UNDER ATTACK

Is the Down syndrome community under threat?

New Zealand is on the cusp of introducing more advanced antenatal testing for Down syndrome. COEN LAMMERS investigates if the Down syndrome community should feel under attack and looks at the ethical, medical and social issues at the heart of this debate.

Pre-natal screening for Down syndrome and other genetic disorders has long been a contentious issue in New Zealand and abroad.

The introduction of more sophisticated and conclusive testing methods has increased termination rates and triggered a global debate around screening ethics, the value of a life with a disability and state-sponsored elimination of Down syndrome.

In some European countries, babies with Down syndrome have become a rarity.

Iceland has reportedly reached a 100% termination rate, closely followed by Denmark where in 2017 only four new babies were born with Down syndrome.
Whether you agree with the abortion policies in those countries or not, the undeniable fact is that in many countries young people with Down syndrome will soon become an uncommon sight, or worse, an unwanted anomaly.

A striking example of the growing sentiment that Down syndrome is a burden that some societies can do without, was highlighted last year in the Netherlands where some media commentators debated whether Dutch women had a moral duty to abort their babies with Down syndrome.

Their comments were based on a list published by the Dutch Ministry of Health of the most expensive diseases and conditions which rated Down syndrome as the most expensive condition to the tax payer.

This list and the articles were widely discredited, challenged and condemned as biased because it conveniently ignored major health areas like cancer.
This discussion triggered one Dutch physician to tweet that “We haven’t come this close to Nazi before,” referring to the systematic extermination of disabled people in Nazi Germany.

This quote may sound dramatic, but the overseas trends and policies in some of these so-called enlightened and modern societies have caused strong concerns in the global Down syndrome community about the value their own society puts on a life with Down syndrome.

Unfortunately, as they are introducing more effective screening programmes, most countries have not had a wide public discussion around this sensitive issue.
Statistics from the United Kingdom show that the termination rate of women who have had a positive screening test, has not changed over the past few decades and remains around a staggering 90%.

What has changed with the introduction of more sophisticated tests, is the actual number of positive tests and subsequent abortions in the UK, increasing from 482 in 2010 to 706 in 2016.

This year the National Health Service in the UK is rolling out the Non-Invasive Prenatal Testing (NIPT) which gives women a near conclusive result on whether their baby will have Down syndrome.

Some critics in the UK have argued against the introduction of the test, fearing Icelandic statistics.

The NIPT test is not yet widely available in New Zealand and Dr Jane O’Hallahan, Clinical Director of the National Screening Unit, says that a slower uptake can in this instance give New Zealand an advantage and the opportunity to have a debate on how to introduce the test in a responsible manner.

“We need to tread very carefully around the ethics and the management of introducing this test in New Zealand,” says Dr O’Hallahan.

The NIPT is already privately available in New Zealand but Dr O’Hallahan says that the Ministry of Health is likely to make the test available, initially for women with a higher chance of having a baby with Down syndrome or other genetic disorders.

Dr O’Hallahan understands why the overseas statistics cause concern in the New Zealand Down syndrome community and is adamant that the Ministry of Health does not share the views of their European counterparts.

“There is no agenda to terminate lives with Down syndrome.”

Unfortunately, the Ministry of Health does not keep any records on positive tests for Down syndrome and terminations.

Dr O’Hallahan says that roughly the same number of children with Down syndrome have been born in New Zealand in recent years and from that she concludes that improved testing has not triggered a rise in terminations.

The National Screening Unit has created a working group of stakeholders to look at ways of improving informed choice for all ethnicities. This working group includes New Zealand Down Syndrome Association National Executive Zandra Vaccarino and board member Kim Porthouse.

Dr O’Hallahan says these stakeholders are providing valuable insights, beyond the medical discussions.

Mrs Porthouse says that the NZDSA wants the medical sector to understand that the screening debate is a social issue, not just a medical issue. “And the social implications need to be part of these discussions.”

