Etape in Consiliere Genetica

8/17/2019 Etape in Consiliere Genetica

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ORIGINAL RESEARCH

“Testing Times, Challenging Choices”: An Australian Study

of Prenatal Genetic Counseling

Jan M. Hodgson & Lynn H. Gillam &

Margaret A. Sahhar & Sylvia A. Metcalfe

Received: 18 June 2009 /Accepted: 17 July 2009 /Published online: 2 October 2009# National Society of Genetic Counselors, Inc. 2009

Abstract In many countries pregnant women deemed to be

at increased risk for fetal anomaly following a screeningtest may attend a genetic counseling session to receive

information and support in decision-making about subse-

quent diagnostic testing. This paper presents findings from

an Australian study that explored 21 prenatal genetic

counseling sessions conducted by five different genetic

counselors. All were attended by pregnant women who had

received an increased risk result from a maternal serum

screening (MSS) test and who were offered a diagnostic

test. Qualitative methods were used to analyze the content

and structure of sessions and explore the counseling

interactions. Findings from this cohort demonstrate that,

within these prenatal genetic counseling sessions, counselor

dialogue predominated. Overall the sessions were charac-

terized by: a) an emphasis on information-giving b) a lack

of dialogue about relevant sensitive topics such as disabilityand abortion. Arguably, this resulted in missed opportuni-

ties for client deliberation and informed decision-making.

These findings have implications for the training and

practice of genetic counselors and all healthcare professio-

nals who communicate with women about prenatal testing.

Keywords Prenatal genetic counseling .

Information-giving . Decision-making

Introduction

Over the last 30 years in most developed countries prenatal

testing has evolved into a seemingly routine and often

unquestioned part of contemporary pregnancy care. All

pregnant women have an a priori risk for fetal anomaly that

is affected by their age and family history. Non-invasive

prenatal screening tests add information from a blood and/

or ultrasound measurement to a woman’s a priori risk to

produce an individual risk for both aneuploidy and neural

tube defects for her pregnancy. If that individual risk is

higher than a pre-determined cut-off rate then the pregnan-

cy is considered to be ‘at increased risk ’ and women are

generally offered a diagnostic test.

Decisions about prenatal testing are both complex and

contextual. Studies that have explored women’s reasons for

participating in prenatal testing reveal that women may

participate for several reasons. These include because ‘it is

routine’ (Fuchs and Peipert 2005; Gates 2004; Tsianakas

and Liamputtong 2002), because women want reassurance

rather than diagnosis (Green and Statham 1996; Mitchell

2004; Weinans et al. 2004) and because they wish to avoid

later regret (Tymstra 1989). While there are recognized

J. M. Hodgson (*) : S. A. Metcalfe

Genetic Education and Health Research,

Murdoch Childrens Research Institute, Royal Children’s Hospital,

Victoria 3052, Australia

e-mail: [email protected]

J. M. Hodgson : M. A. Sahhar : S. A. Metcalfe

Department of Paediatrics, University of Melbourne,


L. H. GillamCentre for Health and Society. School of Population Health,

University of Melbourne,


L. H. Gillam

Children’s Bioethics Centre. Royal Children’s Hospital,

Murdoch Childrens Research Institute,


M. A. Sahhar

Genetic Health Services Victoria, Royal Children’s Hospital,


J Genet Counsel (2010) 19:22 – 37

DOI 10.1007/s10897-009-9248-6


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limitations in studies that have explored women’s knowl-

edge (Green et al. 2004), many have shown that women

frequently have a poor understanding of both screening and

diagnostic tests (Al-Jader et al. 2000; Bryant et al. 2001;

Jaques et al. 2005) and the conditions that are being tested

for (Marteau et al. 1988; Smith et al. 1994). Such data

suggest that women may not be making fully informed

choices.From an ethical perspective, it has been argued that

facilitating informed decision-making is a central goal of

prenatal genetic counseling — a process that requires ade-

quate information and deliberation within a non-coercive

and supportive context (Hodgson and Spriggs 2005).

However there is a dearth of process studies examining

prenatal genetic counseling sessions, making it unclear

whether this goal is being achieved in practice. Indeed

genetic counseling process, in general terms, has not been

well explored and it is therefore imperative for rigorous

process studies to be performed in order to provide

evidence to inform good practice (Meiser et al. 2008).While these findings are limited by the small sample size,

and can therefore not be considered generalizable or

representative of all Australian prenatal genetic counseling

sessions, this study begins to address this gap in knowledge

and contributes to increasing the evidence base for genetic

counseling in general.

The primary aim of this process study was to explore

current practice in prenatal genetic counseling sessions in

Victoria, Australia.

It is part of a larger project that also explored women’s

experiences of genetic counseling and being at risk for fetal

anomaly. Those findings as well as a further in-depth

exploration of the genetic counseling interactions are

reported separately.

Methodology

Study Design

Qualitative research methods were chosen for this study as

they provide appropriate tools with which to probe examine

previously unexplored or under-investigated human expe-

riences and phenomena.

The complete study had two data collection phases —

audio-taped genetic counseling sessions and audio-taped

follow-up interviews with women. This paper reports on

findings from the first phase only.

Genetic Counseling Context

Around 60% of pregnant women in Victoria have prenatal

screening and approximately 6% have a diagnostic test

(Moreira et al. 2008). Australia has a two tier health care

system with publicly funded health services as well as a

private user-pays system with tax incentives to encourage

utilization.

At the time of data collection, pregnant women receiving

public hospital care in Victoria, Australia were generally

offered, at no cost, a 2nd trimester maternal serum

screening (MSS) test at around 15 weeks gestation of pregnancy and a fetal ultrasound examination at 19 –

20 weeks gestation. Women could also ‘opt in’ to a 1st

trimester combined screening test (1TCS) program but

charges applied. Those tests would generally have been

offered as part of routine pregnancy care by midwives or

doctors. Only women of advanced maternal age are likely

to have been seen by a genetic counselor before their

screening test. Those women who, by virtue of their age or

their screening test result, were determined to be at

‘increased risk ’ were offered, at no cost to themselves,

genetic counseling to decide whether they wished to have a

diagnostic sampling procedure such as chorionic villussampling (CVS) or amniocentesis. These are invasive

procedures that increase the risk of miscarriage (Evans

and Wapner 2005). In cases where a fetal anomaly is

diagnosed parents may decide whether to continue the

pregnancy or have an abortion.

The counseling sessions in this study took place in the

public hospital system where the majority of genetic

counselors in Australia are employed. There were five

prenatal genetic counselors practicing at two sites in

Victoria at this time and all agreed to participate.

When this study was conducted, training for genetic

counselors in Australia consisted of a postgraduate diploma

in genetic counseling after which individuals could be

employed as Associate Genetic Counselors. Subsequently

full certification as a Genetic Counselor was achieved by

submitting 100 short and 20 long cases to the Board of

Censors of The Human Genetics Society of Australasia

(HGSA) (Sahhar et al. 2005). One counselor in this sample

was fully certified and the other four had been in prenatal

practice for more than 3 years and were working towards

certification. A Master of Genetic Counseling course began

in Victoria in 2008 and the Board of Censors is currently

reviewing certification requirements.

Recruitment

Following approval from the relevant Human Research

Ethics Committees recruitment took place at two different

tertiary referral hospitals in Victoria over a period of

18 months between 2003 and 2005. At these hospitals

pregnant women who receive an increased risk result from

a blood screening test are usually informed of the result by

phone by a genetic counselor and invited to attend the

Australian Study of Prenatal Genetic Counseling 23


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Genetics clinic for further discussion. Women in this group

who were aged over 18 years, who spoke and understood

English were invited to participate.

Prior to the counseling session the researcher explained

to women about the project and, if they agreed to

participate, obtained their written consent. The researcher

was not present during the genetic counseling session.

