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

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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.

29

http://perinatalhospice.org/FAQs.html

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