297 Luck at Last Rd RD2, Cambridge 3494 Ph : 07-827 2278 Mob : 027 878 7584 1 April 2012 Jane McEntee Manager Antenatal and Newborn Screening National Screening Unit National Health Board Dear Jane, Guidelines for health practitioners offering antenatal screening for Down Syndrome and other conditions: Consultation Draft March 2012. The Spina Bifida Association of New Zealand wishes to thank the NSU for the opportunity to provide feedback on the above document. BACKGROUND Although antenatal diagnostics techniques were initially described in the nineteenth century, it was not until the middle of the 20 th century that the techniques were applied to manage various genetic disorders and congenital malformations. Two main methods of detection are used to screen for neural tube defects (NTD) – ultrasonography and AFP testing. The use of ultrasound to detect foetal abnormalities began in the late 1960’s. The first NTD detected was a 17 week old baby diagnosed with anencephaly in 1972. Spina Bifida was first diagnosed using ultrasound in 1975. Maternal serum alpha fetoprotein (AFP) measurement has been used as an antenatal screening test for open Neural Tube Defects since the 1970’s 1 when prenatal screening technologies were in their infancy. These technologies were swiftly harnessed to uncover and prevent Spina Bifida. They were seen as a significant step forward in identifying abnormal babies and as a tool to facilitate pregnancy termination 2 . The Lancet reported that “the finding that AFP levels are often raised in maternal blood in association with neural tube defect of the foetus is an important advance in obstetric practice since it presents the possibility of a screening programme leading to early diagnosis and termination of these abnormal pregnancies” 3 . The pioneers of AFP screening, Brock and Sutcliffe are 1 Wald NJ, Hackshaw AK, George LM : Assay precision of serum alpha fetoprotein in antenatal screening for neural tube defects and Down’s syndrome. 2 Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007 September; 33(9):501-507 3 Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007 September; 33(9):501-507
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297 Luck at Last Rd RD2, Cambridge 3494
Ph : 07-827 2278 Mob : 027 878 7584
1 April 2012
Jane McEntee
Manager Antenatal and Newborn Screening
National Screening Unit
National Health Board
Dear Jane,
Guidelines for health practitioners offering antenatal screening for Down Syndrome and other
conditions: Consultation Draft March 2012.
The Spina Bifida Association of New Zealand wishes to thank the NSU for the opportunity to provide
feedback on the above document.
BACKGROUND Although antenatal diagnostics techniques were initially described in the nineteenth century, it was
not until the middle of the 20th century that the techniques were applied to manage various genetic
disorders and congenital malformations. Two main methods of detection are used to screen for
neural tube defects (NTD) – ultrasonography and AFP testing. The use of ultrasound to detect foetal
abnormalities began in the late 1960’s. The first NTD detected was a 17 week old baby diagnosed
with anencephaly in 1972. Spina Bifida was first diagnosed using ultrasound in 1975. Maternal serum
alpha fetoprotein (AFP) measurement has been used as an antenatal screening test for open Neural
Tube Defects since the 1970’s1 when prenatal screening technologies were in their infancy. These
technologies were swiftly harnessed to uncover and prevent Spina Bifida. They were seen as a
significant step forward in identifying abnormal babies and as a tool to facilitate pregnancy
termination2. The Lancet reported that “the finding that AFP levels are often raised in maternal
blood in association with neural tube defect of the foetus is an important advance in obstetric
practice since it presents the possibility of a screening programme leading to early diagnosis and
termination of these abnormal pregnancies”3. The pioneers of AFP screening, Brock and Sutcliffe are
1 Wald NJ, Hackshaw AK, George LM : Assay precision of serum alpha fetoprotein in antenatal screening for
neural tube defects and Down’s syndrome. 2 Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007
September; 33(9):501-507 3 Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007
September; 33(9):501-507
recorded in the Lancet stating that their screening tool would allow for the termination of those
diagnosed with anencephaly and spina bifida :
A marker molecule, which indicates an affected foetus early enough to allow termination
of pregnancy, has so far not been found. We suggest that AFP could act as such a marker
molecule.
The accepted coupling of “affected” pregnancies and “termination” as recorded by Brock and
Sutcliffe enabled a clear distinction to be made between abnormal and normal babies in order to
facilitate the termination of the abnormal. The idea that abnormality only leads to termination has
become embedded in medical practice and notions of progress that no discussion about therapeutic
options or choices are encouraged. Some would say that medicine has overstepped its boundaries
and crossed into social engineering.
The rise of screening for Spina Bifida came at a time when child mortality rates were falling
dramatically and fertility rates fluctuated as a result of family planning and increased use of the
contraceptive pill. When it was noticed that more than a quarter of all deaths in the first year of life
were due to foetal abnormalities, scientists were alarmed and parents sought a ‘remedy’ for the
‘problem’. Medical intervention experienced by expectant parents shifted from preventing mortality
at childbirth to uncovering abnormality prior to childbirth. The justification for introducing prenatal
screening for Spina Bifida is grounded historically on terms such as ‘prevention’, ‘efficacy’ and
‘benefit’ (ie. prevention of costs incurred in the care of children born with Spina Bifida). An implicit
link between diagnosis and prevention, abnormality and termination exists. There is always a
validation for advances in medicine by an appeal, either implicit or explicit to its rational and social
value. This statement is true of a prenatal screening for detecting neural tube defects and
subsequent prevention of Spina Bifida births which is seen to be justified as a direct result of
balancing efficacy, benefits to population health and economic considerations.