She has an interesting perspective as a midwife and a mother of a son with Down syndrome and feels that there are two specific issues at stake in the screening discussions.
In her view, the pregnant women firstly need to be better informed before they decide to have any tests at all, and if they receive a positive test, the women need to get more balanced information about Down syndrome.

Mrs Porthouse says that most women think the tests are standard and don’t really consider the impact the results can have and the sudden life-changing decisions they may be facing.

“People think they are just going to take a picture when they get their first scan,” says Mrs Porthouse who feels that pregnant women should be better informed that the reason for the 12-week scan is for an NT (Nuchal Translucency) scan as part of the MSS1 (Maternal Serum Screening) screen.

The Ministry of Health has produced a brochure on Screening for Down syndrome, which clearly spells out the options and the choices women have, but Mrs Porthouse doubts if the brochure is used widely at present.

“Women should be offered the option to take this away to read through before deciding to screen, but often due to timing, most decide at the initial booking appointment.”
If they undertake the screening and it detects a higher risk or chance of Down syndrome, the families are forced to make quick, big decisions.

They need to make a call on having an amniocentesis, which carries a small risk of losing the baby, or in some centres they may be offered the NIPT test, which is expensive. They also need to consider what impact a baby with Down syndrome may have on their lives.

If the additional more-conclusive testing indicates the baby has Down syndrome, the medical provider will explain what Down syndrome is, but in most cases this talk will merely feature a long list of medical conditions the child may or may not develop during their lives.

“The doctors will cover themselves for everything, even if there is just a minimal chance the child will ever have those issues,” says Mrs Porthouse. Mrs Porthouse says the women are not being counselled on the wider social issue and positive impact a child with Down syndrome could have on their lives and community. “These families need to get the chance to talk to parents who are living with Down syndrome or other people who have faced the same decision.”

Instead, she is aware of anecdotal evidence that women often feel pressured to terminate their pregnancy. “It is a very emotional time for the families and it is hard to think clearly, so if you are only presented with a long list of all the things that can go wrong with your child, it is not hard to see that people opt for termination. “In many cases, it can be a decision they regret,” says Mrs Porthouse who personally knows of parents who after termination have struggled with their decision. “In some cases, the people get to know more about Down syndrome or get to know someone and they find out it was not at all what the doctors had made them believe. For some it has been devastating.”

Dr Jane O’Hallahan is aware of the cases in which women feel pressured to terminate their pregnancy. “But we don’t know how widespread this, but there should be no pressure.”
The Clinical Director of the National Screening Unit says that the Ministry of Health is aware of the issues and is continuously improving information going to women. “However the introduction of NIPT in the future will require an overhaul of the informed choice process to enable women to make the right decision for them and their families,” says Dr O’Hallahan, who admits that her colleagues often portray a future with Down syndrome in a negative light.

Dr O’Hallahan says that the information provided is “over-medicalised” and is not a social discussion. “It does not consider the value of people with Down syndrome or the fact that these people add value to so many lives of others.”

As an example, the Director mentions her own daughter who had the privilege of following a family with a newborn with Down Syndrome during her medical studies – a lovely experience that would benefit all medical students.

Dr O’Hallahan says that the feedback from the NZDSA and other stakeholders on the working group had been valuable to show the social side of Down syndrome and that the National Screening Unit is more focused on counselling and providing better education for medical professionals and medical students about Down syndrome. “We are currently putting a lot of effort into giving more holistic information to give a real picture of what life with Down Syndrome is like. We are investing to give women the right information, so they can make the right decision for them and their family.”

 

ANTENATAL SCREENING

What are all the tests and what do they mean.

NT scan: Nuchal Translucency ultrasound scan performed around 12 weeks (range 11 weeks to 13 weeks, 6 days). It measures the fluid in the nuchal space at the back of the foetal neck. The old test used to combine just the scan with maternal age to give a risk of Down syndrome. Risk results are no longer provided on NT scan alone as they are less accurate compared to MSS1 or MSS2 screens. The NT scan is now only used in conjunction with the MSS1 calculation.

