Did you find that out in time?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely

Authors

  • Chriselle L. Hickerton,

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
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  • MaryAnne Aitken,

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
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  • Jan Hodgson,

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
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  • Martin B. Delatycki

    Corresponding author
    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia
    3. Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
    • Director, Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Victoria, Australia.
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  • How to Cite this Article: Hickerton CL, Aitken MA, Hodgson J, Delatycki MB. 2012. “Did you find that out in time?”: New life trajectories of parents who choose to continue a pregnancy where a genetic disorder is diagnosed or likely. Am J Med Genet Part A 158A:373–383.

Abstract

The availability of tests to detect genetic conditions prenatally has expanded considerably in recent decades. These advances allow women and couples choices; the choice of whether or not to undergo prenatal screening or diagnosis and therefore the choice whether to continue or terminate a pregnancy. Following prenatal testing many people choose to terminate an affected pregnancy, however little is known about the experiences of parents who choose to continue such a pregnancy. This exploratory qualitative study involved in-depth interviews with five mothers and four fathers who experienced a pregnancy where a genetic diagnosis was, or could have been, detected prenatally. Transcripts of the interviews were analyzed using thematic analysis. While the participants' experiences of genetic diagnoses and prenatal choices varied, findings revealed three major categories triggering new life trajectories for all of these parents: knowledge of reproductive risk and receiving a genetic diagnosis; adapting to diagnosis and new life path; and attitudes to prenatal diagnosis and disability. Parents reported that while dealing with their own attitudes and getting on with their “new world,” positive and negative attitudes of others impacted on these parents' experiences. A conceptual model arising from the major themes is offered as a way of thinking about this paradigm. Parents who continue a pregnancy where a genetic condition is detected or suspected prenatally, can be supported appropriately by health professionals while adjusting to their new life path. © 2011 Wiley Periodicals, Inc.

INTRODUCTION

Advances in prenatal screening and testing have sparked much debate about the benefits and harms of such technology. Perceived benefits include: the ability to reduce the incidence of genetic conditions, and helping people have a healthy child without the “burden” of disability [Dulbecco, 1995; Kolker and Burke, 1998]. In addition, there are health economic considerations, as having a child with a disability can be a significant cost to the family and the community [De Crespigny et al., 1998]. Others suggest that such technology provides choice [Garel et al., 2002].

In contrast, there has been much debate about whether prenatal testing devalues the life of a person with a disability. Many disability activists believe disability is a social issue not a medical one [Shakespeare, 2000; Kerr and Shakespeare, 2002; Parens and Asch, 2003]. Some people with a genetic condition believe genetic testing has a negative effect on their community [Middleton et al., 1998; Stern et al., 2002]. Other individuals with a disability by contrast, believe that advances in genetics are a positive step toward helping individuals gain knowledge and therefore promote understanding and health [Chen and Schiffman, 2000].

In the developed world, prenatal screening and diagnostic tests such as screening for trisomy 21 and thalassemia carrier status, have become almost routine and an expected part of antenatal care [Moyer et al., 1999; Erikson, 2003]. This may call into question the decisions of parents who choose against such tests or choose to continue a pregnancy where a genetic condition is detected. The “choice” of having prenatal diagnosis may be constrained as some view it as a routine procedure and necessary to be a responsible citizen [Sandelowski and Corson Jones, 1996].

Many studies have investigated different aspects of prenatal screening or testing and the impact on parents. It appears that people are more likely to accept prenatal testing if they perceive an abnormality to be more serious and that choices are also based on their perceived ability to cope with a child with a disability [Ekwo et al., 1987; Moyer et al., 1999]. It has also been suggested that health professionals and lay groups sometimes make judgements about women's decisions to continue a pregnancy in the case of a child with a disability. A woman who declines testing or continues a pregnancy where a fetal anomaly has been detected, may be seen as more to blame and less deserving of sympathy compared to a woman who did not have the option of testing [Marteau and Drake, 1995; Lawson, 2003].

After prenatal diagnosis reveals a genetic condition, women have a choice to continue or terminate the pregnancy. The percentage of terminated pregnancies can depend upon the specific genetic condition and may differ slightly from country to country. Termination of pregnancy for Down syndrome (DS) diagnosed prenatally has been reported as 92% in Europe [Mansfield et al., 1999], 95% in the USA [Siffel et al., 2004], and 95% in Australia [Collins et al., 2008]. The numbers appear to be slightly lower for other conditions such as anencephaly, spina bifida [Mansfield et al., 1999], and sex chromosome aneuploidy [Quadrelli et al., 2007].