A screening programme was in place by 1977 for women who were at 16 and 20 weeks gestation
(optimum screening time between 16-18 weeks4). At 16-18 weeks gestation, 88% of anencephaly,
79% of open Spina Bifida and 3% of unaffected singleton pregnancies (false positive result) had AFP
levels above the normal median. Data from the UK indicates that there is a 1 in 20 chance of having
a baby with open Spina Bifida. The risk of having any NTD is approximately 1 in 105. The screening
programme began with maternal testing of blood serum for AFP levels, followed by ultrasound and
amniocentesis for screening amniotic fluid. It is estimated that, had the AFP programme not been in
place, the level of sensitivity achieved for Spina Bifida by ultrasound and amniocentesis would have
been 62% compared with 76% with the programme in place – an increase of nearly 15%6. Those
mothers deemed ‘ at risk’ of giving birth to a baby with Spina Bifida underwent amniocentesis
4 Quest Diagnostics : Prenatal screening and Diagnosis of Neural Tube Defects, Down Syndrome, and Trisomy 18 http://www.questdiagnostics.com/testcenter/testguide.action 5 Wald NJ et al Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of U.K collaborative study on alpha-fetoprotein in relation to neural tube defects. Lancet 1977 Jun 25;1(8026):1323-32 6 Chan, A., Robertson, E.F., Haan, E.A., Ranieri, E and Keane, R.J. (1995), The sensitivity of ultrasound and
serum alpha-fetoprotein in population-based antenatal screening for neural tube defects, South Australia 1986-1991. BJOG : An International Journal of Obstetrics & Gynacology, 102:370-376. Doi: 10.1111/j.1471-0528.1995.tb11287.x
without blood serum screening, with a termination that could be speedily arranged. Ultrasound
technology used by maternal foetal specialists in the second trimester has a 97% detection rate for
NTDs7.
In the late 1970’s and early 1980’s the prevalence of NTDs in New Zealand was close to 2/1000. As
methods of prenatal screening and diagnosis have improved, the rate since then has fallen to 1/1000
with most pregnancies affected by NTDs being diagnosed prenatally and terminated8. This pattern of
live-birth reduction has been demonstrated in many other countries where antenatal screening
programmes operate as a direct result of firstly legalizing pregnancy termination then selectively
terminating affected babies after antenatal screening9. In countries operating ultrasound screening
programmes there are high detection rates and high pregnancy termination rates for NTD affected
pregnancies10. The worldwide incidence ranges from 0.17/1000 to 6.39/1000 live-births11.
ANTENATAL SCREENING & DIAGNOSIS PROGRAMMES: IMPACT ON SPINA BIFIDA BIRTHS Antenatal screening has been described as ‘anticipatory medicine’, speculating on the possibility of
risk, identifying pregnancies that are at sufficient risk for open NTDs to warrant genetic counselling
and the offer of additional testing such as ultrasound and amniocentesis12. It has become one of the
most routine procedures in maternal healthcare, referred to as ‘recommended’, ‘essential’,
‘advised’, ’important’, ‘sensible’ and ‘routine’. It sprang from the medicalisation of pregnancy and
childbirth, technological advances and conceptions of disability for conditions which were able to be
detected but not cured. On the face of it screening techniques were devised to help people, enabling
parents to plan their future family knowledgeably but since its emergence, pregnancy has been
treated almost as a disease. The mystification of prenatal genetic testing obscures not only its
process but also its purpose. Hidden in vague language and unspecified ‘best practice’ marketing, its
activity, results and goals are not always obvious to public opinion or indeed to parents’ consent13.
The interests of women may not have been primarily in mind when these techniques were
developed, nor are they applied to further the interests of women who have accepted their role as
patients in need of medical help. The availability of antenatal screening and diagnostic testing has
changed the experience of pregnancy, creating a need for reassurance from ‘genetic anxiety’ where
parents are driven by fear of having defective, socially unacceptable children. Prior to the advent of
screening, a baby was assumed to be healthy, unless there was evidence to the contrary. Now the
balance has shifted towards having to ‘prove’ the health or normality of a baby.
7 Wikipedia : Prenatal diagnosis http://en.wikipedia.org/wiki/Prenatal_diagnosis 8 Carol Bower : Fortification of food with folic acid and the prevention of neural tube defects NZ Med J 2003; Vol 116 No 1168 9 Screening Brief : Antenatal screening for neural tube defects J Med Screen 1998; 5:167 10
Cameron M, Moran P Prenatal screening and diagnosis of neural tube defects Prenat Diagn. 2009 Apr;29(4):402-11 11
Lazareff Jorge A : Neural Tube Defects, World Scientific 2011 pg 31 12
Bradley LA et al Technical standards and guidelines : Prenatal screening for open neural tube defects ACMG Standards and Guidelines May/June 2005 Vol 7 No 5 13 Little D Issues in Prenatal Testing 2012, Address given to Family Life International Conference 27 Jan 2012
Antenatal Screening and subsequent prenatal diagnosis test for diseases or conditions in an embryo
or unborn baby prior to birth14. The Dutch Health Council report on genetic screening defines a
major aim as “to enable people to decide upon a course of action that is acceptable for them”15.