MSS1 screen: Maternal Serum Screening (combined blood test – 2 markers – and NT scan) performed in the first trimester of pregnancy until 13 weeks 6 days gestation. Current government funded screen, offered to all women who engage with antenatal care in the first trimester.

MSS2 screen: Maternal Serum Screening (4 marker blood test, no scan) performed between 14 weeks to 20 weeks gestation. Accuracy levels are said to be about the same as MSS1 screen, offered to all women who engaged with services too late for MSS1 screening or those who prefer not to have ultrasound scans of their pregnancy. Government funded.

NIPT (or NIPS) test: Non-Invasive Prenatal Screening. Blood test only (new blood test which is different to MSS1), is said to be 99+% accuracy. Currently not government funded in New Zealand and expensive.

Amniocentesis: diagnostic test in which a needle under ultrasound guidance is used to draw fluid from around the foetus. This fluid contains foetal cells which are used to look at chromosomes to see if Trisomy 21 (Down Syndrome) exists. Carries a risk of miscarriage of 0.5 to 1.0% (1:100 – 1:200).

Thanks to routine testing, parents are often well aware of whether their child has a high chance of Down syndrome. New Zealand Herald reporter Emily Winstanley looked at how three families handled the news.

Auckland parents Kirsten McDonald and Philip Venables found out their unborn baby could have Down syndrome after the 12-week screening offered to all expectant mothers in New Zealand. They decided to find out for sure with an amniocentesis test.

McDonald says the doctor who delivered the news asked her to look at the piece of paper with her name and the result, confirming their child had Down syndrome. “Then [her] next words were, ‘You’re going to have a beautiful baby boy.’ That still stays with me, those words from her. She just reminded us that first and foremost, we were going to have a beautiful baby boy, rather than saying, ‘Oh I’m really sorry’ or even words like ‘but’.”

Thirteen weeks later, baby Joshua was born.

At 39, McDonald knew her age would increase her baby’s chance of chromosomal abnormalities like Down syndrome, but when she had the 12-week test, the chance showed at one in 80. They’d decided to delay the amniocentesis until she was 25 weeks, because for them, it wasn’t a question of whether to continue with the pregnancy, but of wanting to prepare themselves.

“Every time we had a scan we were told the risk had increased. We just needed to know so I could enjoy my pregnancy, rather than spend the next 15 weeks being stressed.”
The test was conclusive, so they met with families of children with Down syndrome, and did plenty of research.

“By the time I had Joshua we were just so ready to meet him and not have this abstract diagnosis of Down syndrome. We just wanted to meet our boy. There was no shock or worry or trauma. It does have an impact on him and I wouldn’t change him for the world. If we could take away the Down syndrome, no way, that’s what makes Joshua who he is.”

But like many parents of children with Down syndrome, McDonald is concerned about the way the diagnosis is presented to families.

“I don’t have anything to say against testing because it prepared me for the birth of my child. I guess what I have an issue with is what information people are given when they are encouraged to have a test and when they get the diagnosis. Most of it is about everything that could be ‘wrong’ with our children. Imagine if we did that with every diagnosis. I think everyone has a right to have a test and a right to make their own decision, but it’s about information.”

And that’s certainly the view of the Down Syndrome Association. National executive officer Zandra Vaccarino wants families facing a diagnosis to be put in touch with people with Down syndrome and their families. “There’s a lot of information given from a medical perspective, like what screening is, and the options around termination. But they do not get information from the social perspective. So if someone’s never met someone with Down syndrome, and read a book 20 years ago, that will be the knowledge they hold. Every year, quality of life for people with Down syndrome changes as they’re included more in the community, and that information isn’t always shared. People with Down syndrome are moving the goalposts all the time.”

Vaccarino also wants better training for the medical professionals. She says what she’s hearing from people in the community, is some families feel they’ve been pressured to terminate as a result of a Down syndrome diagnosis.

Peter Stone is Professor of Maternal and Fetal Medicine at the University of Auckland, and a representative on the National Screening Unit Advisory Group, which oversees antenatal testing. He disagrees with the idea that there is pressure or coercion of women to make a particular choice. “The screening is based around reproductive choice. The majority of women, whatever they decide, want to know what is going on in their pregnancy.”