Recent studies exploring parents' experiences of continuing a pregnancy where a genetic condition has been detected prenatally have identified different factors that may impact on parents' experiences such as: lack of information and support; making choices and making sense of those choices; and the way they cope with their situation [Sandelowski and Corson Jones, 1996; Petrucelli et al., 1998; Chaplin et al., 2005; Skotko, 2005]. Chaplin et al. [2005] interviewed parents who chose to continue their pregnancy where spina bifida was diagnosed prenatally. Their findings revealed five domains: response to diagnosis; experience of medical systems; information gathering; decision-making regarding termination or continuation of pregnancy; and responses of significant others. Most of these studies focus on one particular condition and none focus on attitudes to disability and how that may affect a person's experience of this phenomenon. One commentator, Tankard Reist [2006], documented the stories of women who continued “at risk” pregnancies. One of the main themes discussed was the resistance of members of the medical profession to embrace their decision to continue the pregnancy. Reist discussed this in terms of attitudes to disability in her introduction and conveyed a very negative perspective of the medical profession.

While most studies have concentrated on the maternal experience alone [Ekwo et al., 1987; Kramer et al., 1998; Moyer et al., 1999; Skotko, 2005; Remennick, 2006] a few studies have included both maternal and paternal experiences [Fanos and Mackintosh, 1999; Chaplin et al., 2005; Kukulu et al., 2006]. Locock and Alexander [2006] originally focused on women's accounts of prenatal screening, diagnosis, and decision-making, however they discovered that the male partners' role was an important aspect of the experience. Other studies have also touched on the male partners' involvement and influence in decision-making about prenatal diagnosis and also found they play a key role in the process [Browner and Preloran, 1999; Kenen et al., 2000]. Lafans et al. [2003] noted that genetic counselors had little training in how to deal with paternal involvement in prenatal genetic counseling. In addition, to date there has been little emphasis on exploring the maternal and paternal perspectives separately.

The focus of this qualitative study was to explore how parents experience continuing a pregnancy where a genetic condition was, or could have been, detected prenatally. Specific aims of this project were to explore in depth: (i) the parental experience of continuing a pregnancy with a high reproductive risk or confirmed genetic diagnosis and (ii) to what extent attitudes to disability and prenatal testing impacted on this experience.

MATERIALS AND METHODS

Ethics Committee Approval

This project was approved by the Human Research Ethics Committees of the Department of Human Services Victoria and the University of Melbourne.

Methodology

Very few studies have investigated the phenomenon of continuing an affected pregnancy as well as the impact of attitudes to prenatal diagnosis and disability. For this reason a grounded theory approach was used to provide an exploration of the range of experiences of families who have children with different genetic diagnoses. Grounded theory was originally developed by Glasser and Strauss [1967] and describes a systematic process for collection and analysis of data that allows construction of theories “grounded” in the data [Charmaz, 2006]. Using this approach, parents' experiences and interpretation of their situation were explored and common threads between families' experiences were observed.

Sampling

Inclusion criteria for this study were:

  • (1)Participants were over the age of 18 years,
  • (2)Fluent in English and
  • (3)Had a child aged <10 years who had a prenatal genetic diagnosis or high reproductive risk of a genetic condition prenatally.
  • (4)Parents who continued a pregnancy after a prenatal genetic diagnosis (including any type of genetic diagnosis or condition); or parents who knew they were at high risk of having a child with a genetic diagnosis and chose not to have prenatal testing (therefore choosing that they would continue a potentially affected pregnancy).

Purposive sampling was used to select participants who had experience with the phenomenon in question. This allowed for a rich data set rather than relying on a large sample size to generate large quantities of data [Starks and Brown Trinidad, 2007].

Recruitment of Participants

Participants were recruited for the study via advertising in the newsletter of the Genetic Support Network of Victoria, the umbrella organization for genetic support groups in Victoria, or through receiving a letter of introduction about the study from staff at Genetic Health Services Victoria, the major clinical genetics service for Victoria and Tasmania, Australia.

Interviews

Semi-structured face-to-face interviews were conducted with eligible participants by CH, ranging from 30 min to 2 hr duration. The interview schedule included prompts about: the participants' experience of their pregnancy; views of and experience with prenatal screening and diagnosis; their previous experience of disability or genetic conditions and their encounters with health professionals, family, and friends. All of the participants chose to be interviewed in their own homes. Interviews were audio-taped, transcribed verbatim and de-identified. Participants were assigned a pseudonym. The mothers and fathers in each couple were interviewed separately. The aim of this was to obtain a true representation of each parent's experience without the influence of the other parent during the interview.