Four aims can be identified for any antenatal screening programme16
1. Enable timely medical or surgical treatment of a condition before or after birth, allowing
healthcare staff and parents to better prepare for the delivery of a child with health
problems
2. Provide parents with time to prepare psychologically, socially, financially and medically for a
baby with high health requirements and/or a disability
3. Provide parents with the option of pregnancy termination
4. To provide information so that parents may choose between options 1,2 and 3
The primary choices made by parents after antenatal screening are to either continue with or
terminate their pregnancy, raising important ethical issues of the value placed on mentally or
physically disabled people in society17. The link between detection of abnormality and termination
has become so strong, and is seen as a clear indicator of scientific, medical and social advancement
that this is often recommended rather than offered as one alternative. The UK Collaborative Study
on AFP published in the Lancet in 1977 clearly states that termination is offered as “the only means
available for reducing the number of live infants born with these congenital defects”. It was feared
that the reliability of antenatal screening would impinge on the number of babies with Spina Bifida
that could be found and terminated. SBNZ submits that screening has more to do with the interests
and benefit of others than those of the unborn baby. There is no denying that screening can be a
vital aid in monitoring pregnancies for therapeutic reasons with a view to safe delivery. However,
most screening is performed in order to prevent the birth (or conception) of disabled children.
The impact of the NSU Antenatal Screening programme on both Spina Bifida and Down Syndrome
can be clearly seen in the number of live-births from 1996 to 2009 recorded by the NZ Birth Defects
Registry.
14
Wikipedia : Prenatal diagnosis http://en.wikipedia.org/wiki/Prenatal_diagnosis 15
Aksoy S Antenatal screening and its possible meaning from unborn baby’s perspective BMC Medical Ethics 2001, 2:3 doi:10.1186/1472-6939-2-3 16
Wikipedia : Prenatal diagnosis http://en.wikipedia.org/wiki/Prenatal_diagnosis 17 Wikipedia : Prenatal diagnosis http://en.wikipedia.org/wiki/Prenatal_diagnosis
0
10
20
30
40
50
60
70
80
90
Live
bir
ths
Spina Bifida
Down Syndrome
Linear (Spina Bifida)
Linear (Down Syndrome)
In the six month period January-June 2011 approximately 2,400 second trimester maternal serum
screening tests were carried out. During this period, the NSU reports there would be approximately
40,000 pregnant women. About 17,000 of these women participated in first trimester combined
screening and 2,400 women participated in second trimester maternal serum screening. This
indicates that just under 50% of pregnant women are choosing to participate in screening, and that
most women are having first trimester combined screening. Out of the 2,400 second trimester
maternal serum screening tests there were 17 increased risk results reported for neural tube defects
(NTDs). The failure of pregnant women to undergo antenatal screening and subsequent failure to
terminate on diagnosis has been noted as ‘a hindrance to the efficacy of success in preventing the
birth of babies with Spina Bifida’, reducing efficacy levels in practice from 95% to 65%18.
The challenging ethical dilemma caused by antenatal screening can be clearly demonstrated in a UK
based Family Centred Care study where it is reported that a mother felt unsupported in her decision
to proceed with a NTD affected pregnancy. This was in direct contrast with the level of support
offered after delivery19. If the biggest benefit of prenatal screening is the prevention of births of
those with Spina Bifida, the question of why Spina Bifida is seen as so problematic must be raised.
ANTENATAL SCREENING: SPINA BIFIDA & PRENATAL SURGERY Antenatal diagnosis of Spina Bifida has paved the way for modern treatment options in the form of
prenatal surgery and many other management strategies20. The present reality is that antenatal
diagnosis rarely leads to foetal therapy. Innovations in treatment for Spina Bifida do not form part of
an ethical discussion within the NSU Antenatal Screening for Down Syndrome and other conditions
where a NTD has been diagnosed. The option of prenatal surgery (currently unavailable in New
Zealand but available in the US and in other centres internationally) is rarely discussed or offered.
Prenatal surgery for Spina Bifida must be carried out between 19-26 weeks gestation.
SBNZ submits that due to the extremely short timeframe between diagnosis and meeting surgical
criteria that the MOH prepares for this situation allowing clinicians access to the HCTP to better
meet the needs of unborn babies diagnosed with Spina Bifida, giving them access to what SBNZ
believes is life-saving surgery. This is especially crucial where parents are making a choice between
termination or pursuing surgical options.
DISABILITY & ECONOMICS : RATIONAL ECONOMIC THINKING – THE IMPACT ON THE SPINA BIFIDA COMMUNITY We live in an economic environment that is driven by fiscal responsibility and cost cutting. From the
late 18th century to today financial cost is at the core of understanding the position of disability in
society. Efficacy and efficiency are demanded by society and when screening was first developed it
was for this reason that that this technology was harnessed: the desire to uncover the disabled and
prevent the birth of what was understood to be costly and non-productive future members of
society.
18
Gagen WJ and Bishop JP : Ethics, justification and the prevention of Spina Bifida, J Med Ethics 2007 September; 33(9):501-507 19
Pickering D : A fight for the right to life, Pract Midwife 2011 Dec;14(11):15-6. 20 Lazareff Jorge A : Neural Tube Defects, World Scientific 2011 pg 31
Impaired bodies have always been viewed as a drain on economies rather than a source of
production. A DHSS document from the UK clearly spells out the ‘real’ aim of screening technologies
– “because caring for the handicapped can impose great burdens on our society the prevention of
handicaps in addition to its other benefits may save money. The costs of providing amniocentesis for
all expectant mothers over the age of 40 years and maternal serum AFP screening for all pregnant
women would be more than offset by the economic benefits in terms of savings of expenditure on
children and adults with Down Syndrome and Spina Bifida” 21. It can be reasonably assumed in
today’s environment that those seen as posing an economic risk to the health budget (i.e. diagnosed
NTDs) will continue to be targets.
