Parental experiences of recontacting for extended genetic testing after a terminated pregnancy for congenital malformations

doi:10.21203/rs.3.rs-2006200/v1

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Parental experiences of recontacting for extended genetic testing after a terminated pregnancy for congenital malformations

https://doi.org/10.21203/rs.3.rs-2006200/v1

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published 12 May, 2023

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Rapid advances in genetic testing techniques increase the possibility of finding a genetic diagnosis. In the case of couples who underwent a termination of pregnancy (TOP) due to foetal congenital malformations, these techniques might reveal the cause and meet the parent's need to know. The aim of this qualitative study is to explore the experiences of couples with being recontacted after TOP for congenital malformations, as well as the reasons for participating. A retrospective cohort of 31 couples was recontacted for additional genetic testing by sending a standardized letter followed by a telephone call. Fourteen couples (45%) agreed to participate. Data were collected through semi-structured interviews at the genetics department of the hospital (UZ Brussel). Interviews were audiotaped, transcribed and analysed using thematic analysis. We found that, despite the years that passed since the TOP, participants were still interested to perform novel genetic testing. They appreciated that the initiative for recontacting came from the medical team and described it as a sensitive approach. Both intrinsic (searching for answers for themselves and their children) and extrinsic motivators (contributing to science and helping other parents) were identified as important drivers of participation. These results show that, even after several years, many couples are still interested and motivated to be recontacted for further genetic testing. The results of this study can offer guidance in current debate on recontacting patients in the field of genetics.

recontacting

termination of pregnancy

congenital malformations

Congenital malformations affect approximately 3% of pregnancies worldwide, ranging from a single minor defect to severe multisystem anomalies (1). In current Belgian practice, invasive prenatal diagnosis is offered after identifying congenital anomalies on ultrasound. Prenatal diagnosis provides the possibility of performing elaborated chromosomal analysis by microarray, which can detect numerical and structural unbalanced chromosomal anomalies (2,3). In up to 40% of foetuses with congenital malformations an underlying diagnosis can be identified by microarray. However, the remaining 60% and thus the majority of these cases remain unresolved (4). New next-generation sequencing (NGS) techniques such as whole exome or genome sequencing might offer an extra opportunity for these parents, with an estimated increased diagnostic yield varying between 6.2% and 80% (4).

Termination of pregnancy (TOP) is offered in many countries in case of severe congenital malformations (5), in Europe it concerns on average 4.6 per 1000 pregnancies (6). Policies to regulate TOP in Europe vary among countries, ranging from a complete constraint such as in Andorra to authorisation under certain conditions such as in France and UK (7). In Belgium, late TOP's (> 14 weeks) are allowed after multidisciplinary concertation for serious foetal and maternal conditions. Parents undergoing a TOP decide to terminate a wanted and desired pregnancy (6). For this reason, TOP has psychosocial consequences for parents on different levels (8–10). Innate to a TOP experience is the feeling of ambivalence. Each part of the procedure is characterized by conflicting emotions: hope and despair, a choice but not a choice, bonding and detaching, trauma and peace, disclosure and secrecy, bridging past and future, and individual, familial and societal experience. Consequently, the decision-making process is often a struggle between heart and mind (6). Ambivalence remains not only based on psychosocial reasons, but also because decisions about TOP or continuation of the pregnancy are still often made solely based on the congenital malformations viewed by foetal imaging (11) and not on a molecular genetic diagnosis which could provide a more accurate prognosis.

The clinical implementation of NGS technologies creates new opportunities to find a molecular diagnosis for congenital malformations (11). As more knowledge is obtained, the issue of recontacting for additional diagnostic testing is being raised for couples who could profit from these elaborated tests. Recontacting is defined as 'the establishment of a new contact with former patients, initiated by either former patient or clinician. These patients were seen in the past, discharged from care, and are no longer in an ongoing relationship with the specific healthcare professional involved' (12). In Europe, recontacting practices are not standardized in genetic centres. The most common reasons for recontacting are: the availability of new technologies, new clinical guidance, reclassification of a variant of unknown significance, new results and research/clinical trials (13).