Data Analysis

Data were coded into themes using a constant comparative approach [Glasser and Strauss, 1967], which involved comparisons between experiences, actions, and interactions. Themes were continuously refined with a focus on similarities and differences between the parents' experiences and then placed in the overarching categories. Interview transcripts were stored and coded within NVivo 7 (Qualitative, Doncaster, Victoria, Australia Solutions and Research International Pty Ltd, Australia), a qualitative research software package.

Interview transcripts were coded independently by CH, MA, and JH. Themes were discussed and consensus was reached through an iterative process.

RESULTS

Nine participants representing five couples met inclusion criteria and were interviewed. The sample consisted of five mothers and four fathers of children with five different genetic diagnoses: spinal muscular atrophy (SMA), cystic fibrosis (CF), DS, extra marker chromosome, and skeletal dysplasia. Mothers and fathers were interviewed separately. All the couples were married and lived together. Table I presents information regarding the parents' pregnancies and which health professionals were involved in their experience. Several participants referred to different pregnancies throughout the interviews. Figure 1 reveals the varied choices of parents in this study regarding prenatal diagnosis.

Table I. Details of Participants' Pregnancies
Individual/couplePseudonym(s)Details of number of pregnancies, type of prenatal diagnosis and/or screeningHealth professionals participants' mentioned: involved in their prenatal care and/or diagnosis of highlighted pregnancy
  • a

    Sandra's child who had the extra marker chromosome detected prenatally, is healthy without evidence of ill effect at 2 years.

  • b

    Craig and Melanie both have a different autosomal dominant skeletal dysplasia.

1Sandra1st pregnancy—Amniocentesis, clear resultObstetrician
2nd pregnancy—Amniocentesis, extra marker chromosome detectedaGeneticist
 Genetic counselor
2Louise and Steve1st pregnancy—Postnatal diagnosis of SMA during 1st trimester of 2nd pregnancyPaediatrician
 Geneticist
2nd pregnancy—CVS, SMA diagnosedNeurologist
3rd pregnancy—CVS, clear resultAllied Health Professionals
3Marie and Dave1st pregnancy—UnaffectedGP
2nd pregnancy—Prenatal testing not offered, postnatal diagnosis of CFGenetic counselor
3rd pregnancy—Prenatal diagnosis declined, postnatal diagnosis of CF 
4Tessa and Tim1st pregnancy—UnaffectedObstetrician
2nd pregnancy—Ultrasound which led to amniocentesis, DS diagnosedUltrasonographer
 Midwife
3rd pregnancy—UnaffectedDeclined genetic counseling
5Melanie and CraigbFour children postnatal diagnosis of a skeletal dysplasia. Parents knew of high risk, declined prenatal diagnosisGP
 Geneticist
Figure 1.

Varied prenatal pathways of participants

Participants' stories about their experiences naturally fell into three broad areas: (i) Knowledge of the reproductive risk and receiving the diagnosis; (ii) adapting to diagnosis and new life path; and (iii) dealing with attitudes to disability and prenatal testing.

Knowledge of the Reproductive Risk and Receiving the Diagnosis

When parents spoke about the experience of finding out their high risk and/or confirmation of a diagnosis and of the choice of terminating or continuing the pregnancy the major themes from this dialogue were: the decision to test or not to test; emotional reactions to the diagnosis; and making difficult choices.

“I just didn't know if I'd really need it:” Questioning the need for prenatal testing

The experience of screening and prenatal testing varied for participants. From the outset, all of the couples in this sample had reservations about testing and participants were cautious about whether they really needed the procedure. In two cases diagnostic testing was declined while those who went ahead with testing spoke about a possible influence of health professionals on the decision to test:

“…there was no problem with having an amnio but I just didn't know if I'd really need it, but [the obstetrician] did suggest, ‘Perhaps because of your age we should’, … ‘cause I was 39… that's why I went ahead and… I was going through the ultrasound anyway and it's the same place, same person so…”

Sandra: Mother of 1 child with extra marker chromosome.

Another mother, Tessa, spoke of her experience during her ultrasound:

“…he said, ‘Look, I think we should do an amnio’, and I said, ‘Oh look I don't know’. And he said, ‘Well it's just, you know, you can go away or you can do the amnio now while you're here and your car's parked. You don't have to come back and pay again’. It was just bizarre, the logic behind doing it now, and now I realise it was because the result will come back quicker and we can get rid of it quicker.”

Tessa: Mother of one child with DS.

