Dear Mary,
Many thanks for your enquiry concerning Edward’s syndrome, and the
Members debate that took place last month.
Ultimately, the delivery of services to babies with Edward’s syndrome and
their parents are a matter for each NHS Board. However, I have pulled
together a range of information, including some from the debate itself, which
details some of the relevant work being undertaken in this area.
As you noted in your enquiry, the motion and the subsequent debate (col
14748-14759) included discussion of palliative care services, but it also
touched on screening for Edward’s Syndrome during pregnancy and
bereavement services, amongst other topics, all of which I will cover below.
Edward’s syndrome
As noted on the NHS Choices website, Edward's syndrome, also known
as trisomy 18, is a genetic condition which disrupts the baby's normal
course of development. As regards incidence, I have seen a couple of figures
quoted. The NHS Choices website refers to Edward's syndrome affecting
around 1 in 3,000-5,000 live births. However, in the debate and on several
other websites, I have seen reference to 1 in 6,000 live births. The chance of
having a baby with the syndrome increases with age.
The majority of foetuses with the syndrome die before birth. Of those that are
born, NHS Choices notes that a third of these will die within a month of birth
because of life-threatening medical problems. Only 5-10% of babies with full
Edward's syndrome survives beyond one year, and will live with severe
disabilities.
There is no cure for Edward's syndrome and the symptoms can be very
difficult to manage. Children with the condition may benefit from
physiotherapy and occupational therapy, if limb abnormalities affect their
movements. They may also require to be fed through a feeding tube.
The NHS Choices webpage provides more information on the condition, its
various types and symptoms.
Testing for Edward’s syndrome
The leaflet on the syndrome produced by the Scottish Genetics Education
Network (SGGEN), notes that the syndrome can be detected through an ultrasound scan. It describes the physical abnormalities that can be picked up in
the scan that would indicate the foetus has the syndrome. I understand these
checks would happen during the ultrasound foetal anomaly scan, which takes
place between 18-20 weeks. NHS Choices suggests that this scan can pick
up the signs that a baby may have Edward's syndrome in 90% of cases.
However, the diagnosis is confirmed using either chorionic villus sampling
(CVS) or amniocentesis. These are invasive tests carried out during
pregnancy to detect whether the unborn baby could develop, or has
developed, an abnormality or serious health condition.
In the debate the experience of one couple in particular was described, and
how, in their case, Edward’s syndrome was only confirmed at 31 weeks. This
was felt to be too late in the pregnancy (col 14749). In responding to the
debate, the Minister for Public Health stated:
“Through the current antenatal screening programme that is offered
to pregnant women, the majority of cases with Edwards’s
syndrome will be detected halfway through pregnancy. A number of
members have referred to the importance of early diagnosis. It may
be helpful if I point out that the United Kingdom National Screening
Committee is considering specific screening for Edwards syndrome
and Patau syndrome in the first trimester. We expect to receive the
conclusions of that work by spring next year; we will then consider
how to take that forward as national policy.” (col 14756)
Palliative Care Pathway
As noted above, those babies born with Edward’s syndrome are likely to have
a short life, and in the debate there was much discussion about the care and
support needed by the babies and their families.
During the debate (e.g. col 14749-14750), reference was made to the
development of a care pathway for the delivery of care and support for babies
who have life-limiting conditions. This is being undertaken through the
Perinatal Palliative Care Framework Managed Clinical Network (South East
Scotland).
As you will see the draft Framework aims to ensure that there are recognised
pathways of palliative care for a baby within and between foetal medicine,
maternity, neonatal units and other services for every baby who has a lifelimiting/life-threatening condition. It recommends a range of key goals and
standards that should be achieved to deliver care. It also describes key
training required and potential process to audit the standards. The
Framework takes into account two documents:


British Association of Perinatal Medicine (2010) Palliative care (supportive
and end-of life care) A Framework for Clinical Practice in Perinatal
Medicine
ACT (now Together For Short Lives) (2009) A Neonatal Pathway for
Babies with Palliative Care Needs
During the debate (col 14750) it was noted that this draft Framework had
been put out to consultation, with a view to refining it by the end of January
2013. Thereafter, it is hoped that the pathway will be accepted as a pathway
across all three managed clinical neonatal networks in Scotland and that it will
be presented to the Scottish Children and Young People’s Palliative Care
Executive.
