSW the statistics referred to in this 2009 post  which is still often accessed.

NSW Mothers and Babies Reports 1996 - 2010 are now individually linked from this NSW Health web page.


National data is collated by the Australian Institute for Health and Welfare, which has published it online and in print from time to time, as Congenital Anomalies reports - but they are currently listed as 'not reported on'.

The most recent AIHW data on the birth incidence of Down syndrome is a rate of 11:10,000 given as the rate of Down syndrome occurring among infants at birth 1998 - 2003, in the report, A picture of Australia's children 2009, Part ll: How healthy are Australia's children, p 11 - table of indicators. In Section 7, Congenital Anomalies, Table 7.1 (p 29) gives rates and numbers of babies born with Down syndrome in indigenous and non indigenous populations (no significant difference), and by geographical location with commentary on differences, and notes that termination because of Down syndrome occurred at more than twice the birth rate (25:10,000).

Australian Childhood Vision Impairment Register

The Australian Childhood Vision Impairment Register is sponsored by the Royal Institute for Deaf and Blind Children, in partnership with Guide Dogs, Vision Australia, other low vision service providers, children with vision impairment and their families.
The Register is the first of its kind in Australia, and is capturing uniquely Australian data which will be used to improve services for children with vision impairment. The data is also available to researchers who work in the area of eye disease and disorders of vision
If you are a child or a parent or guardian of a child with a vision impairment, between the ages of 0-18 years, you are invited to join the Australian Childhood Vision Impairment Register. Once a child has joined they will be offered membership to Oz-VisKids - a free club for children and parents to learn more about vision impairment and the services offered in Australia.
Some children with Down syndrome are already registered and anyone that it can potentially help is invited.
More information and online registrations is available here. Send an email to Jill Watson jill.watson@ridbc.org.au  or call (02) 9872 0303 for more details.

birth incidence of babies with DS increasing in UK, US

Frank Buckley, CEO of Down Syndrome Education International has commented on new figures published in the journal Pediatrics indicating a rising birth incidence of babies with Down syndrome by producing a clear comparative graph of statistics from the UK and the US, calling on policy makers to "take note!"

Prevalence of Down Syndrome Among Children and Adolescents in 10 Regions of the United States is published online in Pediatrics, the journal of the American Academy of Pediatrics, (Vol. 124 No. 6 December 2009, pp. 1565-1571 ). The researchers estimated prevalence of Down syndrome among children and adolescents up to 19 years, in 10 US regions. The birth incidence increased by just over 30% from 1979 to 2003.

Scotland on Sunday: opinion on UK research and media

This article from a Scottish Sunday paper was also prompted by the media response to the UK statistics released last week.

The upside of Down's
Dani Garavelli, Scotland on Sunday, 01 November 2009

Almost every day, I pass a little boy with Down's syndrome coming home from school.

As he bounces along the road, his face beaming, he is so cute I want to pick him up and take him home. At my local church, too, there are special masses in which adults with DS play a leading role. They are among the most moving services I've been to, perhaps because those involved throw themselves so unreservedly and so unselfconsciously into proceedings.

Of course, I realise these brief encounters give me no real insight into what it would be like to raise a child born with this condition. Moreover, harping on about how "loving" and "unaffected" people with DS are, is borderline offensive, suggesting as it does that they are a homogeneous mass rather than individuals with distinctive personalities like everyone else. Click here to read the whole article.

(Ed - I had to read the third last paragraph a couple of times to be sure what it said. A quick Google search showed that Claire Rayner's patronage of the Down's Syndrome Association (in London) was immediately terminated when she made the remarks referred to.)

From disbelief at Down diagnosis to joy and delight

Prompted by the media response to UK research published last week, the Sun-Herald investigated local statistics, and published this report today. It was accompanied by a delightful photoraph of Ian and Jo Smith with their children:

From disbelief at Down diagnosis to joy and delight
by Jessica Mahar, Sun-Herald (Sydney) 01/11/2009

Ian and Jo Smith knew their third child would have Down syndrome from the time Ms Smith was 15 weeks pregnant. A 12-week screening showed a one-in-six risk but the couple wanted to be sure.

When the result came back positive, Ms Smith, 43, could hardly believe the results. "I thought I was going to be sick, I had no idea how I was going to cope with it and I probably cried for three days and then I didn't cry any more. Then we just started our research."

Their daughter, Catherine Rose, was born three weeks ago.

"I went through that, feeling guilty about the impact it would have on my other children and who would look after Cate when we've gone," said Ms Smith, from Sydney's eastern suburbs.