“It was a real shock:” Emotional reactions to the diagnosis

For parents in this study, learning about the diagnosis of their child was fraught with many emotions. Receiving a prenatal diagnosis proved to be a time of shock for the participants, as Sandra recalled:

“…got the phone call… I can still remember (laughs), I just fell to the ground, I just thought, ‘Oh my god, my legs are gonna give way, sit down’. So I sat on the ground… and then I tried to comprehend the news…”

Sandra: Mother of one child with extra marker chromosome.

This unexpected diagnosis required the participant to rapidly adjust their expectations about the pregnancy:

“…I never even considered… that I would have a child with a disability and you assume you don't, because it only happens to one in 100, one in 200, …you think you're not going to be the one… it was [a] real shock and we were obviously totally rattled.”

Tim: Father of one child with DS.

Participants spoke about what was happening in their lives around the time of diagnosis and when choosing to continue their pregnancies. Other events such as illness in the family or unsettled home life impacted some participants.

“…and [at] that time our life was a bit of a mess because we'd sold the house and we were house sitting… it was pretty horrendous for that whole time… and still going on with the 10 month old baby that we had and me being pregnant.”

Louise: Mother of two children with SMA.

Participants spoke of these emotions not just confined to the time of diagnosis but throughout their changed life path.

“Do you still want to have this baby?”: Making difficult choices

The process of diagnosis and choosing to continue the pregnancy was described as an agonising time for all parents, especially challenging for those who had prenatal testing (see Fig. 1). Louise and Steve's first child was diagnosed with SMA while they were pregnant with their second baby. Prenatal diagnosis confirmed SMA in the second pregnancy:

“You find out your child's got this and then the one you're carrying has and then you don't really know what your life's gonna entail… that was a bit hard… ‘cause one week you're excited and everybody knows you're having a baby and the next week you think, ‘Well… there's something wrong’. And people are saying, ‘Well, do you still want to have this baby’? and you think, ‘Well yeah last week I did [laughed a little] why wouldn't I want to this week’? …Steve and I agonised over it and decided that we would have the baby…”

Louise: Mother of two children with SMA.

Reasons for being apprehensive about screening and testing included being worried about the risk of miscarriage, lack of knowledge of the condition or considering it a moral dilemma, as Steve discussed:

“We were then faced with not only the dilemma …[of] raising a child with a …terminal disability but also …the moral decisions of, ‘Okay, we'll do the testing, and then what do we do after that? Do we terminate or do we continue on’? So there's another sort of moral decision [that] never would normally have entered our minds.”

Steve: Father of two children with SMA.

Some participants who had prenatal testing were more uncertain about what decision they might make, others were definite about what they would do:

“…abortion was never something that I… really agreed with. I mean each case is different obviously. I'd read things, seen a video about abortion early on. I was quite anti-abortion so it was something that, even though being a young dad I was quite stressed about the whole pregnancy idea and having a child… it was always something, as far as I felt, we were gonna go through with…”

Craig: Father of four children with skeletal dysplasias.

When speaking about the choice to continue the pregnancy, participants primarily spoke of personal reasons such as not agreeing with termination of pregnancy or their perception of quality of life for the child. Although four of the individuals considered themselves to be religious, this was not stated as a primary reason for continuing the pregnancy.

Four participants spoke of concern of risk of miscarriage in prenatal diagnosis. In some cases that risk was higher than the chance of having a child with a genetic condition. In two cases there was a lack of information provided to couples about the risk of miscarriage. Most parents indicated a negative view of prenatal testing either due to: risk of miscarriage; pressure to terminate the pregnancy if affected; making a decision to continue a pregnancy based on no prior knowledge of the condition or unknown phenotypic outcome; or facing a moral dilemma. In contrast, none of the participants who did undergo prenatal diagnosis said they wished they hadn't done so. Two participants spoke of preparation and time they had between prenatal testing and the birth. This seemed to be a very emotional time where they experienced a lot of grieving before the birth, which appeared to help them bond with their child when they were born.

Adapting to Diagnosis and New Life Path

When parents spoke of living with and adapting to the diagnosis the major themes that arose included: coping and adjusting to a different life path; receiving support; and reflecting on a changed life path.

“I really astounded myself:” Adjusting to a different life path

Parents talked about initially coping by taking 1 day at a time during the pregnancy and after the birth and accepting the diagnosis, as illustrated in the following quote from a mother who received a prenatal diagnosis of DS:

“…I cried for four months… four hours a day. I really did. And that's all healthy …But, you know, it's life. And I remember saying to Tim, ‘Look, I'm having this baby and I love her like I love the others but I don't want to go in the nursery [at the hospital]. I just don't want to see other babies’. …But I'll tell you, what I thought I would do and what I did was so different. I didn't shed a tear in the hospital. I went straight into the nursery and people were looking at Emma, and I looked across at a mum who held a baby and I thought I would be so envious or upset – but I wasn't. I really astounded myself…”

Tessa: Mother of one child with DS.

