Down Syndrome: Soon to be a condition of the past?
WHAT ARE THE OPTIONS AS PARENTS? | WHAT DOES PRENATAL SCREENING INVOLVE?
Expectant parents are being offered more and more screening tests to detect Down Syndrome. Some take these tests to prepare for the future or to determine what sort of choice to make – continue with the pregnancy, adopt out or opt for termination. However, some parents feel they were pressured into terminating their pregnancies and were not give balanced information to make their own decisions.
WHAT IS DOWN SYNDROME?
Down Syndrome, also known as Trisomy 21 is a genetic disorder which is caused by abnormal cell division resulting in an extra copy of Chromosome 21. The severity of disability varies greatly but common to the condition are developmental and intellectual delays in addition to physical health issues and the distinct facial features which are typically associated with Down Syndrome.1 Worldwide, the condition affects 1 in every 700-900 live births – however the number of pregnancies the condition occurs in is much harder to calculate, as it is estimated that between 80-90% of parents who undergo prenatal testing and receive a diagnosis of Down Syndrome will terminate the pregnancy. 2,3
Down Syndrome is not a condition which can be cured however interventions such as treating accompanying congenital disorders such as hearing loss, vision loss, diabetes or heart valve problems, high quality inclusive education and allied health services such as psychological, occupational and speech therapies as well as physiotherapy, can have a significant impact on the level of disability and quality of life of those affected.4 A diagnosis, whether it be before or after birth can be daunting for parents as some people born with the condition can require a great deal of assistance and have severe intellectual disability that requires support and care for their whole life. Some parents feel that they are not able to care for a child with special needs or that the child might unnecessarily suffer due to the condition and its associated health complications. Most parents in Australia terminate the pregnancy if the condition is detected during prenatal tests.
However, many adults with Down Syndrome can live relatively independently and even those who can’t can still have a fulfilling life. Some people with Down Syndrome have intelligence in the normal range with minimal added health issues, and blanket termination is seen by many to be immoral.
WHAT IS PRENATAL TESTING?
Prenatal tests are done on a foetus prior to delivery. There are many types of prenatal screening available for Down Syndrome, routine ultrasound which may reveal structural abnormalities and defects, being the most common, as well as invasive diagnostic tests such as amniocentesis and chorionic villous sampling (CVS), which carry a risk to the pregnancy and the mother.
CVS is done in early pregnancy (around 12 weeks post menstrual age) and is done by sampling a small piece of the placenta and doing chromosomal analysis on it. It has the advantage of being able to be done early and hence termination offered earlier, with more time to think about the results prior to termination. Amniocentesis is performed by collecting amniotic fluid via a needle into the amniotic space. The fluid obtained will have cells from the foetus which can be tested for chromosome analysis. This carries a lower risk of miscarriage, but if termination is carried out requires the mother to deliver the infant vaginally, prior to 20 weeks’ gestation.5
However, there is a revolutionary new test now available. When a mother is pregnant a small amount of the baby's DNA circulates in her blood. This test known as NIPT (non-invasive prenatal blood test) can detect chromosomal abnormalities in the child but it costs between $500 to $1400. The test has an accuracy rate of 99% and there is no risk to the foetus.
A UNIQUE CASE – LOOKING AT ICELAND
Down Syndrome has become extremely rare in Iceland with only one or two children a year being born with the condition. In Australia, this figure is about 300. Iceland has a genetic screening program in place which is very affordable and is strongly advocated by health professionals with 4 out of 5 mothers opting to screen for genetic disease.6 Alongside the screening, there is extensive education due to its widespread nature from doctors as well as genetic counsellors. Close to 100% of the mothers who receive a positive test for trisomy 21 choose to terminate. 78The big question is whether the rest of the world will follow this insistent approach to genetic screening and continue to terminate positive pregnancies?
Many parents with a child with disability, and even those with disabilities themselves feel that medical professionals and society at large do not value the life of those with disabilities and pressuring parents to terminate is just a continuation of this view.
One mother reported that:
“I guess they didn't think my baby was worthy of life given his diagnosis. To this day, I am heartbroken by the whole experience".9
There is an increasing pressure for women to abort, coinciding with increasing availability of non-invasive testing with reports of mothers being repeatedly offered the option to terminate after they decided not to, in addition to very little information and prenatal care provided after a diagnosis or even enough information to make informed choices about undergoing the tests in the first place.10
Within the community, many feel that there is discrimination and lack of support when they choose to go ahead with pregnancy after a positive result for down syndrome or those who choose not to have testing despite being high risk. As Down Syndrome is easily recognisable in the community, families are blamed for having a child with it, rather than being supported.
SHOULD I UNDERGO PRENATAL TESTING?
It is great to know that these options are available for mothers - but the implications of these tests are important to consider – both in taking the test but also being prepared for the results.