Data Collection

The genetic counseling sessions were audio-taped and

transcribed verbatim using a modified ‘conversation anal-

ysis’ format. All identifying information was removed and

pseudonyms were given to each client.

NVivo software (QSR International, Melbourne, Aus-

tralia) was utilized for storing and handling data and

facilitating browsing, coding and accessing of text.

Data Analysis

Transcripts from the counseling sessions were analyzed to

explore the structure, content and interactions.

Initial analysis involved ‘mapping’ of the session to

document the structure. Usually content analysis refers to a

type of analysis where codes are identified before analysis

begins (Rice and Ezzy 1999). However these data were

analysed for content inductively, in that any information

topic that was mentioned was coded only as it arose out of

the transcripts.

Genetic counseling is primarily a process of communica-

tion and in order to fully explore the interactions, data

analysis utilized concepts from both conversation analysis

and discourse analysis. Conversation analysis, developed

from the work of Harvey Sacks, has been used in a wide

range of health care settings to demonstrate how conversation

is organized and how verbal interactions are structured. This

type of analysis recognizes that spoken words are ‘speech

acts’ and therefore can perform social actions (Woofitt 2005).

Discourse analysis is described as the analysis of “the

language above the sentence” (Cameron 2001 p.10). It

should be emphasized that the analysis used in this study

did not constitute comprehensive conversation analysis or

discourse analysis; rather these were methods utilized as

tools for exploring both what was said as well as looking

for “what is being indirectly hinted at or presupposed”

(Cameron 2001 p. 128).

Coding was a flexible and evolving process in that

components and interactions were identified, refined and

then re-examined to check for consistency. Situational cues

and other non-verbal interactions were coded when appro-

priate. This process happened many times for each

transcript until all the dialogue and interactions had been

thoroughly represented and appropriately coded.

Initial coding of the counseling sessions was carried out

independently by two researchers and subsequently com-

pared and validated with the other members of the research

team to ensure triangulation of the analysis.

Results

Fifty two women attending genetic counseling were invited

to participate in the study. All women had received a phone

call 1 – 7 days earlier informing them that their screening

test had shown them to be at increased risk for fetal

anomaly. Twenty one women agreed to participate and their

increased risk results ranged from 1 in 4 to 1 in 296. Thirty-

one women declined the invitation with the most common-

ly cited reason being that they were too “distressed” at that

time. The 21 counseling sessions ranged in time duration

fro m 2 0 to 4 5 min and in 13 cases women were

accompanied by a partner or family member. At the time

of interview women’s gestation ranged from 12 – 22 weeks.English was the second language for eight of the partic-

ipants. See Table 1 for a summary of client characteristics.

The results are presented in two sections:

A) structure and content

B) genetic counseling interactions

Some quotes have been truncated in a manner that

allows for ease of reading without affecting interpretation.

Where this occurs it is denoted in the text by “..…”.

Overlapping speech is depicted by [ ].

C: denotes counselor dialogue. P: denotes dialogue

spoken by an accompanying person.Quotes are labeled with the Counselor ’s number and the

women’s pseudonym- e.g Counselor 3/Hannah.

A) Exploring the Structure and Content of Genetic

Counseling Sessions

Initial analysis identified five different structural compo-

nents that were common to all genetic counseling sessions.

These were categorized as:

1. openings2. screening test dialogue

3. diagnostic testing dialogue

4. explanation of the conditions being tested for

5. closings

Openings

‘Openings’ to the sessions were all fairly similar, usually

involving a greeting and some talk about the weather or

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difficulty with car parking. It was clear in all cases that such

‘openings’ served to establish and build rapport before

moving on to information-giving dialogue.

Screening Test Dialogue

This dialogue included clarification of the nature of the

screening test and presenting and explaining the increased

risk result.All counselors began by recapping this information:

C: ….. Now the reason why you’re here today is that

the risk for trisomy 18 has come back as an increased

risk ……trisomy 18 is a rare chromosome condition,

so you’ve probably heard of Down syndrome and

understand that, that ’s where there’s an extra chro-

mosome at number 21…… trisomy 18 is where

there’s an extra chromosome at number 18……

Because it ’s a larger chromosome it involves or

causes more serious problems for the baby……ok?

Now we’re not saying the baby has this problem but

we’re saying that your chance of this happening has

come back higher that we would expect and it has

come back 1 in 48…… ok? So what that means is that

if there were 48 women in your situation one would

have a baby with trisomy 18…… but 47 would not …..

Counselor 3/Hannah

The increased risk result was commonly presented in

multiple ways, and framed both positively and negatively. For

example Counselor 1 gave Sara the following information:

C: …… your age risk was 1 in 660 and the result is 1

in 99…… so and that ’s about close enough to 1 in

100……so that ’s 1%..... 98 people out of the 99 are

going to have a healthy baby……

Counselor 1/Sara

Table 1 Characteristics of Participants

Pseudonym Age Gestation at

counseling

Parity Risk MSS/1TCS GC ESL Length of session

(nearest minute)

Accompanying

person

Alice 36 16/40 G5P2 1 in 16 T21 MSS 1 – 29 mins Yes

Bec 35 17/40 G2P1 1 in 82 T21 MSS 2 – 45 mins Yes

Danni 30 16/40 G1P0 1 in 120 T21 MSS 5 Yes 38 mins No

Eve 34 12/40 G1P0 1 in 155 T21 1TCS 1 Yes 42 mins Yes

Faith 23 17/40 G2P1 1 in 75 T21 MSS 5 – 36 mins Yes

Gina 33 22/40 G3P1 1 in 217 T21 MSS 3 Yes 43 mins Yes

Hannah 32 16/40 G3P0 1 in 48 T18 MSS 3 – 27 mins No

Ingrid 22 18/40 G1P0 1 in 51 T21 MSS 3 – 44 mins Yes

Jess 19 21/40 G1P0 1 in 231 T21 MSS 3 – 39 mins No

Kym 37 20/40 G3P2 1 in 32 T21 MSS 3 Yes 33 mins Yes

Linda 33 17/40 G3P1 1 in 167 T21 MSS 5 – 22 mins Yes

Mia 37 15/40 G1P0 1 in 4 T18 MSS 3 Yes 33 mins No

Nina 31 14/40 G2P1 1 in 296 T21 1TCS 3 Yes 25 mins Yes

Olivia 29 18/40 G1P0 1 in 154 T21 MSS 5 Yes 28 mins No

Rhea 30 18/40 G1P0 1 in 163 T21 MSS 5 Yes 32 mins No

Sara 32 19/40 G3P1 1 in 99 T21 MSS 1 – 24 mins Yes

Tricia 31 16/40 G4P1 1 in 161 T21 MSS 4 – 43 mins Yes

Vicki 31 16/40 G1P0 1 in 235 T21 MSS 5 – 20 mins Yes

Wendy 19 16/40 G1P0 1 in 187 T21 MSS 4 – 23 mins No

Yasmin 35 20/40 G1P0 1 in 243 T21 MSS 4 – 28 mins Yes

Zara 37 18/40 G2P1 1 in 162 T21 MSS 4 – 20 mins No

Parity – G (Gravida = number of pregnancies)/P (Parity = number of livebirths)

T21 – trisomy 21 (Down syndrome)

T18 – trisomy 18 (Edwards syndrome)

1TCS – 1st trimester combined screening

MSS – 2nd trimester Maternal Serum Screening

GC – genetic counselor number

ESL – English as a second language



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It is interesting to note that in the above extract,

Counselor 1 expressed Sara’s risk for fetal anomaly five

different ways: as an ‘ a priori’ risk of “1 in 660”, as a post

MSS risk calculation of “1 in 99”, as close to “1 in 100”, as

“1%” and as a “98/99 risk of having a healthy baby.” Risk

communication is explored further in the context of genetic

counseling interactions in part B.