“Other people are on this journey too:” Receiving valuable support

Participants discussed receiving valuable support within their relationships. While they spoke of this as bringing them closer together it was not without considerable stress:

“It makes you closer in some ways but I think it puts a big strain on your relationship, on your marriage…”

Louise: Mother of two children with SMA.

Participants also spoke of invaluable support from family and friends and especially from other families in similar situations:

“You realise other people are in this, on this journey too, and it makes it so much easier.”

Tessa: Mother of one child with DS.

Of particular value were support networks that the parents had established which included relevant health professionals:

“I've had great support here with the specialist… my local doctor… then I've got my own little supports throughout the area as well.”

Marie: Mother of two children with CF.

“It's broadened my perspective and a whole new world:” Reflecting on a changed life path

All of the parents spoke of reframing their original expectations. This was also true of the couple who had skeletal dysplasias as they expected their children to have a similar life to themselves with very little medical involvement which turned out not to be the case. Some parents looked for explanations as to why this had happened to them and often felt it was due to “fate.” Before the diagnosis many parents had envisaged a particular life path for their child; once they received the diagnosis, this path changed direction, requiring the parents to make sense of and reassess their view of the future:

“…you set in your mind that you're going to have a child. They're going to grow up and go to school, study, go to uni. They're going to have a boyfriend, get married, sex, have children. You know, the whole cycle of life… and suddenly there's that loss that all that is not going to happen, or not going to happen in the way that you expected it to… that was your mental path for your child… and suddenly you've not got that path, and you can't see where you're going and you know you're not going to get back onto that path ever again… It's changed for the better. It's broadened my perspective and a whole new world…”

Tim: Father of one child with DS.

This reflection of a changed life path was particularly evident in the fathers within this sample, as Steve also states:

“…you belong to a secret club, you take interest in how it affects people's lives, that whole point of when they were diagnosed doesn't just impact you then, it impacts your whole way of looking at life…. I realise that now seven, eight years on down the track.”

Steve: Father of two children with SMA.

Dealing With Attitudes to Disability and Prenatal Testing

Parents also spoke about their own and community attitudes to disability and prenatal testing, which were interwoven throughout their experience of choosing to continue a pregnancy resulting in a genetic diagnosis. Parents discussed their previous experience of disability, attitudes of friends and family, and attitudes of health professionals. Health professionals’ comments and attitudes had a profound impact on parents’ experiences. Their comments ranged from positive and optimistic to negative and discouraging.

Participants' previous experience of disability was varied, which may have contributed to their initial attitudes and reactions when first receiving the diagnosis. Some had little or no experience with disability or the condition their child had been diagnosed with, some had experience through family or friends and two of the participants had prior knowledge and experience of having a genetic condition themselves.

“Maybe you should have an abortion:” Coping with challenging attitudes

Most of the participants recall at least one family member not agreeing with the choices they made to continue their pregnancy. This was particularly evident for Tim and Tessa:

“Then she [mother in-law] said, ‘I know this is a terrible thing to say but maybe you should have an abortion’…. It's taken seven years but we're now not in touch…. When she was born in the hospital my father-in-law just looked at her and said, ‘All I can see is the Downs’. That was his comment.”

Tessa: Mother of one child with DS.

Tim recounts how his family found it hard to accept their decision to continue their pregnancy and this continued well after the birth of their child, Emma:

“…I got zero support from my family and they made it very clear that they didn't really want Emma to be part of their lives and focused a lot more on [our other two children], with presents. To the point that one day [small laugh] …my mother turned up with two scarves, which she'd knitted, one for Felicity and one for Tegan. And Tessa said, ‘It's just outrageous’. She said, ‘What about Emma?’ ‘Oh she'll never notice’. And she did! [small laugh] She was crying. See she wants to be like her sisters.”

Tim: Father of one child with DS.

All of the participants spoke of challenging encounters with health professionals throughout their experience.

“…this midwife said, ‘Oh what are you doing here?’ And I said, ‘Oh Emma's got a heart problem so I'm just being monitored’. And she said, ‘Oh has she? Is she all right otherwise?’ And I just said, ‘No she's got Downs’. And she said, ‘Oh, did you find that out in time?’…. And I felt a bit disappointed…”

Tessa: Mother of one child with DS.

“…[The GP] said to us both, ‘You know, you might want to consider whether or not you want to bring another child like yourselves into the world’.”

Melanie: Mother of four children with skeletal dysplasias.