A report entitled “How to set priorities in medicine” published in the Lancet in 1976 stated that ‘the
allocation of priorities in medicine – for money, manpower and materials – was inescapably the
most important topic’ facing the medical profession at the time. The development of technology,
increasing medical knowledge to support life, and increasing patient numbers combined with
economic reality has led to a situation where cost and balancing resources have become part of
medical discussions that surround screening and prevention agenda. Controlling the healthcare
budget has become a leviathan for successive governments. In 1975 the benefits of the NHS national
screening programme in the UK were made abundantly clear:
The advantages gained …, due to early detection of severe neural tube defects
and other abnormalities, (would lead to) … a major reduction in the number of
cases of Spina Bifida requiring long-term institutional care. In crude economic
terms, the value of the savings in healthcare alone would probably far
outweigh any costs of a screening programme22.
The phrase ‘would probably far outweigh’ indicates that in 1975 the real cost of disability had yet to
be determined. Nevertheless, the assumption that disability is a national cost continues. A 2010
study by Dr Brendon Bowkett (CCDHB) has shown that the cost of surgery alone is nearly $1M for
each child affected by Spina bifida and other neural tube defects. Direct surgery and hospital costs
for each child, from their birth at Wellington Hospital, has been worked out as $944,000. The costs
would be much higher if occupational therapy, GP visits, equipment and other costs were taken into
account.
The New Zealand Government has agreed under Article 25 of the UN Convention on the Rights of
Persons with Disabilities (so to all District Health Boards as Government Agencies) that persons with
disabilities have the right to the enjoyment of the highest attainable standard of health without
discrimination on the basis of disability. Governments have increasingly prioritised public health as a
national responsibility, promoting the idea of personal responsibility towards health, indeed the
concept of national health and prevention has become entwined in successive government agendas.
The concept of prevention to keep people healthy and improve quality of life has become a powerful
tool and has grown to cover smoking, drinking, eating habits, pregnancy and childcare. In terms of
an antenatal screening programme it is not clear whose health takes priority: the mother’s, the
21
Aksoy S Antenatal screening and its possible meaning from unborn baby’s perspective BMC Medical Ethics 2001, 2:3 doi:10.1186/1472-6939-2-3 22
Leighton A H, Gordon Y B, Kitau M J et al Levels of alpha-fetoprotein in maternal blood as a screening test for fetal neural-tube defect. Lancet 1975 79431012-1015. 1015 PubMed
unborn baby or our country. The ethics of a population screening programmes are only questioned
when it is perceived to hinder progress of public health and science initiatives. From a governmental
point of view, the benefits of prenatal screening for Spina Bifida are to decrease costs within the
health budget. Reducing costs associated with disability and supporting screening technology reaps
economic benefits. A study by the Centres for Disease Control, Atlanta (CDC) in 1979 considered the
economic consequences of screening. It reported the screening programme cost $2M USD whilst the
economic benefits of averting institutionalised care and medical care exceeded $4M USD23.
The connection between disability and economics is nothing new but when medicine justifies its
actions in terms of the effectiveness of AFP screening towards the assumed benefits of preventing
births of affected babies it is clear that we are dealing with a complex moral issue. This sort of
rational-economic thinking degrades society’s willingness to accept and care for ‘abnormal’ children
and adults as well as making people hostile towards parents who choose not to terminate affected
babies. At the same time, the category of unacceptable abnormality is enlarging whilst the range of
acceptable normality narrows. If Spina Bifida and Down Syndrome are ‘too’ expensive today, what
other conditions are likely to become ‘too’ expensive if the economic climate becomes gloomy?
Those providing screening programmes are expected to prevent any possibility that financial
considerations might affect clinical behaviour.
ANTENATAL SCREENING PROGRAMMES: IMPACT ON MEDICAL RESEARCH & SURGERY TECHNIQUES There is evidence that the availability of antenatal screening and diagnosis is having a negative effect
on medical research into cures for genetic disorders due to the selective termination of affected
babies. In the 1960’s research teams were working on a cure for Tay-Sachs disease. The emphasis
now is put on an antenatal diagnosis, followed by termination in the case of a positive test. Likewise,
when a diagnostic test for Huntington disease became available in the 1980’s research funds for a
cure began to disappear. Resources that should be going into developing surgical and microsurgical
techniques for prenatal repair of Spina Bifida are instead being diverted into ‘search and destroy’
public health programmes.
ANTENATAL SCREENING: COSTS & BENEFITS In 1978 the key benefit of screening was described by Chamberlain as ‘averting the birth of those
who would have survived to live a handicapped life’
As with many other screening programmes, it is disappointing, when benefits
are estimated on a population basis to find that so many affected pregnancies
are likely to escape early detection and termination … but a reduction of 200
births a year is certainly a worthy objective.