In general, screening test dialogue was lengthy andsometimes comprised over a third of the total dialogue in the

session. The majority of clients demonstrated a poor under-

standing of the screening test they had been given and several

demonstrated little or no recall of any relevant information

having been previously given. Prior to presenting the increased

risk result counselors frequently spent a long time clarifying or

‘recapping’ information about the screening test. This dialogue

generally included a reminder for the client about where and

when the test took place, what it had measured and often

reiterated that it was a screening rather than a diagnostic test

and could not therefore provide any certainty.

Diagnostic Testing Dialogue

This included:

a) introducing and offering a diagnostic test

b) explaining the testing procedure

c) explaining the associated risk of miscarriage

d) explaining the possible test results

e) talking about the decisions to be made

Introducing and Offering a Diagnostic Test

After Counselor 2 had explained the MSS test result to Bec

she informed her that one option now available was to have

an ultrasound examination performed at 19 weeks:-

C: that can often be enough to give you the

reassurance you need to go “alright well we’ll just

keep going along with things the way they are and..

and you know wait and see what happens at the end”.

T he o th er o ptio n is to h av e a test called an

amniocentesis. Now amniocentesis is the definitive

test for Down syndrome during pregnancy and what

that enables us to do is actually look at and… count

the number of chromosomes that the baby has…..

Counselor 2/Bec

Counselor 5 was typical in the way that she introduced

an amniocentesis to Danni:-

C: because you have fallen into an increased risk

category the definitive or the diagnostic test we can

offer you is an amniocentesis………..

Counselor 5/Danni

Diagnostic testing was presented by all counselors as an

offer of something that would provide clients with a

‘definite’ or ‘definitive answer ’ that was obviously in direct

contrast to the uncertainty engendered by screening tests

such as MSS or ultrasound examination.

Explaining the Testing Procedure

Every session contained information about diagnostic

procedures although the length and detail of these descrip-

tions varied greatly. In those sessions where women were

clearly already considering a diagnostic test, explanation of

the testing procedure comprised a large proportion of the

total dialogue.

Counselor 1 gave a typical description of amniocentesis:

C: So they identify the baby on the screen on the

monitor and they’ll do a full scan to check the size

and the gestation and all those things we talked

about and then when that ultrasound is finished,about 15 or 20 min of ultrasound, they prepare your

tummy with an antiseptic and a needle is popped

through into the sac where the baby is, avoiding the

baby and not damaging the baby and they’ll also try

and avoid the placenta. Now it takes about 30 s, it ’s

quick as a blood test, it ’s no more uncomfortable

than a blood test and as I said um they’ll take away

about 20 mls of fluid. After the test they ask you to

sit and wait outside…. until you’re feeling ok, about

half an hour …….

Counselor 1/Alice

All counselors used similar language to explain the

amniocentesis procedure. If counselees indicated at this

time that they wished to go ahead with a test then an

appointment was organized. Procedural descriptions about

amniocentesis tended to concentrate on the concurrent use

of ultrasound, the insertion of a needle, the pain involved,

the relevance of the amniotic fluid and the laboratory

techniques. Counselor 2 was the only counselor who

alluded to the fact that, aside from possible physical pain,

many women experience amniocentesis as an emotional

time. She told Bec:

C: …. it hurts about as much as having blood

collected from your arm…… but just of course the

experience is a lot more, you know, the fact that the

needle’s going into your tummy that ’s it ’s near the baby

that it ’s a very long needle you know it ’s not, you know

it ’s not anything that ’s certainly not as simple as having

blood taken from your arm…………

Counselor 2/Bec

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Explaining the Associated Risk of Miscarriage

While all sessions contained information about the risk of

procedure-related miscarriage, counselors only offered an

explanation for this in response to specific questioning from

a client. Counselor 4 gave a typical explanation about

miscarriage to Tricia and her partner:

C: now that ’s a test that ’s going to give you close to

100% that they haven’t got Down syndrome or other

chromosome problems…… by having this done there

is a risk of miscarriage and that risk is 1 in 200 which

is half a percent …… 99.5% safe

T: half a percent

C: half a percent causes a miscarriage

T: is that because they put the needle um in the sac is

that why?

C: yeah they don’t really know why [it happens

T: why it happens]

C: but they think because a foreign object is entering

into a sterile [environment

T: yeah] yeah

C: and whether it causes infection or ruptures the mem-

branes.. there’s half a percent chance of that happening....

Counselor 4/Tricia

Explaining the Possible Test Results

Information about the diagnostic test results usually

included explanation of the laboratory analysis and occa-

sionally some information about the limitations of this. This

dialogue frequently included an explanation about the

examination of fetal chromosomes, often taking place while

the counselors showed a pictorial representation of a

karyotype.

Counselor 1 gave a typical explanation of this process to

Alice:

C: Now the results for this test take two weeks for a

good reason, we’re actually collecting skin cells

which the baby sheds naturally in utero and we take

those skin cells until they are multiplying which takes

about 8 days so we can look inside and count the

chromosomes. It ’s important to know a little bit of the

complexity of the results so that you will understand

why it takes this long. (showing diagram) These are

the chromosomes inside the cell and there’s got to be

23 pairs for it to function as a normal human being

and for your baby to be normal. Now I can’t count

them and even a scientist would have trouble when

they looked at that to know that there are 23 pairs so

they spend the next stage actually um popping them

in their um right pairs and you’ve each contributed

one to each pair. The number 1 pair are the largest and

they go in descending order down to the smallest pair

which are the 22nd pair. The 23rd pair are the sex

chromosome so this baby is a girl….. but if it ’s a boyyour baby will have one X and one Y. Now you’ll see

here in this picture the number 21 pair has got 3

instead of 2, now that means that the baby definitely

has Down syndrome…….

Counselor 1/Alice

Talking About the Decisions to be Made

It was difficult to separate this dialogue from other

components of the sessions as it occurred sporadically, in

short sections and often at the beginning or the end of asentence that was mainly information giving. Counselor

discourse predominated and was overwhelmingly charac-

terized by a plethora of discourse containing examples of

what ‘some people’ might do. It was common for

counselors to present clients with a summary of their

options. The next extract illustrates one example of where

this was done in rather a confusing fashion. When Gina

and her partner appeared obviously unsure about having

an amniocentesis, Counselor 3 suggested that they should

go home to think about it further and offered the

following advice for how they might think about the

decision:

C : I always start with the issue behind it that is why

you might have the test, you know, and you need to

decide together what you would do with that

information……The other side of it is that um you

also need to consider your own feelings of coping for

the next 20 weeks of the pregnancy, that is your

anxiety if you don’t have the test whether you can

cope. And some women do ‘cos not everyone chooses

to opt for the amniocentesis, some women feel that

that is not right for them because they would

continue the pregnancy regardless and that theywould rather just find out at birth. The other option

is that you have the amnio and that you still would

continue the pregnancy and some women do that

because they want to learn about it beforehand…..

And then there’s the third option where you don’t

have the amniocentesis because it ’s not right for

you……

Although Counselor 3 appears to have summarized the

options available to Gina she omitted one possibility-to



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have an amniocentesis and terminate an affected pregnancy.

She continued by saying:

C: it ’s very difficult being faced with these decisions

when um you know everything’s going ok and

suddenly I’ve changed it for you and um you know

it most likely will be ok. It ’s just that we don’t

know…

there’s the uncertainty there

… and I guesswhat you both need to decide you know is about that

uncertainty whether you can cope with that. Also

whether you want to know and what you would do

with the information. Three big things really… and

sometimes it helps to have a few days you know to..

to think about it ……

Counselor 3/Gina

As Gina said very little during this part of the session it

is possible that Counselor 3 made several assumptions

about how Gina might be feeling.