“Friends drop off”: The changing nature of relationships

Some parents spoke about losing friends or reassessing some friendships following the diagnosis of the genetic condition. Parents often cited the reasons for this as: Friends having limited awareness; the friends feeling like the parents pushed their attitude onto their friends; or friends attracted to “crisis situations:”

“…there's an element of people being around when it's new and exciting… they get some reflective glory from being… associated with us… ‘Yeah, Louise and Steve, they're our friends, they've got…’. There's sort of a novelty… that probably sounds terrible but that's the way I've felt…. So those sort of people drop off when the excitement, if you can call it that, wears down…”

Louise: Mother of two children with SMA.

“People first rather than just the diagnosis”: Focusing on the positives and respecting choices

Despite receiving negative comments from family members, most of the participants spoke of acceptance and positive outlooks from close family at some stage. Tessa explained her parents' optimistic outlook:

“…we rang my parents… and they just said, ‘Look, she'll keep us all alive and she's come to a great family’ [crying]… they could see the big picture…”

Tessa: Mother of one child with DS.

The following two comments from Steve and Melanie illustrate how health professionals played an important role in making their experiences positive:

“…immediately [the health professional's] focus was on what we can do, not what we can't… it was our decision… he [health professional] was fully supportive of that so he didn't push any of his theories or anything on us so that was good…”

Steve: Father of two children with SMA.

“…they presented the information very sensitively, and I so appreciate that. I look back on that day and think, they handled it well. They saw who we were as people first rather than just the diagnosis.”

Melanie: Mother of four children with skeletal dysplasias.

DISCUSSION

This study provides a unique and valuable insight into the parental experience of continuing a pregnancy which may be affected by a genetic condition. Findings suggest that when parents choose to continue a pregnancy after receiving a prenatal genetic diagnosis or an increased risk result they enter a new life path. This requires parents to readjust their expectations about their child's future as well as learning to cope with and adjust to the challenges that face them and their children. Their journey along this path was both helped and hindered by attitudes and opinions of family, friends, health professionals, and the general community. This study adds a new dimension to other studies as it explores the impact of attitudes to disability on the parents' experience.

For parents, knowledge of their reproductive risk and receiving the diagnosis of a genetic condition in their child was a life changing event and several key aspects impacted on their experience. Firstly, the experience was fraught with many emotions particularly when they were considering choices about testing and termination of pregnancy. This confirms findings in previous studies [Rothman, 1993; Petrucelli et al., 1998; Chaplin et al., 2005; Locock and Crawford, 2005]. Secondly, parents were faced with the challenge of dealing with a change in their expectations about their child's future and mourning the loss of the child they expected as also discussed in previous studies [Fanos and Mackintosh, 1999; Locock and Crawford, 2005; Lalor et al., 2009]. Our study also highlights the role that other life events such as family illness or instability in other aspects of life can play in compounding the experience. There was limited discourse about how the prenatal diagnosis or knowledge of high risk affected the pregnancy as described in other literature [Rothman, 1993], although two of the participants spoke of having prenatal diagnosis to find out and prepare and of the grief associated with that process.

It is likely that parents' positive outlook and adaptation in this study relates to the concept of resilience. Resilience is described as an active process where people can rebound from a challenge or crisis with renewed strength and growth [Walsh, 2006]. It is also described in a qualitative study of mothers of children with an intellectual disability [Gardner and Harmon, 2002].

While couples in this sample reported stress on their relationship, they were still able to support each other, as shown in previous literature [Rothman, 1993; Chaplin et al., 2005; Gardner and Harmon, 2002]. This differs from findings of other studies that found a bigger divide between some couples [Phillips et al., 1985; Rothman, 1993] or where the fathers left the home or were not able to emotionally support their families [Fanos and Mackintosh, 1999]. The small sample size in the current study does not allow comment on the frequency of separation as a result of having a child with a disability.

In addition to receiving support from partners, friends, and family, most participants in the current study valued contact with support groups and families in the same situation. Building support networks consisting of support groups, physicians and other professionals was also valuable. The importance of support from disability related contacts for parents has also been found in other studies [Petrucelli et al., 1998; Gardner and Harmon, 2002; Chaplin et al., 2005]. Hill et al. [2003] recommended giving parents information about support groups at the time of diagnosis as parents in their study found this to be extremely useful. Our results and the findings of others suggest that fathers may benefit from increased support. Fanos and Mackintosh [1999] found that the change of life path was strongly experienced by fathers. Similarly, in our study fathers described feeling a sense of loss and grief at not having a “normal” family life.