The benefit of screening for NTDs are understood by clinicians in terms of the number of true
positive babies terminated with the cost seen in light of the number of false positive babies
terminated. SBNZ contends that the real cost of screening is born by all babies diagnosed prenatally
and subsequently terminated. The CDC reports that 74% of affected Spina Bifida pregnancies end in
termination. A further 12% of all terminations are carried out on babies that do not have Spina Bifida
23
Layde Peter M et al Maternal Serum Alpha-Fetoprotein Screening : A cost benefit analysis. AJPH June 1979, Vol 69, No 6 566-573
(ie. false positive misdiagnosis). Likewise the Danish Council of Ethics published a debate outline on
ethical issues in foetal diagnostics. It states “120,000 babies examined, over 2,200 sick or deviant
babies identified and terminated, 1,100 presumably healthy babies lost as a side-effect of the
examination used”.
The Royal College of Physicians noted that “unless prenatal diagnosis is to be devoid of practical
application when it reveals a major defect in the baby, a responsible doctor must discuss with the
parents the option of terminating that pregnancy and in some circumstances provide information
that may deter them from further reproduction” 24. It was noted that “while dangers of misdiagnosis
are present throughout the field of medicine, the consequences are particularly grave in this
situation: a false positive would result in a ‘normal’ baby aborted and that this possibility should be
discussed with any parents planning on pregnancy termination as a result of AFP screening” 25. The
false positive rate in screening for anencephaly and open Spina Bifida is 0.8%26. Normal AFP levels do
not ensure the birth of a ‘normal’ baby given AFP screening has a false negative rate of 12% for
anencephaly and 21% for spina bifida. Closed NTD will not be detected in most cases27.
For populations with varying incidence of NTD the benefits of antenatal screening (in terms of the
number of affected births prevented) against the physical cost (the number of normal babies
harmed by amniocentesis) the cost-benefit ratio becomes progressively less favourable as the
population incidence if NTD decreases. Irrespective of the stance taken on foetal diagnostics, for
either party involved it will be problematic.
Medical professionals usually focus on the pregnant woman rather than the unborn baby when
assessing the advantages and disadvantages of antenatal diagnosis and it is generally conceded that
the primary aim of antenatal diagnosis is the detection and subsequent termination of abnormal
babies. Because of the procedural risks to the unborn baby and the lack of effective methods of
foetal therapy for most malformations, antenatal diagnosis is a rational activity ONLY if termination
is seen as an acceptable alternative but it is highly questionable to claim termination of pregnancy as
in the ‘child’s best interest’.
24 Aksoy S Antenatal screening and its possible meaning from unborn baby’s perspective BMC Medical Ethics 2001, 2:3 doi:10.1186/1472-6939-2-3 25
Layde Peter M et al Maternal Serum Alpha-Fetoprotein Screening : A cost benefit analysis. AJPH June 1979, Vol 69, No 6 566-573 26
Wald NJ, Hackshaw AK, George LM : Assay precision of serum alpha fetoprotein in antenatal screening for neural tube defects and Down’s syndrome. 27
Quest Diagnostics : Prenatal screening and Diagnosis of Neural Tube Defects, Down Syndrome, and Trisomy 18 http://www.questdiagnostics.com/testcenter/testguide.action
Costs and benefits of antenatal diagnosis typically noted by the medical profession28
Costs Benefits
For hospital and health authorities
Costs in connection with diagnosis
Scarce resources allocated to children with good prognosis rather than severely disabled children
Costs involved in performing termination
Costs in connection with counselling services
For pregnant women and fathers-to-be
Availability of prenatal diagnosis
Increase in the number of healthy children born to parents at risk who, had prenatal diagnosis not been available, would have avoided becoming pregnant
Diagnostic procedures
Risk of foetal loss or injury
Maternal hazards
Maternal anxiety
Result : True Negative
Reassurance
An increase in the number of healthy children born to parents at risk who, had the test result not been negative, would have terminated pregnancy on grounds of ‘risk’
Result : False Negative
False reassurance
Result : False Positive
Termination of healthy baby
Grief and adverse psychological consequences of termination of unaffected pregnancy
Result : True Positive (followed by termination)
Grief and adverse psychological consequences of termination of affected pregnancy
Averted parental distress and burden of care for disabled child
Additional non-disabled children
Results : True Positive (not followed by termination)
Time to prepare for the birth of a disabled child
28
Aksoy S Antenatal screening and its possible meaning from unborn baby’s perspective BMC Medical Ethics 2001, 2:3 doi:10.1186/1472-6939-2-3
SCREENING & LIFE LIMITING CONDITIONS: TERMINATION vs PERINATAL HOSPICE Dame Cicely Saunders, founder of the modern hospice movement is quoted as saying "You matter
because you are you, and you matter until the last moment of your life.29" As prenatal testing
becomes increasingly routine and continues to advance, more parents are learning devastating news
before their babies are born and find themselves in this heartbreaking situation. In too many places,
the ability to diagnose has raced ahead of the ability to care for these families and their babies. But
in a beautiful and practical response, more than 125 pioneering hospitals and hospices in the U.S.
and other countries, including New Zealand are now providing perinatal hospice/palliative care for
families who wish to continue their pregnancies with babies who likely will die before or shortly
after birth allowing parents to embrace whatever time they may with their baby. A perinatal hospice
approach walks with these families on their journey through pregnancy, enabling them to make
meaningful plans for the baby's life, birth, and death, honouring the baby as well as the baby's
family.