The most common issues reported by healthcare providers are the ethical debate on the potential duty to recontact (13–16), the practical issues such as reliable infrastructure to identify the patients eligible for recontacting, financial resources (17), and a lack of time/feasibility (18). However, studies from a patient perspective are rather scarce. A few studies have been published in patients with different genetic conditions, more specifically in deceased children with a mitochondrial disorder (19), children with intellectual disability (18), hereditary cancer patients (20) and patients with varying genetic disorders (21). In general, these empirical studies describe a mainly positive feeling (17–21), however more in-depth exploration of patients' experiences with recontacting is lacking. On the contrary, personal motivations for pursuing genetic testing have been extensively investigated in other contexts such as patients with Huntington's disease and hereditary cancer syndromes. The main motivators were to relieve uncertainty, clarification for the death of a family member, for reproductive decision-making, to plan their future in general, to inform family members/children, to have access to preventive measures and have adequate medical follow-up (22–24).

The aim of this qualitative study is to explore couples' experiences of being recontacted after having a TOP for congenital malformations. In addition, the reasons for (non-) participating several years after a TOP are explored.

2.1. Participants

This study included participants from a retrospective cohort of 85 parents who underwent TOP for congenital malformations between January 2015 and December 2018. In all of these pregnancies prenatal diagnosis and pathological exam was completed after informed consent. Cytogenetic analyses included Fluorescence in Situ Hybridization (FISH) and microarray. From these 85 patients 54 were not eligible since a diagnosis was already obtained to explain the congenital malformations. Finally, 31 were eligible for this study and thus recontacted (Fig. 1).

2.2. Procedure

Data were collected between August 2019 and November 2020. First, all couples were informed by a standardized letter explaining the opportunity of further genetic testing. An opt-out process was established to simplify the recruitment process. All patients were considered as potential participants and they were asked to contact the Centre of Medical Genetics (CMG) only if not interested. In a next step, the genetic counsellor (IS) phoned the participants not having withdrawn, to give them further explications and propose them an appointment at the CMG of the University Hospital in Brussels (UZ Brussel). The clinical geneticist (KVB) saw the couples on consultation and informed them about the study in detail. After signing the consent explaining the study's purposes and procedures, the couples were seen by the genetic counsellor (IS) at the CMG for an interview. Ultimately, 14 couples presented themselves on the consultation. One couple wanted genetic testing, but they refused an interview. Therefore, 13 interviews with 10 couples and 3 women, were conducted.

2.3. Materials

The interviews were semi-structured, face-to-face and audio-recorded with participant consent. All interviews took between 45 and 120 minutes and were transcribed verbatim and pseudonymized. Transcripts, a coding tree and field notes were used to analyse the data. Afterwards, they were imported in NVIVO 12 and analysed by thematic analysis from Braun and Clarke (25). After familiarizing with the data, an initial list of codes was obtained. This list of different codes was sorted out into potential themes after the iterative process of coding and comparing. The latter themes were reviewed and refined. As no new themes emerged from this coding process, data saturation was obtained. The process of data analysis was independently conducted by a genetic counsellor (IS) and a clinical psychologist (RC) from the CMG, supported by a qualitative expert and midwife (MF). Afterwards both investigators revised the themes together. In a second phase, the results were discussed with a multidisciplinary team including clinical geneticists (KK and FH), laboratory specialist (SVD) and psychologist (RC). Consolidated criteria for reporting qualitative studies (COREQ) [24] were applied during data-collection, analysis and reporting the results.

2.4. Ethical considerations

The eligible candidates for this study were contacted based on the information in their UZ Brussel medical file. When original genetic testing was conducted, all couples had signed an informed consent with the approval for genetic testing and to be recontacted for science projects. The study complied with the Declaration of Helsinki as revised in 2013. The ethical committee of the UZ Brussel approved this study (B.U.N.143201838127). Informed consent was asked prior to the start of the study explaining all details of the research project and the ability to withdraw at any moment. An additional consent was obtained explaining the European General Data Protection Regulation (GDPR) law and how their personal data are processed. Data collection and analyses were performed with care while maintaining total privacy and confidentiality for the couples. All data are stored at a secure server of the CMG within the firewalls of UZ Brussel.