The mothers in this study tended to focus more on the immediate future and as the main caregiver, dealing with the immediate needs of the child. The fathers appeared to be more focused on the long-term future and were more explicit about embarking on a new life path and how it took a huge shift in their thinking to adapt. This may reflect their different role within the family. It is also worth noting that for these fathers it had been 4 years or more since diagnosis and that a parent at the time of diagnosis may not be as reflective. It has been reported previously in a study of mothers of children with a disability, that it took up to a year or more to reach a period of “self-transcendence” after diagnosis, where they were able to more positively reflect on their situation (Wright, 2008).

The third dimension in the parents' new life path shows that because individual and community attitudes to disability and prenatal testing existed before the parents found out about the diagnosis, they not only found themselves dealing with their own prior attitudes to disability and prenatal testing, but also views and attitudes of others. This had both a positive and negative impact on parents' experiences. While participants' previous experience of disability varied, for most, a new awareness about disability emerged from their own experiences.

Parents received mixed reactions from friends, family, and health professionals. A previous study reported that pressure to continue an affected pregnancy came from mothers-in-law or sisters [McCoyd, 2007]. Friends seemed to be less likely to offer their opinion about whether to continue or terminate the pregnancy whereas family members did so more freely. While most family members seemed to be supportive and accepting of the participants' decision to continue the pregnancy, many parents mentioned at least one family member who was vocal about the need to terminate the pregnancy. Perhaps there is a different culture within families where relatives are more comfortable to express their opinions than are friends. Families function with particular beliefs and values, however within families there may be differences in perceptions regarding the acceptability of terminating or continuing an affected pregnancy [Weil, 2000]. These differences may have intensified the experience of participants within this study. All of the parents also made new friendships through meeting other families in a similar situation, therefore, bringing a sense of normality into their lives. Many parents reflected that their personal growth and new outlook may have resulted in them losing some previous friendships.

Health professionals appeared to impact parents' experiences on an emotional level. It is clear that the journey was difficult but ultimately parents' talked about feeling comfortable with their decision to continue their pregnancy. The participants felt health professionals needed to be compassionate, non-judgmental and understanding. Parents did experience those qualities from some health professionals but this was not always the case. For a health professional to question the parent's autonomy at this time added extra emotional strain to the situation. Health professionals' attitudes toward their patients and the manner in which they practice have been well documented. There are many health professionals who self-report as facilitating informed decision-making and respecting patient autonomy [Marteau et al., 1994; Favre et al., 2009]. However there have also been a number of health professionals involved in the prenatal setting who report that they counsel directively [Marteau et al., 1994; Favre et al., 2009]; encourage prenatal testing [Rothman, 1993]; are more supportive of termination of pregnancy than their patients [Dery et al., 2008]; and who have generally given advice based on their own personal choices [Bramwell and Carter, 2001]. This was certainly experienced by some of the participants in the current study. In these cases, it appears to have had several implications for the parents: diminished their autonomy; reduced the likelihood of making an informed decision based on accurate information and freedom to deliberate about what the implications would be for themselves and their family. Hodgson and Spriggs [2005] emphasized the importance of dialogue in providing accurate information about the various options available in a prenatal setting to support autonomous informed decision making. This is a particular focus in genetic counseling, however not all of the couples in the current study accessed genetic counseling, particularly in the early stages of the pregnancy where the general practitioner or obstetrician usually discussed prenatal testing options. Additionally, the manner in which a diagnosis is conveyed can have a significant role in parents' adjustment and outlook [Hill et al., 2003]. Lalor et al. [2007] reported that there is still room for improvement in the way a diagnosis is communicated to parents. This may also be the case for how health professionals support an individual or couple through the choices of prenatal testing.

The initial aim of this study was to explore attitudes parents' experienced from others over the course of pregnancy through to after birth. What unfolded were many other factors that had an impact on their experience. Undoubtedly, parents of children with different genetic conditions experience different challenges due to the particular condition as well as options for prenatal screening or testing. Despite this, many similarities between experiences were observed. What emerged from the interviews were rich, complex stories about a new life trajectory that the parents embarked on after learning of their child's genetic diagnosis. A trajectory is traditionally known as a pathway that occurs in stages. However, in the sense of grounded theory its meaning suggests that it is a process which includes experiences and changes in actions and interactions over time [Wiener, 2007]. Exploring the life trajectories of the parents revealed a multi-dimensional picture where many factors played a part in a parents' experience of continuing a pregnancy where a genetic condition was diagnosed prenatally. We present a conceptual framework (Fig. 2) designed to represent the overall experience for all of the couples in this study. The model captures overarching components which include: “receiving the diagnosis;” “adapting to diagnosis and new life path;” and “attitudes to disability and prenatal testing.” The data for each component has so far been presented separately, however they are not separate entities, each exists within the other. Furthermore, the parents in this study spoke of many different emotions, supports leading to adaptation to their new life path and negative aspects they experienced throughout this journey. These are also represented in the diagram as underlying the whole experience. The emotions experienced by participants are highlighted underneath the model and the range of supports shown separately in Table II.