"My five-year-old saw me crying a lot. He heard me saying the words Down syndrome so I told him his sister has got something called Down syndrome and it means she might take longer to do things and she might need more help from us."

The number of diagnoses of Down syndrome in NSW has increased as women have delayed motherhood.

But the number of babies born with the syndrome has dropped as prenatal screening has improved and more people have chosen to terminate their pregnancies.

In 1995, there were 140 diagnoses of Down syndrome and, of that number, 113 ( 81 per cent ) were born. The rest were either stillbirths, neonatal deaths or terminated.

Figures from 2005 reveal 211 cases, with 73 babies born (a 35 per cent birth rate).

A 20-year-old woman has a one in 1411 chance of having a baby born with Down syndrome. Ten years later, at 30, the risk rises to one in 959. At 40 it is one in 84 and at 45 it's one in 32.

Down Syndrome NSW information and services director Jill O'Connor said she was worried people didn't have enough time or information when they were told the news.

"We're not convinced that people are getting all the information that they might like to have when they are making these decisions," she said.

"We want them to know what Down syndrome is and we'd also like to see people not being made to make quick decisions."

Ms O'Connor has a 24-year-old son with the condition, who was diagnosed at birth. "Nearly every child who is diagnosed with Down syndrome is going to be a wanted baby," she said. "People are still being given very negative information and very often the assumption of health professionals and family professionals is if you have a diagnosis you will terminate."

Andrew McLennan from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists said screening had improved but it needed to be offered to all.

"This is all about choice," he said. "It's certainly not about running a program seeking to increase the terminations for abnormalities."


Genetics counsellor Mona Saleh, who works for the Centre for Genetics Education, said the statistics showed a change of demographics in prenatal testing.

"There are more people being screened now than 10 to 15 years ago," she said. "It was only older mothers who were being offered testing."

The Smiths say they would not have it any other way.

"We would not swap this journey," Ms Smith said. "I wouldn't even swap the Down syndrome because our family has just now come together.

"I don't even see the Down syndrome when I look at her. She's the joy of my life."

This information was presented in a table, highlighting the increased diagnoses and termination rate:

The 1995 birth rate of foetuses diagnosed with Down syndrome.
 140 cases of Down syndrome were diagnosed.
 113 babies were born with the disorder.
 27 terminated, stillborn or neonatal death (vast majority terminated)

The 2005 birth rate of foetuses diagnosed with Down syndrome.
 211 cases of Down syndrome were diagnosed.
 73 babies were born with the disorder.
 138 terminated, stillborn or neonatal death (vast majority terminated).
Source: NSW Mothers and Babies reports

Call for empathy for new families in reporting about births

The mother a little boy with Down syndrome was shocked to receive a copy of the notification of his birth in the post. NSW Health collects and publishes statistics on the numbers of babies born in NSW with a number of conditions (including Down syndrome).

Glenda Graban recognises the need to collect information in order to plan services, but she is lobbying for a change to the name of the register (currently called the Birth Defects Register) and to ensure that parents do not receive their copy of the notification unexpectedly in the mail. Her story is told by the Macarthur Chronicle here.

Down Syndrome NSW understands that most parents are not notified in this way, and joins Glenda Graban in calling for NSW Health to make sure that it does not. The national staticstics, collated by the Australian Institute for Health and Welfare, are published as the "Congenital Anomalies" report. We are interested in suggestions for a new name for the register, to take to NSW Health - should it be brought into line with the national report, for excample? Or can we do much better than that? Email info@dsansw.org.au with your thoughts.

NSW Mothers and Babies 2006: new report of birth incidence of babies with Down syndrome

NSW Mothers and Babies reports combine the annual reports of the NSW Midwives Data Collection and the NSW Birth Defects Register

A new volume has recently been published:

Mothers and Babies 2006 (New South Wales Public Health Bulletin Supplement Volume 20 Number S-1, March 2009 )

Chapter 11 is the Births Defects report for 2006. The page numbers below refer to the .pdf document page number (print document page number):

Figure 16, p148 (146): DOWN SYNDROME: CASES BY YEAR AND PREGNANCY OUTCOME, NSW 2000–2006

Table 146, p.141 (140): BIRTH DEFECTS AMONG STILLBIRTHS AND LIVE BIRTHS BY DIAGNOSTIC CATEGORY, NSW 2000 –2006

Table 151, p 145 (143): BIRTH DEFECTS AMONG SPONTANEOUS ABORTIONS, TERMINATIONS OF PREGNANCY AND UNKNOWN OUTCOME OF PREGNANCY BY DIAGNOSTIC CATEGORY, NSW 2000–2006

Table 152, p. 146 (144): SELECTED BIRTH DEFECT CASES BY YEAR, NSW 2000–2006

Cumulative figures on births of babies with Down syndrome date back to 1990, accesible via this link: NSW birth statistics from 1990 - 2005

And no, we don't like the title "Birth Defects" either.