Explanations of the Conditions Being Tested for Down

Syndrome

Nineteen women in this sample were at increased risk for

Down syndrome and two were at increased risk for trisomy

18. Sessions usually contained some explanation about how

the condition occurs as well as information about the

phenotype. In the following example Counselor 2 gives an

explanation of how Down syndrome occurs:

C: so the eggs are sitting there, it ’s got 46 chromo-

somes in it and it has to go through a process where it

halves and basically splits in two……….. there’s 23

in the egg that will then go on to fertilize.. to be the

baby ‘cos the sperm is supplying 23 as well………so

it ’s half mum, half dad. So we think that what

happens is that in that process that of.. of halving

the number you get what ’s called, the big word is

non-disjunction, but what it basically means is instead

of, you know, a pair of chromosomes going to either

side of the cell they get stuck together and they both

go to the one side…..

Counselor 2/Bec

In three of the 19 sessions where the woman was at

increased risk for Down syndrome there was no mention at

any time about the Down syndrome phenotype.

In two of the 19 sessions where the woman was at

increased risk for Down syndrome, the counselor asked

clients whether they understood or were “familiar ” with

Down syndrome. If clients indicated that they were there

was no further discussion or exploration.

The remaining 14 sessions where there was an increased

risk for Down syndrome contained information that focused

mainly on three aspects of the condition: the physical

appearance, the intellectual disability and the variability in

phenotype.

In response to being questioned by Counselor 3 Kym

stated that she ‘didn’t know anything’ about Down syndrome.

After explaining how Down syndrome occurs Counselor 3

offered the following brief explanation of phenotype:

C: so if this happens we know then that the baby

would have Down syndrome. Now as you can see

there’s a whole extra chromosome and when there’s

extra chromosome material that can change the baby’s

development …… and cause problems like Down

syndrome. With Down syndrome there’s usually

distinct facial features and there is also um mental

retardation, they’re slower to reach their milestones. At

the moment we don’t know if the baby has got this…..

Counselor 3/Kym

The Down syndrome phenotype was not mentioned

again in this session.

When Bec and her partner were asked whether they

“knew anything” about Down syndrome they appeared

unsure and Counselor 2 gave the following explanation:

C: ……you know it is quite variable at the very mild

end of the scale you know children go to school and,

you know, sometimes even high school um but there is

obviously some effect on some level, you know……

they probably don’t …..probably it ’s very difficult to

say the broad generalizations but generally there is some

effect, there is some sign of an intellectual disability andcertainly there are some physical manifestations even at

the milder end of the scale…… and at the very severe

end obviously you know the intellectual disability is

quite profound and they can also have serious heart

problems and unfortunately nothing that we can test in

pregnancy can tell you that ……. the reason that we

offer testing is because it ’s not a condition that we can

change in any way……so there’s no therapy, there’s no

treatment that will make them better ……

Counselor 2/Bec

After Counselor 5 gave Danni an explanation about how

Down syndrome usually occurred, Danni asked her what

this meant for the baby. Counselor 5 informed her that there

was a degree of intellectual disability that required

assistance with schooling and after talking about the

variability in phenotype she said:

C: and these children with Down syndrome have a

particular facial appearance about them……so um

their eyes are sort of more um slanted, they’ve got

28 Hodgson et al.


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sort of loose um facial um appearance, um sometimes

the tongue’s bigger and sort of hanging out so there’s

sort of a particular sort of appearance…..

Counselor 5/Danni

After explaining to Tricia about phenotype Counselor 4

added:

C: and we know nowadays babies with Down

syndrome have.. an average lifespan they can live

u p to 6 0, they’re very well supported in the

community and medical treatment now is better than

what it used to be and what we do know though is

that kids and adults with Down syndrome are always

dependent on their parents so they won’t necessarily

be able to go out, get a job, get married and lead their

[own lives

T: that ’s right]

C: so it is we’re talking about years and [years of

…

T: that ’s right]……

Counselor 4/Tricia

The notion of ‘dependency’ or ‘ burden’ alluded to by

Counselor 4 was common throughout the descriptions of

Down syndrome.

When talking about Down syndrome, all counselors

focused on the negative aspects, the variability in pheno-

type and the likely ‘ burden’ that would be placed on

families due to the intellectually disability and associated

medical conditions. There was little exploration of clients’

existing knowledge or attitudes and at no time did any of

the counselors talk about any potential for children with

Down syndrome to contribute to family life. Apart from

two occasions, where counselors offered clients a brochure

from the Down syndrome association, there was no overt

encouragement of clients to deliberate about the possibility

of having a child with a disability. Although counselors

frequently acknowledged that this choice may be “diffi-

cult ”, there was no discussion of any possible reasons for

this difficulty, so that clients’ feelings about having a child

with Down syndrome remained largely unexplored.

Closings

Counselors commonly brought the counseling session to a

close by offering some follow-up contact. By the end of

their counseling session 17 out of the 21 women had not

apparently yet decided whether or not to have a diagnostic

test. These women were frequently advised to ‘take time’ to

think about their decision and to subsequently let the

counselor know if they wanted an appointment made for a

diagnostic test. Counselors also frequently informed clients

that they could telephone and discuss the matter further

if they wished. There was often some chat about the

weather or the journey home and it was not uncommon

for counselors to wish clients ‘good luck ’ with their

decision.

Although all sessions contained each of these structural

components, there was a wide variation within the content

of each. None of the sessions proceeded in a strictlysequential fashion and while all sessions began with an

opening and ended with a closing, the middle three

components were commonly interspersed throughout the

sessions.

B) Exploring Genetic Counseling Interactions

The information-giving dialogue was simultaneously inter-

woven and overlaid with a variety of interactions. Three

particular interactions are explored in detail in this paper;

these were chosen as they are all crucial components of informed decision-making in this setting.

1. risk communication

2. decision-making dialogue

3. abortion discourse

Risk Communication

For women in this cohort there were two quite separate risk

communications:-

a) the increased risk result for fetal anomaly obtained

from the screening test

b) the risk of post-procedure miscarriage associated with

the diagnostic test they were offered

Communicating the Increased Risk Result

Counselors frequently appeared to anticipate the likely

distress caused by hearing the actual risk figure and in some

instances they could be heard ‘ preparing’ women, particu-

larly for the higher risk results. For example Counselor 3

attempted to prepare Mia for hearing her increased risk

result by talking about the low risk result obtained for

Down syndrome and neural tube defects. She then

continued by saying:

C: But one of the risks for trisomy 18 has come back

very.. quite high now don’t be alarmed by it but it has

come back 1 in 4…..ok . it doesn’t mean there’s

anything wrong and I can say that to you quite clearly

because this test only gives an indication and we do

get results as high as even 1 in 2……

Counselor 3/Mia



9/16

Counselor 3 could also be heard ‘ building up’ to

disclosure of the risk figure when she said to Ingrid:

C: (talking about risk for neural tube defects) your

risk for that has come back as very low risk ……

that ’s 1 in 4,140……It also gives y ou a r isk

assessment for trisomy 18 and that ’s a rare chromo-

some condition and that ’s come back as 1 in 33,100

so we’re not concerned about those two… What we

are concerned about is the risk for Down syndrome

and that has come back a little bit higher than we

would have expected and it has come back 1 in 51

alright which probably comes as a huge shock to you

I don’t know how.. yeah

I: yes (laughs)….. I realise it ’s a chromosomal disorder

and everything but um.. but.. it ’s just a shock (laughs)

C: of course yes. What ’s important to understand is

that what that means is that if there was 51 couples in

your situation only 1 would have a baby with Downsyndrome and 50 would have a normal pregnancy

outcome, that is the baby would not have Down

syndrome because this is a figure only for Down

syndrome……

Counselor 3/Ingrid

As seen in these findings, risks were commonly

presented in multiple ways and the risk was often framed

both positively and negatively. For example Counselor 5

said:

C: So when we’ve combined your age along with

your gestational information, how many weeks you

are, then plus with the 4 chemicals all that informa-

tion combined together has given you a risk of 1 in

163, so what we’re saying is that if you were to have

163 babies, 162 would be healthy and 1 would have

Down syndrome so it is very unlikely……

Counselor 5/Rhea

During risk communication counselors frequently reas-

sured clients that they were not ‘responsible’ for the result

and this often appeared to serve as a way of pre-empting

possible feelings of being ‘to blame’.