Twelve-week testing, also called “first trimester combined screening”, takes into account an ultrasound scan, a blood test, and other factors like a mother’s weight and whether she smokes. It gives a specific chance of the baby having Down syndrome or one of a handful of rarer chromosomal abnormalities. If the test shows an increased chance of Down syndrome, one in 300 or less, parents are offered further diagnostic testing — the amniocentesis, or less often chorionic villus sampling.

It’s hard to work out exactly how many women choose to terminate once a diagnosis of Down syndrome is given. Stone says in New Zealand, about two-thirds of women who are given a high chance of Down syndrome and other chromosomal disorders will have diagnostic tests done. In 2015, that was 655 women.

Of those who have a diagnosis confirmed, he says about two-thirds again will choose not to continue with the pregnancy. The Abortion Supervisory Committee doesn’t keep information on the specific reason for an abortion, so it’s impossible to know the exact number. Stone says the termination rate in New Zealand is much lower than in other Western countries — for example, Denmark. “I think this suggests there’s no evidence of pressure or coercion to have a termination.”

Iceland and Denmark are often highlighted as extreme cases, where nearly 100 per cent of pregnancies involving a Down syndrome diagnosis are terminated. In England and Wales it’s roughly 90 per cent. In the United States, the rate is similar to New Zealand’s.

One parent who chose not to continue their pregnancy after the diagnosis is Jess (not her real name).

After trying to conceive for two years, then a miscarriage, she and her partner were thrilled to become pregnant again. Then came the news they faced a one-in-five chance of the baby having Down syndrome, which was confirmed with diagnostic testing.

Jess was in her 40s when they conceived, and, as a medical specialist, was well aware of the higher risk that posed. Before testing, she was sure in the case of Down syndrome, her decision would be to terminate. But in reality, she says making the decision was probably the worst thing she and her partner have ever been through.

“It took us weeks to decide, and I wondered if it might break us up at one point. We went to counselling with the social workers at the hospital, we had a couple of sessions with them really going through what are our hopes and fears and our real core beliefs. I think we came to a place of support for each other. In the end, I felt termination was the only way forward.”

She didn’t feel any pressure to terminate, “I almost felt pressure the other way, but I think that’s just personal circumstance.”

In the end, Jess opted to be induced at 17 weeks. “I felt like I wanted to meet my son, I wanted to be able to bury him and mourn him, so I went through the induction and that was pretty horrible.” She’s since had another child, who she calls her ‘rainbow baby’.

Two years on, Jess knows it was the right choice for her family. “It’s something that comes back to me often, but I’ve made peace with the fact it was the right decision.”

World Down Syndrome Day saw many people celebrating what those with the syndrome can contribute to their community. For others, it was a chance to advocate against antenatal testing, with some saying the syndrome is being tested out of existence. But doctors point out that can’t happen altogether, because many mothers choose not to screen at all. In New Zealand, 20 per cent of pregnancies aren’t screened, by circumstance or by choice. And then, even when the chance is calculated to be extremely low, it’s still a chance nonetheless.

Charlotte Ammundsen was 24 when she became pregnant, and her combined testing showed a chance of just one in 12,000. Then, when her now 1-year-old daughter Hayley was born, she immediately thought something wasn’t quite right.

“In all honesty I didn’t immediately think Down syndrome, but I felt like something was a bit off. The midwife was looking at me and she said I see you’ve picked up on something. We think there are certainly signs of Down syndrome.” That diagnosis was quickly confirmed.

Ammundsen’s in two minds about whether it would have been easier to have known ahead of time. “It would have been so wonderful to properly enjoy the first week, because she was in NICU for three days, and everything combined was overwhelming. Also, the community is amazing, so to be part of that earlier would have been awesome. On the other hand, I’m glad I didn’t have that conversation with doctors about all the bad stuff. It’s not that scary, she’s the best thing that’s happened to me.”

Copyright Canvas/New Zealand Herald