How many? Current statistics about people with Down syndrome in NSW and Australia: last updated 29/10/2013

We receive regular enquiries about how many people with Down syndrome live in NSW, or Australia, and about the numbers of births. There are no really reliable current figures on prevalence (the number of people living in NSW at any given time). It is a challenge to calculate, because Down syndrome has only been a notifiable condition (at birth) for about ten years or so, and because we don't have reliable records of deaths. At the same time, life expectancy continues to increase, and has changed rapidly over a couple of generations - that makes the sums hard!

So estimates of prevalence are currently based on birth incidence and estimates about how many people live to each each age. We think that means there are probably about 6000 people with DS living in NSW, and around about 22,000 across Australia. If you think this is wrong, let us know what you think it should be, and how you got there.    See the editor's note below, from 29/10/2013

UPDATES

Edit 20/2/2013: 

NSW Mothers and Babies Reports 1996 - 2010 are currently individually linked from this NSW Health web page.

The earliest statistics accumulated are from 1990 (in the 1996 report) - some of the earlier statistics might not be particularly reliable. Notification procedures were improved from 1992. The reports are similar, but every now and again some extra data appears, such as the 2001 statistics which include a breakdown of terminations by the type of prenatal diagnostic procedure.

Edit 20/2/2013: 
National data are collated by the Australian Institute for Health and Welfare, which has published them online and in print from time to time, as Congenital Anomalies reports - but they are currently listed as 'not reported on' (February 2013).

The most recent AIHW data on the birth incidence of Down syndrome is a rate of 11:10,000 given as the rate of Down syndrome occurring among infants at birth 1998 - 2003, in the report, A picture of Australia's children 2009, Part ll: How healthy are Australia's children, p 11 - table of indicators. In Section 7, Congenital Anomalies, Table 7.1 (p 29) gives rates and numbers of babies born with Down syndrome in indigenous and non indigenous populations (no significant difference), and by geographical location with commentary on differences, and notes that termination because of Down syndrome occurred at more than twice the birth rate (25:10,000).

Should you be interested in predicting trends, have a look at the recent Danish study mentioned in this blog entry, reporting a 50% decrease in births with the implementation of a national prenatal screening strategy for all women that had a high uptake rate. We haven't seen that here yet, because we do not have a government funded national strategy for universally offered prenatal screening. In NSW, for example, NSW Health funds nuchal fold screening for public obstetric patients only, who are over 35, or have an "indicative history".

Edit 2/9/2013:
US population prevalence estimates (of the number of people with Down syndrome in the whole US population) have recently been revised down.  The title of Mark Leach's blog post about the new estimate is a little misleading, in that of course it was the previous estimates that were out, not that people with Down syndrome have actually 'gone', as he acknowledges.

GONE: 150,000 fewer people with Down syndrome in the U.S.Mark Leach, Down Syndrome Prenatal Testing, 26th August
The estimated number of people living with Down syndrome in the United States has been 400,000. This number has now been reduced by almost 40 percent. The number 400,000 was based on birth estimates: take whatever the birth estimate was, apply it as a percentage to total number of births and total number of lives, and 400,000 was the number that was arrived at. Last month, the Journal of Pediatrics published online a study that revises this estimate based on two key factors. The new study has already resulted in a revision on the Centers for Disease Control website, which lists the highlights.

Edit 29/10/2013:

Down Syndrome Australia has put together the fragmented information that currently exists to provide an evidence based estimate of the number of Australians with Down syndrome.

We believe the population to be over 13,000 and growing. As there is no national, state or territory register of Australians with Down syndrome (with the exception of the IDEA database in Western Australia) this number cannot be rigorously confirmed. However, Down Syndrome Australia is confident that our collation of what little data is available is accurate. You can read the summary here. 

Disability in Australia: intellectual disability (AIHW report)

The Australian Institute of Health and Welfare has released a new report today: Disability in Australia: intellectual disability

People with an intellectual disability represent a very significant client group of disability services in Australia, reflecting the priority given to this group and the origins of many disability services in Australia. This bulletin presents an overview of prevalence of intellectual disability and its related impairments, health conditions and activity limitations. The analyses focus on outcomes of participation in major life areas in children and young adults with intellectual disability as well as people ageing with intellectual disability.

Click on the link to view the media release and report.

Available from CanPrint for $10.00 (1300 889 873). AIHW catalogue number (AUS 110).