Figure 2.

Conceptual framework: Parents who continue a pregnancy after prenatal genetic diagnosis or high risk pregnancy.” Range of emotions experienced by parents include shock, grief, loss, sadness, disbelief, guilt, anger, confusion, happiness, relief, love, pride, shame, change in expectations.

Table II. Details of Supports and Parental Emotions as Highlighted in Conceptual Model
Supports experienced by parents from family, friends and health professionals
PositiveNegative
Positive outlookDramatic or negative outlook
Receiving accurate informationJudgmental attitudes—not respecting parents' autonomy
Extra time offered to see health professionalsLooking at diagnosis first rather than individual
Individual first rather than diagnosisNot given accurate information
Supporting parents' decisionsNot given a chance to make an informed decision
Non directive supportNegative attitudes toward disability
CompassionReceiving encouragement to test and/or to terminate pregnancy
Open mindedness 
Referral to support services 
Support from other families 

In exploring parents' experiences in the context of the published literature, it is apparent the focus of the findings of this study differs from previously proposed frameworks and models. Chaplin et al. [2005] proposed five domains which address similar concepts, however does not explicitly show the attitudes to disability and prenatal diagnosis as a surrounding factor of the experience of parents. “Recasting Hope” [Lalor et al., 2009] focuses on dealing with the grief associated with the loss of an expected child. Our framework does touch on this phenomenon; however our findings show that this is just one aspect of parents' experiences. Therefore, our framework aims to encompass the whole experience and provide an understanding of how attitudes and actions can have a major impact on parents. Findings of this study further support the findings of Chaplin et al. [2005] in relation to health professionals who support these parents.

The emotions described by participants who had prenatal diagnosis are very similar to those emotions expressed by parents who experience a postnatal diagnosis of disability [Hill et al., 2003; Nusbaum et al., 2008]. All of the parents faced uncertainty of what the diagnosis would mean for their child, particularly due to lack of experience of the condition or unknown expression of phenotype. In a comparison of prenatally and postnatally diagnosed DS, Skotko [2005] found that mothers who had prenatal screening were more likely to: have increased knowledge about the condition; have less anxiety after the birth; receive positive information from their physician; and reported less negative experiences after the child was born. Due to the scope of this study we were not able to determine whether or not prenatal diagnosis was perceived as valuable compared with finding out postnatally. This is an important area for further investigation.

This qualitative study aimed to explore the experiences of the participating parents and the findings may not be generalized especially as this included various experiences: the couple who had a known genetic condition (skeletal dysplasia); parents who had a previous child with a genetic condition and parents who had no experience of the condition in question. Also the parents in this study all appeared to make a positive adjustment to their decision to continue the pregnancy. This may be explained by the time that had elapsed between the prenatal diagnosis of the child and the interview taking place. Wright [2008] describes a period of “self-transcendence” after diagnosis, where parents were able to more positively reflect on their situation.

It is important to take the retrospective nature of this study into account. However, “flashbulb” memories can occur with memory recall due to a significant event in one's life [Brown and Kulik, 1977] and such memories have been shown to be close to immediate recall of an event [Quine and Rutter, 1994]. It is possible that not all variations of the changed life path have been accounted for in the current study and that people who agreed to participate may represent a particularly well-adjusted sample. Despite the limitations, this does contribute a new dimension to the literature and provide a foundation for a larger study in this area that could inform practice to assist in the support of couples/parents at all stages of their new life path.

This study has several implications for practice. Health professionals need to ensure that adequate information regarding testing and possible outcomes and support is provided to parents. Knowledge and experience of disability should be explored with prospective parents without placing judgements about the outcomes of decisions. As individual and societal attitudes appear to play a significant role in parents' experiences, negative and unsupportive attitudes may constrain a parent's autonomy in making a considered, informed decision and in adapting to their new life path.

Acknowledgements

We thank the participants who willingly gave their time to share their experiences with us. We also thank Margaret Sahhar and staff of Genetic Health Services Victoria. We thank Joan and George Lefroy who provided the initial inspiration to conduct this study and Dr Alison Archibald for her valuable comments on this manuscript. This work was supported by the Victorian Government's Operational Infrastructure Support Program. MBD is a NHMRC Practitioner Fellow.

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