3.1. Participants

The study participants had a TOP between 15 and 33 pregnancy weeks for different types of congenital malformations. In 10 out of the 13 interviews, both men and women attended the interview, in only three interviews the women were alone. The majority had European ancestry, two couples were from Iranian and Turkish origin. The obstetric history was divers, six participants did not have children yet (Table 1). The 6 non-responders and 11 non-participants interrupted their pregnancy between 12 and 34 weeks of pregnancy. 47% of these patients were childless at the moment of TOP (Table 2).

Table 1

Demographics of the participants
	Couple typology	Age at interview		Country of birth	Year of TOP	Gestational age at TOP	GPA* at TOP
		♀	♂
Interview 1	Single	32y	-	Belgium	2016	21 weeks	G2P1A0
Interview 2	Woman of couple	48y	-	Belgium	2015	25 weeks	G5P1A3
Interview 3	Couple	43y	49y	Belgium	2015	24 weeks	G3P0A2
Interview 4	Couple	39y	40y	Iran	2017	32 weeks	G2P1A0
Interview 5	SMC**	37y	-	Belgium	2016	22 weeks	G2P0A1
Interview 6	Couple	40y	43y	Turkey	2016	33 weeks	G6P1A4
Interview 7	Couple	32y	34y	Belgium	2017	22 weeks	G1P0A0
Interview 8	Couple	33y	31y	Belgium	2017	27 weeks	G1P0A0
Interview 9	Couple	39y	45y	Belgium	2016	16 weeks	G3P2A0
Interview 10	Couple	37y	30y	Belgium	2018	23 weeks	G3P2A0
Interview 11	Couple	40y	39y	Belgium	2015	16 weeks	G3P1A1
Interview 12	Couple	43y	50y	Germany	2015	20 weeks	G1P0A0
Interview 13	Couple	29y	35y	Belgium	2018	15 weeks	G3P0A3
No interview	Couple	44y	53y	Mexico	2016	14 weeks	G4P0A3
Gravida (number of times a woman has been pregnant), Para (number of times a woman has given birth), Abortus (number of spontaneous/induced abortions/miscarriages) * Single mother by choice

Table 2

Demographics of non-participants and non-responders
	Gestational age at TOP	GPA* at TOP	Reason to decline
Non-Responder 1	22 weeks	G2P1A0	NA**
Non-Responder 2	23 weeks	G1P0A	NA**
Non-Responder 3	23 weeks	G1P0A0	NA**
Non-Responder 4	23 weeks	G2P1A0	NA**
Non-Responder 5	34 weeks	G1P0A0	NA**
Non-Responder 6	32 weeks	G1P0A0	NA**
Non-Participant 1	22 weeks	G3P1A1	Emotional reasons: 'too sensitive'
Non-Participant 2	33 weeks	G1P0A0	Emotional reasons: 'too painful'
Non-Participant 3	21 weeks	G3P2A0	Language barrier
Non-Participant 4	13 weeks	G1P0A0	No further desire for children
Non-Participant 5	14 weeks	G1P0A0	Not interested, closed chapter, no interest in resurrecting TOP
Non-Participant 6	20 weeks	G3P2A0	Not interested
Non-Participant 7	24 weeks	G2P1A0	Not interested
Non-Participant 8	17 weeks	G4P0A3	No further desire for children
Non-Participant 9	18 weeks	G4P3A0	No further desire for children
Non-Participant 10	12 weeks	G2P1A0	No further desire for children
Non-Participant 11	17 weeks	G3P1A	Divorced
* Gravida (number of times a woman has been pregnant), Para (number of times a woman has given birth), Abortus (number of spontaneous/induced abortions/miscarriages)
** NA = Not applicable

3.2. Experience about initiative of recontacting

The quotes of the interviewees are set out in Table 3.