Currently, many families feel that some doctors have a bias towards termination, hence the importance of Prenatal Genetic Counselling to provide a non-directive education about the options. However, this isn’t necessarily available across the country and at this stage a HGSA (Human Genetics Society of Australia) counselling session is not covered by Medicare. 11
Dr Jennifer Kromberg of the Queensland Clinical Genetics Service stresses the importance of these services for patients to make informed decisions, something which is not currently commonplace in Australia.
“Genetic Counsellors are being trained at post-graduate level to provide Genetic Counselling services in Australia. However, they are not yet recognised as a health profession and professional recognition and regulation are essential. Such regulation would contribute to the progression and much needed expansion of the profession, protect the public, and lead to the development of a standardised, high quality and ethical service.”12
This education is not in place currently and there is a lot at stake in terms of opting to undergo prenatal screening – the health of the foetus and the mother but also potential future implications for the child and their family – will parents need to revaluate their lifestyles? Can they afford ongoing therapy and medical treatments if required? What is best for the psychological wellbeing of the family and the child? Having to make this decision alone without the right unbiased support can put incredible strain on relationships and social and support networks.
LOOKING TO THE FUTURE
More than 200,000 babies have been born through IVF in Australia and New Zealand in the past 40 years’ decades, and this rate continues to grow. Typically, parents undergo IVF due to infertility or complications in past pregnancies, however more and more parents look to IVF to undergo Preimplantation Genetic Screening and/or Diagnosis, avoiding genetic conditions before the embryo is implanted allowing parents who have high risk genetic history to ensure a healthy child.12
Yet again, ethical dilemmas arise – is the life of a child with Down Syndrome who could lead a fulfilling life inherently less worthwhile than a child without the condition? These are the questions parents must consider, but at this stage the education isn’t even in place to make an informed decision.
1 Prenatal testing for Down syndrome - Fact Sheet. (2017). [ebook] Down Syndrome Australia. Available at: https:// www.downsyndrome.org.au/documents/resources/prenatal/DSA_prenatal_resource_updated_Nov_16.pdf [Accessed 10 Oct. 2017].
2 Prenatal screening and diagnostic tests. (2011). [ebook] Perth: WA Genetics Council Prenatal Diagnosis Committee. Available at: https://www.health.wa.gov.au/docreg/Education/Prevention/Genetics/HP3131_prenatal.pdf [Accessed 8 Oct. 2017].
3Natoli, J., Ackerman, D., McDermott, S. and Edwards, J. (2012). Prenatal diagnosis of Down syndrome: a systematic review of termination rates (1995-2011). Prenatal Diagnosis, 32(2), pp.142-153.
4 Nichd.nih.gov. (2017). Down Syndrome: Other FAQs. [online] Available at: https://www.nichd.nih.gov/health/topics/down/ conditioninfo/Pages/faqs.aspx [Accessed 4 Oct. 2017].
5 Womensultrasound.com.au. (2017). Chorion Villus Sampling and Amniocentesis Melbourne Australia | WUMe. [online] Available at: http://www.womensultrasound.com.au/chorion-villus-sampling-and-amniocentesis.html [Accessed 6 Oct. 2017].
6 BBC News. (2017). A world without Down's syndrome?. [online] Available at: http://www.bbc.com/news/magazine-37500189 [Accessed 12 Oct. 2017].
7 Quinones, J. and Lajka, A. (2017). "What kind of society do you want to live in?": Inside the country where Down syndrome is disappearing. [online] cbsnews.com. Available at: https://www.cbsnews.com/news/down-syndrome-iceland/ [Accessed 12 Oct. 2017].
8 Ryan, F. (2017). Whether to have a baby with Down’s syndrome – it’s not a simple choice | Frances Ryan. [online] The Guardian. Available at: https://www.theguardian.com/commentisfree/2016/oct/05/downs-syndrome-baby-disabled-child-aborting-foetus- abnormalities [Accessed 12 Oct. 2017].
9 ABC News. (2017). Parents feel pressured to terminate pregnancy after Down syndrome diagnosis. [online] Available at: http:// www.abc.net.au/news/2016-11-22/down-syndrome-parents-pressured-to-terminate-pregnancy/8033216 [Accessed 12 Oct. 2017]. 10 van den Berg, M., Timmermans, D., ten Kate, L., van Vugt, J. and van der Wal, G. (2005). Are pregnant women making informed choices about prenatal screening?. Genetics in Medicine, 7(5), pp.332-338.
11 Alrc.gov.au. (2017). Genetic counselling | ALRC. [online] Available at: https://www.alrc.gov.au/publications/23-genetic- counselling-and-medical-education/genetic-counselling [Accessed 12 Oct. 2017].
12 Ivf.com.au. (2017). Pre-implantation Genetic Testing | IVF Australia. [online] Available at: https://www.ivf.com.au/fertility- treatment/genetic-testing-pgt [Accessed 12 Oct. 2017].