Perinatal hospice and palliative care is not a place; it is more a frame of mind providing an innovative
and compassionate model of support to parents who find out during pregnancy that their baby has a
life-limiting condition. Support begins at the time of diagnosis, not just after the baby is born and
can be thought of as "hospice in the womb" (including birth planning and preliminary medical
decision-making before the baby is born) as well as more traditional hospice and palliative care at
home after birth (if the baby lives longer than a few minutes or hours). It can easily be incorporated
into standard pregnancy and birth care and can also include medical treatments intended to
improve the baby's life. Ideally, it is a comprehensive team approach that includes Obstetricians,
Perinatologists, labour & delivery nurses, Neonatologists, NICU staff, chaplains/pastors and social
workers as well as genetic counsellors, midwives, therapists, and traditional hospice professionals.
Perinatal hospice is a beautiful and practical response to one of the most heartbreaking challenges
of prenatal testing providing parents with the opportunity to express their wishes for their baby’s
birth, for its care and care of the parents allowing them to create memories together and to include
family and friends. This model of care supports families through the rest of the pregnancy, through
decision-making before and after birth, and through their grief. The process of collaborating with
caregivers decreases parental anxiety by ensuring that their wishes are clearly communicated and
giving them a sense of control in a situation where so many things may feel out of their control.
The NSU Antenatal Screening Programme detects two chromosomal abnormalities: Trisomy 13
(Patau Syndrome) and Trisomy 18 (Edwards Syndrome) both of which are referred to as ‘not
compatible with life’ by Foetal Medicine Specialists. For babies diagnosed with Patau Syndrome 50%
die in the first month of life, the remainder in the first year of life. For Edwards Syndrome, 50%
usually die in the first week and 90% have died before their first birthday. Anencephaly, a NTD is also
defined as incompatible with life.
SBNZ asks that the NSU incorporates information about the option of Perinatal Hospice into
information provided to both medical professionals and parents so that this too is recognised as a
viable option when a life limiting prenatal diagnosis is received.
ANTENATAL SCREENING: CONTRAVENING HIPPROCRATIC PRINCIPLES OF MEDICINE?
The prevailing attitude surrounding screening, antenatal diagnosis and subsequent termination of
babies diagnosed with Spina Bifida contravenes the Hippocratic Oath
I will apply, for the benefit of the sick, all measures which are required, avoiding
those twin traps of overtreatment and therapeutic nihilism … I will remember that
there is art to medicine as well as science, and that warmth, sympathy, and
understanding may outweigh the surgeon's knife or the chemist's drug …. Most
especially must I tread with care in matters of life and death. If it is given me to
save a life, all thanks. But it may also be within my power to take a life; this
awesome responsibility must be faced with great humbleness and awareness of my
own frailty. Above all, I must not play at God …. I will remember that I do not treat
a fever chart, a cancerous growth, but a sick human being, whose illness may
affect the person's family and economic stability. My responsibility includes these
related problems, if I am to care adequately for the sick …. I will prevent disease
whenever I can, for prevention is preferable to cure…. I will remember that I
remain a member of society, with special obligations to all my fellow human
beings, those sound of mind and body as well as the infirm.
The classic version of the Hippocratic Oath describes the responsibilities of medical professionals in a far more direct manner -
I will apply dietetic measures for the benefit of the sick according to my ability and
judgment; I will keep them from harm and injustice…. I will neither give a deadly
drug to anybody who asked for it, nor will I make a suggestion to this effect.
Similarly I will not give to a woman an abortive remedy…Whatever houses I may
visit, I will come for the benefit of the sick, remaining free of all intentional
injustice.
Healthcare professionals should be expected to strengthen their role as providers of support to
families for whom they care in an ideal screening environment. If the Hippocratic Oath is at the
centre of the screening process and any actions proceeding from it are firmly rooted in its principles
then babies born with diagnosed disabilities would be born and kept from the harm and intentional
injustice of termination. The classic oath states I will not give to a woman an abortive remedy. This
contrasts with I will prevent disease whenever I can, for prevention is preferable to cure. The
historical context of the oath clearly indicates that pregnancy termination was never intended to be
linked with ‘prevention’.
Thomas Phaire is quoted in 1553 in a major paediatric resource which began with a promise that
stood its ground and featured in the front cover of Clinical Paediatric Surgery in the 1970’s.
“My purpose is here to do them good that have most need, that is to save children,
and to share the remedies that God has created for the use of man”.
Since then the promises and oaths that have shaped obstetrics and paediatrics have changed. The
Hippocratic Oath is viewed in the light of historical interest; mentored medical students invent a new
oath each year. The Obstetric College code of ethics in Australia no longer mentions a baby30 .It is a
sad situation when modern medicine prefers to “give deadly potion” or “cut” to destroy the disabled
rather than promoting therapeutic developments to treat the disability.
ANTENATAL SCREENING: EUGENICS IN ACTION? The justification for effective widespread screening programmes geared towards the eradication of
Spina Bifida is hidden in language describing efficacy and statistics and continues the negative
perception of disablement in society. In 1883 Francis Galton first described eugenics as the science
of improving stock – not only by judicious mating but whatever tends to give the more suitable races
or strains of blood a better chance of prevailing over the less suitable than they otherwise would
have had.