One example of this is illustrated by the next quote from

Counselor 3:

C:…… Down Syndrome is a condition that occurs by

chance and it has nothing to do with.. and look what I’m

trying to say is that you haven’t caused it, it ’s nothing

thatyoudidso it ’s not in your genes, it ’s nothing that you

ate or how you were feeling it can happen to anybody

ok? but it usually happens when women are older ……

Counselor 3/Kym

In her counseling session Olivia asked Counselor 5

whether she has contributed to the increased risk result:

O: is it ….. you know contributed by the fact that if I

eat some kind of food does it [contribute to

C: no not at all] no…..you have no control over …..the

blood measurement …..the chemicals, the analytes in

the blood you have no control over that ….. it doesn’t matter where you live what food……what you drink

um, medication nothing like that will impact ……

Counselor 5/Olivia

Communicating the Risk of Post Procedure Miscarriage

All counselors informed their clients about the risk of post-

procedure miscarriage and this was usually imparted in a

way that was designed to lessen distress. Commonly this

was achieved by a variety of ways of ‘softening the blow’,

one of which was to re-frame the risk. For example,Counselor 5 told Linda:

C: …we quote a risk of miscarriage of 1 in 200 or ……a

half a percent …… but we do see it as being a relatively

safe procedure but ……there is a small risk ……

Counselor 5/Linda

In 15 out of 21 sessions the counselor reassured women

about the competence of the practitioner, the medical

ultrasonologist, who would perform the diagnostic test.

A typical example of this occurred when Counselor 2

said to Bec:

C: …….. you know as far as the operators here they

are very experienced you are in very good hands if

you choose to go down that road……

Counselor 2/Bec

Decision-Making Dialogue

Decision-making dialogue was often implicitly woven

throughout the sessions and therefore it was difficult to

separate from other interactions. Within dialogue coded as

‘decision-making’, four themes emerged inductively fromthe data:

a) counselors talking about the importance of ‘individual

choice’

b) counselors suggesting that clients should take ‘time’ to

think about their decision.

c) counselors suggesting that clients should consider

whether they ‘needed to know’ the information that a

diagnostic test could provide.

d) clients looking for direction or help with decision-making.

30 Hodgson et al.


10/16

Counselors Talking About the Importance of Individual

Choice

All of the counselors emphasized that this was an

‘individual choice’ that could only be made by the woman

and her partner. Counselor 2 was typical in the way she told

Bec:

C: …... to go ahead and have any further testing is

completely your decision, it ’s your pregnancy, it ’s

your baby and it ’s your choice and some people do

choose not to take this sort of any further ………

Counselor 2/Bec

Counselor 3 told Kym that she was unable to advise her

about what decision to make:

C: ok, put it this way.. it ’s up to each couple what you

decide to do. I’m here to give you the information and

weigh up the pros and the cons but I can’t exactly tell

you what to do and I’ll tell you why I can’t …… because, one, I’ve never been in your situation and I

don’t know what it ’s like to be in your situation but

two, everybody feels completely different …….

Counselor 3/Kym

Counselors Suggesting that Clients Should ‘ Take Time’

to Think About the Decision

All counselors emphasized that clients should ‘take time’ to

think about whether or not to have a diagnostic test.

Counselor 3 told Jess:

C: ……with an important decision like this even

spending a few days thinking about it can help with

deciding what to do particularly with the uncertainty…

Counselor 3/Jess

Counselor 5 also stressed the utility of taking some time

to make this decision when she said:

C:…… sometimes um people find right at this point

when you’re with me that you.. that there is no way

you can make a decision but you might find in a few

days… given some time and some discussion you

might feel which direction you want to head in just

after a bit of time, time can help……..

Counselor 5/Danni

Counselors Talking About a “ Need to Know”

Counselors often suggested that clients should consider

whether they ‘needed to know’ this information. One

example of this was seen when Counselor 2 told Bec about

the differences between ultrasound and amniocentesis:

C: so I guess you know that ’s what it ’s going to come

down to is how you as a couple feel, like whether you

feel you definitely need to know or whether you can

be you know reassured by a healthy looking baby on

an ultrasound……

B: and it ’s basically a lifetime family commitment

(referring to Down syndrome)

C: that ’s right yes….

Counselor 2/Bec

In a similar vein, Counselor 4 gave Yasmin the following

explanation about decision-making:

C: and the difficulty at this stage is that we can’t be

sure, you know, it ’s a 1 in 243 chance that this baby

can have Down syndrome or another chromosome

abnormality and for some people they see that risk asa risk they’re willing to take, for some people they

just feel that they can’t take it, they need to know and

it ’s a very personal kind of decision and it ’s a decision

that the two of you need to talk about and come up

with something that you feel right about ……

Counselor 4/Yasmin

Clients Looking for Direction or Help

with Decision-Making

Within this cohort there was no evidence that counselors

were directing clients towards having a diagnostic test.

Indeed women were frequently told that the decision to have

a diagnostic test was ‘their choice’ and that there was no

‘right ’ decision to make. As described earlier counselors

offered guidance about the decision-making process by

suggesting that clients ‘take time’ to think about their

decision and by questioning them about whether they

‘needed to know’. However, in a third of the sessions clients

were obviously looking for some direction or advice.

In the following extract, it can be seen how Counselor 3

responded to Nina’s partner :

C: Is there any other questions you have or anything?

P: yes what would you do?

C: (laughs)

N: (laughs)

P: (laughs)

C: everyone asks me that question look um I really

don’t know what I would do……and the reason is



11/16

I’ve never been in that situation……and you don’t know

how you’re going to feel…… What I can tell you is that

everyone makes different decisions there is no right or

wrong decision as long as you both feel comfortable

with it and can also enjoy the pregnancy again……

Counselor 3/Nina

It is interesting to note how, in that extract, all the participants laughed as if recognizing the impossibility or

inappropriateness of the question. Counselor 3 responded

by emphasizing that it was important for couples to decide

for themselves and that there was no ‘right ’ decision.

Another example of this occurred when Jess asked

Counselor 3:

J: what would you do?

C: it ’s a very good question and to be honest with you

I really don’t know what I would do and the reason

is.. is that I’ve never been in that situation but not

only that I’m not you I don’t know how.. do youknow what I mean we all respond differently to things

like this. What ’s important for you to know is that

when someone comes back with an increased risk like

this it doesn’t necessarily mean there is a problem.

For sure it means the risk is higher but there’s still a

good chance that everything will be ok so what I

always talk about with women like yourselves is what

is the most important thing for them now. You know

imagine yourself in a week ok and imagine that

you’re still left with this choice of whether to have

this amnio or not and just think about one, how you ’d

cope during the week, you know have I been able to

do my daily activities, am I feeling ok, am I sleeping,

you know all those sort of things or is it becoming a

dominating factor …….

Counselor 3/Jess

While Counselor 3 did not give Jess a direct answer to

her question she did provide her with an explanation of

why she felt unable to do this and also suggested a

framework for consideration of the issues.

Abortion Discourse

In the absence of treatment for many of the conditions that

can be tested for, women who receive a diagnosis of fetal

anomaly are generally given a choice about whether to

continue with the pregnancy or whether to have an

abortion. All except two women in this cohort were at a

stage of pregnancy where, had they wished to have an

abortion, an induction of labor would have been offered.

Dialogue concerning abortion was the only interaction

where individual counseling styles varied considerably. In

addition abortion discourse was highly variable in both the

amount and the content with a marked absence of explicit

dialogue.