Table 3

quotes research question 1
Research question 1: How is the experience about being recontacted for further genetic testing for couples who have had a TOP for congenital malformations?
1. Experience about initiative of recontacting
Quote 1:	IV5: I am still thinking about my daughter, but I am not occupied with what is happening in genetics so.. I think that is more a responsibility of the doctors and not the patients. It is already difficult enough to experience it, if people also have think about that…
Quote 2:	IV13: I don't know what is possible and what not and also, I will not per se dare to ask…
Quote 3:	IV11: No. We are not aware about any breakthroughs or not. For what is worth, it could take years, or it could be next month. We do not know at what pace science is evolving. So I think it is more the job of the hospital or the researcher to inform us when he has found something and let us know.
2. Experience about being recontacted
Quote 4:	IV2: Euhm... Yes, I was indeed surprised, a long period has past and then you are reminded of a not so nice period in your life and I thought 'what am I supposed to do with this now?'
Quote 5:	IV2: He did not ask a lot of questions about it, he looked at it for a moment and euh... Yes, he just reacted 'that's up to you'. If it was up to him he might not immediately agreed, he might have thought to call and say it is not necessary anymore. But because I was rather like let's see what comes out of it, what the goal is, then he also immediately agreed. He was not reluctant, but I think it all mattered a bit less in his case. I think I read the letter more attentively and that he went along, but not extremely pro or against. He remained a bit more in the background.
Quote 6:	IV7: Yes, you do not expect it, and everything concerning my son will always be sensitive topic
Quote 7:	IV4: yes I was also immediately enthusiastic. I was like okay good, back then it was closed in the sense we couldn't do anything anymore and now euh yes now there is still a sequel.
Quote 8:	IV5: Rather positive yes, that (the event) still occupies you. That she is not just somewhere in the back of an archive… yes because a lot of people apparently forget that… (cries)
Quote 9:	IV10: While in the letter, it was mentioned clearly that if you did not wish to be contacted, you just had to let them know and that was possible by email which, makes it a low threshold to say that you do not want to participate. But it is important to know that it is possible.
Quote 10:	IV9: I thought it was good that you first send a letter, that you prepare the people and that you know the phone call is coming. If you called directly, that would be a bit too aggressive I think.
3. Experience about returning to the hospital
Quote 11:	IV7: that is not the case for us, it does recall memories, it does recall something but that does not add/weigh up to what it brings or could bring, or what it could mean for other people.

Table 4

quotes research question 2
Research question 2: Which motivators play a role in further genetic testing several years after the TOP?
1. Seeking answers
Quote 12:	IV3: Yes, I have never really resigned myself to it, there must be a cause, so I... There has to be something somewhere that you can put your finger on and say 'look, it was this'. It is also just, the symptoms or what was there., is like where does something like that come from? That fluid in her and so on. It's so hard to explain and somehow I still need an explanation.
Quote 13:	IV7: Euhm… in the first place to potentially get an answer why it went wrong, because yes now, well you learn to live with it but in the moment itself, that was really hard that you get the answer 'purely bad luck'… I think as a parent you always want an answer why it has happened.
Quote 14:	IV11: In the beginning, i felt really guilty, that it was because of me that he died. That maybe I could have avoided or done something so that I would not have lost amniotic fluid. Or something which made me see it. I have been very preoccupied with that, now less. I am a thinker, so yes.
Quote 15:	IV12: To search for answers in every detail. To have done as much as what we possibly can do. Maybe also a part that still lives in me that I have not been able to do enough. Being a mum, for him.
Quote 16:	IV2: have children of my own, if they ever want children themselves and if there would be something, then it would be nice to know.. that it would spare them the grief
2. To help
Quote 17:	IV1: I just said that to my partner, that's coping. People said to me "should you be doing this?", "but yes!" I said, "won't that open old wounds?", I think it won't. This way, I can process it and give it a place that I can also contribute something to the science and I find that positive and I feel good about that. That is actually the main reason why I do it.
Quote 18:	IV4: Taking part in this research is really not for us as a couple... It's more for me in the sense that, first of all, it's general for the future, it's scientific research, that's important. If you would have told me, that's not going to have anything to do with it, there's never going to be a reason for what you went through, then I would certainly have participated. That's not for us. We have been pregnant twice now. If it had been before our daughter's pregnancy, it would have been 80% for us. At that time, we still wanted to get pregnant and have a child. But now it's more like, if other couples can avoid things by just taking a few more blood samples, why not?
Quote 19:	IV10: I was happy that we received the letter now and not last year when I was pregnant, because at that time I really didn't want to know anything about it, but now we are like ok we don't want any more children ourselves, so yes.. if I had had it last year we would have been too preoccupied with it
Quote 20:	IV10: So if the effort would be much higher, we would have more doubts but now, not really. That is the least we can do.
Quote 21:	IV6: Yes, of course it is an 'extra', it is not the intention, but it would be nice to have, but it is mainly for the future, for my children. I just always think, I have had so many problems, what if my daughters later want children and they have problems too? Then we can go back to here, there were this and that test done and what came out of it. Then they might be able to move on more quickly.