In 1932 the German Medical Association introduced the Law of Prevention of Hereditary Diseased
Offspring and it is worth noting that by 1934 45% of doctors had joined the Nazi Party. On the 50th
anniversary of the Nuremburg Trials in 1996, the German Medical Association attributed Nazi
medicine to the “removal of conscience from medicine”. The Medicine and Conscience conference
warned the international medical profession that the tragedy of those times occurred when doctors
abandoned conscience and dismissed morality. In 2005 the Royal Australian and New Zealand
College of Obstetricians and Gynaecologists endorsed the national antenatal screening programme
for Down Syndrome and Other Conditions as “Best Medical Practice”. This designation is known and
respected around the world as a standard of care and is based on evidence based medicine
quantifying reduction in mortality rates, demonstrated enhanced 5 year survival rates and scientific
data that outlines the benefit of testing for the individual undergoing testing31. So why is it that the
very best this “Best Medical Practice” can deliver is statements heralding the numbers of abnormal
births prevented?
Modern eugenics, through social policy intervention does not aim to coerce or mandate who will be
conceived and be born but does emphasise the elimination of hereditary disease and other
disabilities through antenatal screening programmes. Despite testing being offered to all pregnant
women, there is no piece of research evidencing better outcomes for genetic testing of unborn
babies because benefit cannot be calculated when there is more chance of death than of clinical
gain32. Within one generation obstetric and foetal medicine has moved from assistance of those
most in need, to disapproval and criticism of their survival, undisciplined quality control and
dissemblance. The usual ethos of medicine has been traded for a biomedical eugenic standard.
Likening a ‘failure to abnormal births’ portrays these children not merely as valueless, but as
negatively valued33.
ANTENATAL SCREENING: INFORMATION & COUNSELLING Counselling before and after screening is crucial. Obstetricians have an ethical duty to properly
inform patients of their options.
30
Little D Issues in Prenatal Testing 2012, Address given to Family Life International Conference 27 Jan 2012 31
Little D Issues in Prenatal Testing 2012, Address given to Family Life International Conference 27 Jan 2012 32
Little D Critique Dr.Chris Wilkinson’s address to the Australian Colloquium of Catholic Bioethicists 24 Jan 2012 33 Little D Issues in Prenatal Testing 2012, Address given to Family Life International Conference 27 Jan 2012
In 2006 a British Medical Journal study evaluated the knowledge of obstetricians, midwives and
patients about prenatal screening tests. It should be alarming that 57% of Obstetricians, 100% of
midwives and 91% of patients provided incorrect responses34. If this is the case internationally, what
confidence does the National Screening Unit have that medical professionals and lead maternity
carers will perform any better?
Counselling is systematically biased towards encouraging parents to take up tests and undergo
termination if an abnormality is detected, rather than providing parents with the information and
support they require to make an informed choice and avoid unnecessary distress. Parents
undergoing screening are generally under-informed about the tests being offered that they may
subsequently undergo. Parents must be clear about whether they are undergoing screening or
diagnostic testing and the accuracy of the procedure they have been referred for, the risks to their
pregnancy and the possible consequences of dealing with any information the test provides. The
Medical Research Council (MRC) reports that “of 112 women (including high risk women)
interviewed after they had an amniocentesis, 24% were unaware that amniocentesis carried a risk of
miscarriage, and 86% were unaware of any other possible hazards. Of the 16 women who were
aware of possible risks to their baby, 12 had obtained this information from sources other than the
medical staff who had counselled them about amniocentesis. For women who had undergone AFP
screening, 30% were unaware that they had even had the test”35.
It is very difficult for parents to decline antenatal diagnostic procedures when offered. The reasons
parents change their minds about screening have been noted as the level of ‘risk’ they have for the
condition in question, the miscarriage risk of the testing being considered and the method of
termination which would be offered if they chose to terminate the pregnancy following an abnormal
result.
SBNZ submits that it is the latter discussion point which is lacking in our current maternal health
policy surrounding pregnancy terminations. Maternal Foetal Medicine Consultants are on record as
describing the late term termination procedure as ‘very quick, painless and easy’ – hardly an accurate
clinical description of the actual procedure.
To provide this ideal counselling, there must be enough well trained health care professionals to
satisfy the users of screening and diagnostic testing services. For all parents with an abnormal result
it is not always possible to give a clear idea of the particular disability diagnosed but the use of new
imaging techniques allow a better prediction of outcome and thus refine the prenatal counselling
provided36.
The suggestion that screening programmes may actually do more harm than good has been
suggested by Atkins and Hay. Antenatal diagnosis does not always increase a child’s chance of
survival, bringing with it ill-justified pressure for pregnancy termination even in cases where there is
34
Little D Issues in Prenatal Testing 2012, Address given to Family Life International Conference 27 Jan 2012 35
Aksoy S Antenatal screening and its possible meaning from unborn baby’s perspective BMC Medical Ethics 2001, 2:3 doi:10.1186/1472-6939-2-3 36
Cameron M, Moran P Prenatal screening and diagnosis of neural tube defects Prenat Diagn. 2009 Apr;29(4):402-11
an excellent chance of survival and negligible risk of long-term disability37. For an unborn baby
subjected to screening with the possibility of his/her life being terminated, the choice is not between
being born with health or being born without it; rather, the choice is between a worldly existence or
none at all.
In some genetic conditions diagnosed antenatally clinical signs may not surface for many years after
birth. In these cases, can termination justified after screening when there is the possibility of 20-30
years normal life expectancy? The South Australian Maternal Serum Antenatal Screening (SAMSAS)
Programme publishes pre-test information for parents about “Screening your baby for Neural Tube
Defects and Down Syndrome”. It is a comprehensive and easily understood document.
SBNZ recommends the NSU look at producing a similar document for New Zealand parents and also
consider using the above phrase to more accurately describe the NSU Antenatal Screening
Programme.