Although the word ‘abortion’ was spoken by three

clients it was not used by any counselor at any time with

four out of five counselors using the words ‘termination of

pregnancy’. One counselor (Counselor 3) did not use the

words ‘abortion’ or ‘termination’ in any of her sevensessions although two of her clients did. There were

noticeable differences between counselors as to whether

they introduced the topic of abortion — two counselors

(Counselors 1 and Counselor 3) were seemingly reluctant

to do so. The other counselors, while apparently

comfortable with raising the topic as an option, did not

talk about methods of abortion even in response to client

questioning.

On the few occasions when counselors raised the topic

of abortion it was not done in any explicit manner such as

when Counselor 4 suggested that Yasmin and her partner

should ‘weigh up the risks’ of having an amniocentesis andthink about:-

C:…… how are we going to deal with circumstances

later down the track and only you guys know how

you’ll deal with that and it ’s your decision it ’s.. no

one’s going to tell you what to do…….

Counselor 4/Yasmin

The phrase “deal with circumstances down the track ”

hints at the possibility of some sort of undesirable outcome

and is one of the euphemisms used by counselors to allude

to the choices that would be available if a diagnostic test

revealed a fetal anomaly.

In many cases it was the client who introduced the topic

of abortion by asking a direct question. One example of this

could be seen when Counselor 5 was ‘on hold’ on the

telephone while making an appointment for Linda to have

an amniocentesis. Linda asked her:-

L: ……. and what happens if.. there is the Down

syndrome there……what happens after that?

C: ok so if the result comes back showing Down

syndrome then I’

ll ask you to come in and.. and seeme and then we talk through you know what you

want …

Counselor 5/Linda

A different approach was seen in the following extract

where Counselor 2 picked up on a cue from Bec and used it

to introduce the option of termination of pregnancy. After

listening to an explanation about Down syndrome Bec

commented that it was “ basically a lifetime family

32 Hodgson et al.


12/16

commitment ” and Counselor 2 took that opportunity to talk

about abortion:-

C: ……that ’s right yes.. So you know it ’s a horrible

thing to say but the reason we test people in

pregnancy is that we.. we want to be able to give

people a choice of you know having a termination if

they don’t feel that they don

’t want to have the babyand I guess fundamentally you know the decision

about whether or not to have a diagnostic test because

there is this risk of causing a miscarriage um is going

to have a lot to do with whether or not you want that

opportunity to have that choice….. if people are very

adamant that they couldn’t not terminate a pregnancy

um regardless of the.. of the outcome whether the

baby had a problem or not then I guess you know I

always question them on well why put your pregnan-

cy at risk, why take a risk of.. of losing a baby even if

cos there is this chance that the baby is healthy and

fine………

Counselor 2/Bec

Counselor 2 was the only counselor who both introduced

and explicitly addressed the option of abortion. She did not

offer any information about the method of abortion and

neither Bec nor her partner asked for this. There was

commonly a notable reluctance on the part of counselors to

talk about how an abortion may be performed. For example

Ingrid pressed Counselor 3 for more details about the

method of abortion:-

I:……. I mean it ’s something that we can discuss

further when we know the results but I’m just worried

reading that if you were to terminate that you would

go through that labour process

C: oh you mean later yes you would

I: so I was just wondering you know I’m 18 weeks

now 2 weeks before the results and things I don’t

know what it would be like to

C: yes it would be.. it would be like a mini labour but

I’m only telling you that because you’ve asked

I: yes

C: and most of the time it would be ok, you’ve got to

keep saying, most of the time it would be ok but in

the event that it ’s not

I: yep

C: um.. over 18 weeks it usually is like having a mini

labour

I: ok. I just [wanted all the information

C: yes and] here at this hospital we would be happy to

support you right through if it happened that

way………

Counselor 3/Ingrid

In response to Ingrid’s specific question about ‘what

happens’ she was given a non-specific answer: ‘a mini

labour ’.Another example of this occurred when Zara asked

explicitly about the method of termination Counselor 4 told

her:-

C:….. the mode of termination differs obviously

when you get further on in the pregnancy so depend-

ing on what stage you’ll be what we do is we refer

you on to the obstetrician to discuss that so they need

to assess your previous pregnancies, the state you’re

in at the moment, whether it ’s a surgical termination

or a medical which is an induction of labour …..

Counselor 4/Zara

While Counselor 4 did offer some explanation to Zara,

in that a “medical” is an induction of labor, she then stated

that it was difficult for her to comment further and

suggested that the process happened ‘step by step’ which

appeared to act as a barrier to more discussion about the

topic.

Discussion

Section A explored the structure and content of the genetic

counseling sessions. While this revealed a number of

differences it also identified many commonalities. In

general terms counselor dialogue predominated with coun-

selors following a loose format of information-giving,

obviously having particular information they considered

necessary for clients to hear. However at certain times,

rather than leading the dialogue, they appeared to adhere to

a more client-led agenda. This usually occurred in the

context of information about disability and abortion, at

which time counselors frequently only offered information

in response to direct questioning by clients.

Kessler first categorized genetic counseling sessions as

consisting of five phases: an intake phase, an initial contact

phase, the encounter phase, the summary phase and a

follow-up phase, with the first and last phases taking place

outside the actual counseling session (Kessler 1979). The

structural categories that arose inductively out of these data

do not differ greatly to his.

More recently McCarthy Veach and colleagues described

the structure of genetic counseling sessions. They referred

to four phases or ‘components’ of sessions which are



13/16

initiating, contracting, ending and referral but, compared

to Kessler ’s categorization, are more goal orientated

(McCarthy Veach et al. 2003). Results from this current

study do not reflect that structure as both goal and agenda

setting were largely absent from all sessions. If the

counselor ’s goals were achieved they were not explicitly

acknowledged and there was little attempt made to ascertain

client ’s goals or check client satisfaction. However it wasevident that individual clients had different educational and

psychological needs and so it is possible that discrepancies

in both structure and content may have arisen in response to

a ‘client-led’ agenda.

In terms of actual content there were some interesting

findings. Dialogue recapping upon and explaining the

screening test was always lengthy in response to clients’

obvious lack of knowledge about this. This has important

implications for those who offer screening tests in preg-

nancy as these data reveal a significant lack of knowledge

and misunderstanding by women about the screening test

they had all had some time before.Another notable finding was that descriptions of Down

syndrome were frequently narrow, with a focus on the

negative aspects of the condition and this dialogue did not

include any discussion of the potential place of an

individual with Down syndrome in family life. This reflects

the findings of others that information given about Down

syndrome in prenatal settings is generally inadequate for

informed consent and often emphasizes the negative aspects

of the condition (Bryant et al. 2001; Dunne and Warren

1998).

Genetic counselors spent a significantly larger propor-

tion of time clarifying information about the screening tests

and addressing procedural aspects of the diagnostic testing

procedures than they did giving information about the

conditions that such tests may diagnose or the options that

would be available following a diagnosis of fetal anomaly.

While women clearly need to receive information about

an invasive procedure that may cause a miscarriage, these

data reveal that dialogue about amniocentesis was charac-

terized by a focus on the short-term implications, such as

the possibility of physical discomfort, with a lesser focus on

the long-term implications such as receiving a diagnosis or

experiencing a miscarriage. It may be that a diagnostic

procedure is something that is more tangible, easier to

imagine and less threatening to think about than either

having a baby with a chromosome anomaly, or having an

abortion for fetal anomaly. Throughout the lengthy sections

of dialogue about amniocentesis, discussion of any poten-

tial psychological impact of having the test or receiving a

positi ve result was largely absent. In all instances,

information-giving discourse had a largely technical and

procedural focus that did not appear to encourage broader

deliberation.

Three particular interactions — risk communication,

decision-making dialogue and abortion discourse — were

chosen for in-depth analysis because they form critical

components of informed decision-making in this setting.

Risk communication is a vital part of most genetic

counseling interactions and in this cohort there were two

separate types of risks being communicated: the increased

risk for a chromosome anomaly evidenced by the screeningtest result; and the increased risk for miscarriage associated

with the offer of diagnostic testing.