In general, the couples were satisfied that the initiative of recontacting was taken by the CMG. The interviewees explained that they would never have taken the initiative themselves for several reasons. Firstly, coping with the TOP was described as a long and difficult process, the idea that couples have to take the initiative to receive more information feels like an extra weight in an, according to them, already difficult situation (Quote 1). Secondly, a proactive attitude was not in their nature, for example because it would not pop up in their mind or because they do not want to bother others (Quote 2). Despite their participation, not all couples describe a burning desire for genetic testing and therefore, they would not have taken the initiative to be informed. As a last and fourth reason, recontacting was considered as a self-evident task of the medical team whose job it is to inform patients about novel genetic testing. The couples were confident that the medical team would inform them and indicated that they were not aware of the evolutions in the field of medical genetics (Quote 3). The idea that the responsibility lies with the medical team created a peace of mind. Therefore, the participants stated that they were not interested in chasing this kind of information, i.e. they would not like to contact the CMG randomly to check if there is new information.

3.3. Experience about being recontacted

The first reactions of the women after receiving the letter was rather one of mixed feelings. For example, some felt shocked because they did not expect to be contacted, especially after this amount of time. It also introduced feelings of impotence and overwhelm, some women did not know what to do with the information raising many questions: why me? Why now? What am I to do with this information? Furthermore feelings of concern were reported, these women thought that there was something wrong with them and potentially with their children (Quote 4). On the contrary, some women were immediately enthusiastic and waiting for a phone call.

The first reaction of the men was different, since the letter was addressed to the women. The men received the information from their partner and some reported to be enthusiastic and without doubts. However from the start, some men left the choice completely to their partner because they had an unspoken opinion or they did not want to participate themselves, but they knew it was important for their partner (Quote 5). Despite these initial feelings, all of the couples were reassured after reading carefully the letter. For some women it took a moment to really understand the letter, not because the information was too difficult but rather due to the unexpected character of the contact and the sensitivity of the topic (Quote 6).

Couples perceived recontacting as a new opportunity because until then they thought an explanation for the congenital malformations was no longer possible. At the last consultation with the clinical geneticist no further genetic testing was available and were given an empirical recurrence risk. Consequently, recontacting opened a new perspective and created a kind of curiosity (Quote 7). For some women being recontacted gave a feeling of recognition to the existence of the child despite the TOP, they appreciated that someone is still thinking about their child. Time has passed, the couples moved on as well as their friends and family and at some point they have the impression that their child is forgotten. By sending the letter, they had the feeling that someone is still caring for them and their child (Quote 8).

In general, the couples were pleased about the way of being recontacted, they described it as a sensitive approach for several reasons. Firstly, because they experienced a freedom of choice. The letter informed the couples about the possibility of genetic testing and if not interested, they could decline. The couples mentioned no pressure and felt the liberty to refrain from further investigations (Quote 9). Secondly, after receiving the letter they were contacted by phone and this two-step approach was a good preparation providing the time and space to consider participation. When ask about this theoretical option, many couples reported not being in favour of an immediate phone call because of the delicacy of the topic and some practical concerns (e.g. being at work when receiving the call) (Quote 10).