Other palliative care developments
In response to the debate, the Minister for Public Health (col 14757-14758),
though not discussing the draft care pathway outlined above, made note of a
number of other developments.
Neonatal care quality framework
In 2010 the Scottish Government set up the Neonatal Expert Advisory Group
to devise standards for neonatal services. During the debate, the Minister for
Public Health stated:
“Through our neonatal quality framework, which will be published
soon, neonatal services will be required to provide evidence of
person-centred care, including palliative care. Families, including
siblings, should be offered access to communication, information
and advocacy services, including referrals for counselling and
bereavement support. That is intended to support them in their
participation around discussions, clinical care decisions, palliative
care planning and end-of-life care, if that is required. Such planning
should also take account of families’ cultural and religious
preferences, needs and values. Palliative care planning and endof-life decisions should be made in partnership with professionals
and parents, and care should be provided in an appropriate
environment, whether that is a hospice or a home setting.” (col
14757).
Framework for palliative care
‘A Framework for the Delivery of Palliative Care for Children and Young
People in Scotland’, was developed by the Scottish Children and Young
People’s Palliative Care Executive Group and published in November 2012.
The Framework aims to ensure that there are recognised pathways for
palliative care within and between NHS Boards for every child and young
person from the point of diagnosis of a life-limiting condition or life-threatening
condition, through to living with their conditions until the end of their life. It
contains a number of recommendations, with five overarching objectives:
1. Each Health Board should clearly identify lead professionals with overall
responsibility for delivering children and young people’s palliative care
services.
2. Children and young people’s palliative care services should be planned
and developed on the basis of incidence and prevalence in each Health
Board area.
3. All children and young people should have equitable access to palliative
care which is flexible, planned and person centred and takes account of
their physical, emotional and spiritual needs.
4. All children and young people should be cared for and die in their
preferred place.
5. All children and young people with palliative care needs will receive safe,
effective and person centred care delivered efficiently and on time by a
trained and competent workforce adopting a GIRFEC (Getting it Right for
Every Child) approach.
In his response to the debate the Minister for Public Health stated that these
five objectives had been:
“…highlighted to all chief executives of NHS boards in Scotland. In
advancing those outcomes, they will deliver the palliative care
services that children and young people need. I expect all boards
to implement the outcomes as a matter of priority.” (col 14758)
MCN for children with exceptional health needs
In addition, the Minister for Public Health made reference to the National
Managed Clinical Network for Children with Exceptional Healthcare Needs.
This was set up in 2009 with the aim of strengthening services for this group.
Parents/carers, voluntary sector organisations and professionals are invited to
join the network and attend working group meetings and events. There are
currently over 1500 people involved in the network. The Minister for Public
Health stated that this Network allows the sharing of good practice across
Scotland and to agree pathways of care. He felt this should help practitioners
to support children with such needs.
Bereavement care
How bereavement care is delivered is a matter for NHS Boards, but during the
debate, there was some mention of the Scottish Government’s guidance
‘Shaping Bereavement Care – A Framework for Action’ (February 2011). This
was based on a report from a multi-disciplinary group. It sets out a range of
recommendations. During the debate the Minister for Public Health said that
the framework:
“…sets out a framework of action for boards and recognises the
need for better co-ordination and understanding of the needs of
people who are bereaved. A national bereavement pack and
information leaflet were developed to support health boards in
implementing the guidance, and the series of modules that have
been rolled out to help to raise awareness and provide further
support for staff include a specific module on the death of a child.”
(col 14758).
Voluntary sector support
During debate, two organisations in particular were discussed in relation
to support for babies with Edward’s syndrome and their families. The
first was Soft UK. This is a UK wide charity which aims to help those
with Edward’s syndrome and other related disorders. It contains a range
of information that you may find useful. The second was the Children’s
Hospice Association Scotland, which is the only charity in the country
that provides hospice services for children and young g people. In
addition to these, the Together for Short Lives charity contains a range
of resources for families and professionals in relation to palliative care
for children and young people.
I hope this information is useful. Should you require any further information,
please do not hesitate to contact me.
Regards.
Jude Payne
Senior Research Specialist – Health and Social Care
SPICe
Direct Dial Tel: 0131 348 5364
RNID Typetalk 18001 0131 348 5364
Fax: 0131 348 5050
Email: spice@scottish.parliament.uk
SPICe enquiry number: 85300