It has previously been recognized that risks are inter-

preted differently depending on how they are articulated or

‘framed’ (Gates 2004). In this cohort, risks were usually

communicated numerically, predominantly framed as ‘1

chance in X’ although that is suggested as being the least

effective means for risk communication (Hallowell et al.

1997). Risks were also frequently ‘framed’ in several

different ways, possibly demonstrating how counselors

attempted to increase client ’s comprehension of risk.

Sometimes reframing appeared to occur as an attempt to‘soften the blow’, possibly in order to reduce distress, and it

is unclear how this may impact on individual comprehen-

sion of risk.

Decision-making dialogue was not observed as a discrete

entity but appeared to be interwoven with other types of

dialogue to produce ‘hints’ or ‘suggestions’ about how

clients might think about the decision to be made.

Counselors emphasized the importance of individual

choice, of taking time to think about the decision and that

clients should consider whether or not they ‘needed to

know’ this information. In doing this counselors provided

suggestions for how clients might make such a decision

without being overtly directive.

Seven clients specifically asked the counselor for advice

about having a diagnostic test. In the genetic counseling

literature, as a result of the historical adherence to a non-

directive counseling style, this has been referred to as “the

terrible question” (Karp 1983 p.1). While counselors never

gave a direct answer to the ‘terrible’ question they usually

provided clients with a decision-making framework within

which to situate themselves. Contemporary genetic counsel-

ing literature has redefined the question “what should I

do?” as an opportunity for the counselor to engage clients

in a useful discussion (Kessler 1997; Weil 2000) but such

engagement did not appear to occur within these data. This

possibly resulted in a missed opportunity for deliberative

dialogue.

Abortion discourse was largely absent despite this being

cited as an important component of pre-procedure counsel-

ing (Weil 2000). A lack of discussion about abortion in

prenatal genetic counseling sessions has previously been

noted by others (Rapp 1999; Rothman 1986). Paradoxically

when counselors are questioned hypothetically about their

34 Hodgson et al.


14/16

counseling sessions the majority state that this is informa-

tion that they always include (Burke and Kolker 1994;

Matloff 1994). In these sessions that did not happen and

two counselors appeared to be hesitant about using the

word ‘termination’ even when their clients had used that

term. While counselors occasionally introduced the topic

they did not explicitly discuss the procedures involved even

when clients expressed a wish to hear this information.Answers to such questions appeared to be sometimes

reluctantly provided and often in non-specific ways such

as describing the abortion procedure as a ‘mini labor ’, a

description which may be both unhelpful and inaccurate.

Such a description provides no tangible guidance for

women who have not previously been in labor. In addition

when labor is induced early, usually by oral and vaginal

prostaglandin therapy, strong labor pains often occur

resulting in a birth process that, while possibly shorter

and less painful than labor at full term, can involve any of

the usual complications of childbirth. Induced abortion is

frequently also an emotionally difficult process resulting indelivery of a stillborn baby and may not be comparable to a

labor process that, while possibly physically challenging,

generally culminates with the joy that is usually associated

with the birth of a live and healthy baby.

It is possible that talking about abortion was perceived to

be unnecessary or not relevant at this stage. Counselors

may have considered that decision-making about amnio-

centesis required only information about the test and that

knowledge about abortion and methods of abortion is not

needed by clients unless they receive a diagnosis of fetal

anomaly. In these data there were several occasions where

counselors encouraged clients to think about this process

‘step by step’ rather than trying to take into account, in the

first instance, all the things that could occur later.

While there are many definitions of informed choice

cited in the prenatal testing literature there is a general

consensus that an informed choice requires a person to be

competent, in possession of good knowledge and under-

standing of all available options, and to have made that

choice freely without coercion having considered their

individual values and beliefs (Carroll et al. 2000; Goldworth

1999; Marteau et al. 2001; O’Connor and O’Brien-Pallas

1989). In prenatal settings it is therefore important to offer

clients some information and discussion about the options

that would be available to them if they were to receive a

diagnosis of a fetal anomaly. Throughout the sessions all

counselors were keen to provide women with information

and less obviously comfortable with encouraging delibera-

tion, particularly about sensitive topics such as abortion and

disability. A lack of deliberative dialogue directly impacts on

the ability to make an informed choice.

There are several reasons that could explain why

counselors in this cohort did not engage women in

deliberative dialogue. Firstly it is possible that they may

not have considered deliberation to be a necessary part of

women’s decision-making. If this were indeed the case then

that would mean that counselors were using a narrow

version of autonomy that did not recognize the need for

deliberation and consideration of one’s own values and

beliefs (Hodgson and Spriggs 2005). However as most

counselors spoke about how it was important for clients to‘think about ’ their choice it seems likely that they were

aware that some kind of deliberation was important.

Secondly counselors may not have considered engage-

ment of clients in deliberative dialogue to be part of the

counselor ’s role. In terms of informed decision-making they

may have considered it sufficient to provide women with

information and a freedom to make their own choice.

Finally it is possible that counselors recognized that

deliberation was an important part of informed decision-

making but they were either unsure how to encourage it, or

perhaps felt constrained in doing so. They may have

considered that encouraging clients to do so could be perceived as directive. This seems a more plausible

explanation, given that when clients asked ‘what should I

do’, counselors withdrew.

From a sociolinguistic perspective, discussion of sensi-

tive topics such as abortion may be perceived as a ‘face

threatening act ’ (Brown and Levinson 1987) in that it could

be considered to be ‘impolite’ and therefore preferably

avoided. The moral nature of discourse concerning abortion

and the lack of clarity about associated legal issues may

also add to this sensitivity.

From a genetic counseling perspective, with its longstanding

ethos of nondirective counseling, there may be a perceived

discomfort on the part of the counselor about encouraging

clients to talk about sensitive issues. Viewed from this stance,

introducing a discussion about abortion could be perceived to

be ‘directive’ rather than an ethically appropriate and necessary

component of informed decision-making.

Avoidance of sensitive discourse might also indicate a

counselor ’s lack of ability to manage countertransference

issues (Weil 2000). Encouraging clients to deliberate about

possible outcomes may be perceived by counselors as likely

to cause distress. While counselors may perceive that

talking about these issues may make their clients uncom-

fortable, they may not recognize their own possible levels

of unease about such discourse. It is possible that

counselors’ personal views on abortion may impact upon

their ability to raise and discuss this topic.

It remains unclear whether the lack of abortion discourse

in this cohort was due to either client or counselor unease or

whether counselors did not consider that such discussion

was indicated or necessary. To ensure informed decision-

making in the context of prenatal testing it would seem to

be vital to offer this type of discussion so that women and



15/16

their partners are able to understand all of the options

available to them if they receive a diagnosis following their

diagnostic test. Such dialogue would also assist with

preparation for a possibly distressing outcome.

Conclusion

This study contributes to the scant amount of literature that

has explored the process of genetic counseling. Qualitative

research methods facilitated a rich exploration of the

process of prenatal genetic counseling for pregnant women

at increased risk for fetal anomaly. These findings have

provided a rare insight into the content and structure of

prenatal genetic counseling sessions as well as some initial

exploration of counseling interactions. An in-depth explo-

ration of counseling interactions will be reported separately.

Findings from this cohort demonstrate that, within these

prenatal genetic counseling sessions, counselor dialogue

predominated. While this mainly consisted of information-giving, women were sometimes offered guidance about

how to deliberate about the decision to be made. Important

concepts such as abortion and disability, that are arguably

material to women’s informed decision-making at this time,

were not explored in any detail.

More process research is indicated in order to further

explore how genetic counselors negotiate important dia-

logue particularly about sensitive issues such as abortion. In

addition, all health professionals who talk to women who

are making decisions about prenatal diagnosis need to

consider how they can best facilitate women’s informed

decision-making at this time.