It has been argued that the non-directive counselling that surrounds antenatal screening is a myth
given parents are directed towards undergoing screening and proceeding to pregnancy termination
if there is an abnormality detected. However, any counselling must be non-directive given it is the
parents rather than the counsellor whose entire future life may be affected by decisions. The offer of
and acceptance of genetic counselling has been argued as setting up a likely chain of events in both
parties minds. Consciously or unconsciously held views by those counselling parents about what
they would do in each situation or what they think a ‘responsible’ person should do will influence
the choice of words in describing conditions, tests and probabilities.
There should be no persuasion and certainly no coercion if a screening programme is undertaken. In
2009 a study exploring current practice in genetic counselling in Victoria, Australia reported that “at
no time did any counsellor talk about the potential for children with disabilities to contribute to
family life’ and ‘that there was no overt encouragement to deliberate about the possibility of having
a child with a disability’38.
ANTENATAL SCREENING & THE UN CONVENTION ON THE RIGHTS OF THE CHILD The United Nations Convention on the Rights of the Child was signed by the NZ Government on 1
October 1990 and ratified on 6 May 1993 and as such precedes articles included in the United
Nations Convention on the Rights of Persons with Disabilities. On 6 October 1997 a general
discussion was focussing on the rights of children with disabilities. The committee noted that
‘throughout history children with disabilities had been denied access to education, family life,
adequate health care, opportunities for play or for training and to participate in “normal” childhood
activities and that their plight rarely figured high on the national or international agenda’.
Behind the statistics and the denial of many of the rights of disabled children throughout the world
is an attitude which views the life of a disabled child as being of less worth, less importance and less
potential than that of an able-bodied child. Society should accommodate a wide spectrum of
individual abilities rather than one in which all were expected to conform to one hypothetical and
unachievable standard of ‘normality’.
37
Aksoy S Antenatal screening and its possible meaning from unborn baby’s perspective BMC Medical Ethics 2001, 2:3 doi:10.1186/1472-6939-2-3 38 Little D Issues in Prenatal Testing 2012, Address given to Family Life International Conference 27 Jan 2012
Respect for the human dignity of children with disabilities and inclusion of those children into society
is part of a process of social change to make a society in which human dignity was a living value. In
discussing the rights of children with disabilities it was noted that the main concern must always be
the best interest of the whole child, not just the disability. It was also noted that society’s
responsibility to protect children from disability began before birth and that we should be
concerned about any and all circumstances which might result in disability at the time of birth.
The right to life and development was identified as a particular topic of discussion (CRC/C/69/329)
and the need to oppose ‘with great force’ the abortion of unborn babies known to be handicapped
was noted. It is clear from this document that all children have the right to life and that failure to
take all necessary measures to promote the survival and development of disabled children on an
equal basis with other children represented a profound violation of the Convention on the Rights
of the Child. All children were recognised as equal members of the human race and that
discriminatory laws which denied their right to life should be repealed. The goal of striving towards
perfection in the human beings required challenging in a public debate around medical and scientific
research and it was noted that it was one thing to work to eliminate impairment but quite another
to eliminate the person with the impairment. The denial of life should not be included as part of
any preventive strategy involving disability, rather we must celebrate diversity and learn to
celebrate the birth of every child, with or without disability.
As a signatory to the Convention on the Rights of the Child, the NZ Government is responsible in
ensuring recognition of the rights of disabled children, in particular the right to life, survival and
development, the right to social inclusion and participation. Monitoring of the situation of disabled
children must be undertaken and statistics and other information gathered to enable constructive
comparisons between regions and other signatory nations. The NZ Government is required under
CRC/C/69/338(d) to review and amend laws affecting disabled children which are not compatible
with the principles and provisions of the Convention. This encompasses legislation which denies
disabled children an equal right to life, survival and development including discriminatory laws on
abortion affecting disabled children and access to health care. The committee recommended
research into provision of statistics specifically to the extent to which the right to life of disabled
children is denied.
SBNZ submits that Section 187A(3) of the Crimes Act does not meet the standards required of the
Convention when abortions are performed because of an identified handicap or disability.
SEX SELECTION & DISABILITY TERMINATION: ETHICAL CHOICES? The use of screening programmes for sex selection has recently been described as an atrociously
unethical practice; however, the same argument could be made for screening for disabilities. It could
be argued that it is wrong to differentiate undergoing screening with the intention of finding out the
health condition of a baby with termination as a possibility, from undergoing screening to check on
the sex of the baby again with termination as a possibility. If it is right to terminate pregnancies in
case of disability, is it not equally right to terminate in the case of undesired sex?
Screening programmes should be regarded as an investment in improved information with benefits
measured by the value placed on this information39.
Informed consent for screening should include information about Spina Bifida and associated neural
tube defects that adequately describes the range of severity of the conditions, but at the same time
respects the human dignity of those babies born with these defects, and children and adults in the
Spina Bifida community.
Healthcare professionals should not impose their own beliefs upon parents and should review their
criteria for advising screening and for the choices that may follow so that they provide the best
possible service to their patients who are, of course, ‘persons’, a category which the unborn baby
may also belong, at least in the hearts and minds of it’s parents.
Yours Faithfully,
DL Belcher
Diane Belcher
Executive Director Spina Bifida Association New Zealand
39
Shackley P and Cairns J : Evaluating the benefits of antenatal screening : an alternative approach, Health Policy, Vol 36, Issue 2, May 1996, pg 103-115