Limitations

There are certain obvious limitations to this study as it was

informed by the practice of just five genetic counselors at

two sites in Victoria, Australia with a self-selected group of

pregnant women. Findings cannot therefore be considered

to be in any way representative of prenatal genetic

counseling sessions more generally. Nevertheless this

approach has provided some interesting insights into the

process of genetic counseling and these findings have

implications for all health professionals involved with

offering prenatal tests and supporting women in prenatal

decision-making.

Acknowledgements JH would like to convey her most grateful

thanks to all of the prenatal genetic counselors involved and

acknowledge their generosity in allowing interpretation of their

interactions and their continuing support in disseminating these

findings. JH would also like to acknowledge the Cooperative Research

Centre for the Discovery of Genes for Common Human Diseases

(Gene CRC) in Melbourne who provided funding for her PhD

candidature and A/Professor Clara Gaff for her comments on this

manuscript. Particular thanks are due to the 21 pregnant women who so

kindly participated in this research at an obviously challenging time.

This study was completed in partial fulfillment of the requirement for

the first author ’s Doctoral degree from the University of Melbourne.

References

Al-Jader, L. N., Parry-Langdon, N., & Smith, R. J. (2000). Survey of

attitudes of pregnant women towards Down syndrome screening.

Prenatal Diagnosis, 20(1), 23 – 29.

Brown, P., & Levinson, S. (1987). Politeness. Cambridge: Cambridge

University Press.

Bryant, L., Murray, J., Green, J. M., Hewison, J., Sehmi, I., & Ellis, A.

(2001). Descriptive information about Down syndrome: a content

analysis of serum screening leaflets. Prenatal Diagnosis, 21,

1057 – 1063.

Burke, B. M., & Kolker, A. (1994). Variation in content in prenatal

genetic counseling interviews. Journal of Genetic Counseling, 3

(1), 23 – 38.

Cameron, D. (2001). Working with spoken discourse. London: Sage.

Carroll, J. C., Brown, J. B., Reid, A. J., & Pugh, P. (2000). Women ’s

experience of maternal serum screening. Can Fam Physician, 46 ,

614 – 620.

Dunne, C., & Warren, C. (1998). Lethal autonomy: the malfunction of

the informed consent mechanism within the context of prenatal

diagnosis of genetic variants. Issues Law Med, 14(2), 165 – 202.

Evans, M. I., & Wapner, R. J. (2005). Invasive prenatal diagnostic

procedures 2005. Seminars in Perinatology, 29(4), 215 – 218.

Fuchs, K. M., & Peipert, J. F. (2005). First trimester Down syndrome

screening: public health implications. Seminars in Perinatology,

29(4), 267 – 271.

Gates, E. A. (2004). Communicating risk in prenatal genetic testing.

Journal of Midwifery & Women’s Health, 49(3), 220 – 227.

Goldworth, A. (1999). Informed consent in the genetic age. Cam-

bridge Quarterly of Healthcare Ethics, 8, 393 –

400.Green, J., Hewison, J., Bekker, H. L., Bryant, L., & Cuckle, H.

(2004). Psychosocial aspects of genetic screening of pregnant

women and newborns: a systematic review. Health Technology

Assessment, 8(33).

Green, J., & Statham, H. (1996). Psychosocial aspects of prenatal

screening and diagnosis. In T. Marteau & M. Richards (Eds.), the

troubled helix: Social and psychological implications of the new

human genetics. Cambridge: Cambridge University Press.

Hallowell, N., Statham, H., Murton, F., Green, J., & Richards, M.

(1997). “Talking about chance”: the presentation of risk

information during genetic counseling for breast and ovarian

cancer. Journal of Genetic Counseling, 6 (3), 269 – 286.

Hodgson, J., & Spriggs, M. (2005). A practical account of autonomy:

why genetic counseling is especially well suited to the facilitation

of informed autonomous decision making. Journal of GeneticCounseling, 14(2), 89 – 97.

Jaques, A., Sheffield, J. J., & Halliday, J. L. (2005). Informed choice in

women attending private clinics to undergo first-trimester screen-

ing for Down syndrome. Prenatal Diagnosis, 25(8), 656 – 664.

Karp, L. (1983). The terrible question. American Journal of Medical

Genetics, 14(1), 1 – 4.

Kessler, S. (1979). The genetic counseling session. In S. Kessler (Ed.),

Genetic counseling: Psychological dimensions (pp. 65 – 105).

New York: Academic.

Kessler, S. (1997). Psychological aspects of genetic counseling. X.

Advanced counseling techniques. Journal of Genetic Counseling,

6 (4), 379 – 391.

36 Hodgson et al.


16/16

Marteau, T. M., Dormandy, E., & Michie, S. (2001). A measure of

informed choice. Health Expect, 4(2), 99 – 108.

Marteau, T. M., Johnston, M., Plenicar, M., Shaw, R. W., & Slack, J.

(1988). Development of a self-administered questionnaire to

measure women’s knowledge of prenatal screening and diagnos-

tic tests. J Psychosom Res, 32(4 – 5), 403 – 408.

Matloff, E. (1994). Practice variability in prenatal genetic counseling.

Journal of Genetic Counseling, 3(3), 215 – 231.

McCarthy Veach, P., LeRoy, B. S., & Bartels, D. (2003). Facilitating

the genetic counseling process: A practice manual . New York:Springer-Verlag.

Meiser, B., Irle, J., Lobb, E., & Barlow-Stewart, K. (2008). Assessment

of the content and process of genetic counseling: a critical review

of empirical studies. J Genet Couns, 17 (5), 434 – 451.

Mitchell, L. M. (2004). Womens experiences of unexpected ultrasound

findings. Journal of Midwifery & Women’ s Health, 49(3), 228 – 234.

Moreira, C., Muggli, E., & Halliday, J. (2008). Report on prenatal

diagnostic testing in Victoria 2007 : The Murdoch Childrens

Research Institute, Victorian Perinatal Data Collection Unit and

The Consultative Council on Obstetric and Paediatric Mortality

and Morbidity.

O’Connor, A., & O’Brien-Pallas, L. (1989). Decisional conflict. In G.

McFarland & E. McFarlane (Eds.), Nursing diagnosis and interven-

tion: Planning for patient care (pp. 486 – 496). St Louis: Mosby.

Rapp, R. (1999). Testing women, testing the fetus: The social impact

of amniocentesis in America. New York: Routledge.

Rice, P. L., & Ezzy, D. (1999). Qualitative research methods: a health

focus: Oxford University Press.

Rothman, B. K. (1986). The tentative pregnancy: Prenatal diagnosis

and the future of motherhood . New York: Viking.

Sahhar, M. A., Young, M.-A., Sheffield, L. J., & Aitken, M. (2005).

Educating genetic counselors in Australia: developing an

international perspective. Journal of Genetic Counseling, 14(4),

283 – 294.

Smith, D. K., Shaw, R. W., & Marteau, T. M. (1994). Informed consent

to undergo serum screening forDown’s syndrome: thegap between policy and practice. British Medical Journal, 309(6957), 776.

Tsianakas, V., & Liamputtong, P. (2002). Prenatal testing: the

perceptions and experiences of Muslim women in Australia.

Journal of Reproductive and Infant Psychology, 20(1), 7.

Tymstra, T. (1989). The imperative character of medical technology

and the meaning of “anticipated decision regret ”. Int J Technol

Assess Health Care, 5(2), 207 – 213.

Weil, J. (2000). Psychosocial genetic counseling . New York: Oxford

University Press.

Weinans, M. J., Kooij, L., Muller, M. A., Bilardo, K. M., Van Lith, J. M.,

& Tymstra, T. (2004). A comparison of the impact of screen-positive

results obtained from and biochemical screening for Down

syndrome iultrasound n the first trimester: a pilot study. Prenatal

Diagnosis, 24(5), 347 – 351.

Woofitt, R. (2005). Conversation analysis and discourse analysis.

London: Sage.


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