3.4. Experience about returning to the hospital

The consultations took place at the hospital where the TOP was performed, so inherently it brought them back to the emotions and memories of the TOP. Despite this fact, the couples felt that participating is worth it. The emotions involved did not outweigh the potential benefits (Quote 11).

3.5. Motivators

This study also explored the motivational drivers justifying the desire of being recontacted and the reasons why these couples are still interested in performing genetic testing. All couples mentioned two main reasons. Firstly, many couples are still searching for answers: why did they have a child with congenital malformations, why did this happen to them? Secondly, they want to help future parents and contribute in scientific progress.

3.5.1. Seeking answers

Although several years have passed since TOP, we observed that the lack of a diagnosis was still playing an important role in the coping process. These couples had the difficult task to deal with the loss of a desired child and up to now they still hadn't received an explanation. While talking about coping with such a loss, some couples mentioned that they are still looking for an answer, for a sense of closure. For some couples it was difficult to explain this 'need', they could not really verbalize why this was so important (Quote 12).

Since no diagnosis was found in the past, the diagnosis of 'bad luck' was often used as an explanation. This answer was not sufficient. The idea of losing a child due to bad luck remains too abstract to find closure (Quote 13). Another reason for seeking answers was the feeling of guilt some women described, they felt responsible because something went wrong in their body. They are afraid that they did something wrong during the pregnancy and for that reason, a genetic diagnosis would relieve them. If the cause would be in their genes, this is not something they could control so they would not have been able to avoid it. This kind of reassurance would provide more closure (Quote 14). Furthermore, they want to have the feeling that they did everything they could possibly do, to stop wondering about what it could have been. Moreover, to be certain that their painful experience was not in vain. In addition, feelings of failure play a role; some women describe the feeling that they did not do enough. Back at the time, they did everything they could possibly do, but now with a new test and a new chance of finding a diagnosis, they do not want to miss this opportunity (Quote 15).

Seeking answers is not only for themselves to close the past, but also for the future of their living children. All participants emphasized that they do not want their children to go through the same situation. By participating in this study, they hope to gain more information for their children. Some parents described a concern; because they have had problems, they feel that the risk for their children is likely to be increased (Quote 16).

3.5.2. To help

Besides these personal reasons, the couples also described external motivations. In first instance, they want to help improve knowledge and scientific research. By contributing to science, they are not only helping themselves in their coping process, but also their children and other future parents. Furthermore, by joining this research project they feel like fulfilling a task for the community. They are contributing to a higher goal by generating extra information, which feels like a privilege (Quote 17). All participants showed a significant interest in helping others, for some couples altruism was their main motivator. They described a bigger need to help others rather than helping themselves (Quote 18).

The couples mentioned also various factors that facilitated the decision to participate. Firstly, the timing played an important role. The fact that a few years have passed since TOP, facilitated their participation. They stated that if they would have been contacted shortly after TOP or in the process of having other children, they probably would not have participated. However, this was not the case for everybody; one women was pregnant at the moment of the consultation and three other couples just had a healthy baby. All couples had in common that they were at a next phase in their coping process; time was needed to heal the wound. Because the chapter of the TOP was (almost) finished they were less dependent on the results of the genetic testing, they estimated that these results would not change their current lives tremendously in first instance (Quote 19). Secondly, the practicalities of the procedure were described as easy. For example, donating a blood sample was perceived as a tiny effort in comparison to the TOP (Quote 20). With whole genome sequencing the chance exists that incidental findings are detected such as a predisposition for breast cancer. All couples had the choice when signing the informed consent to be or not to be informed about actionable incidental findings, this possibility was experienced as a third surplus (Quote 21).

These findings provide a unique exploration of couples' experiences of being recontacted and their interest in performing genetic testing several years (1–5 years) after TOP. The results showed that these parents were looking for a sense of closure to finalize the mourning process. Furthermore, they want to help others to avoid facing the same situation. They described the effort to participate as little, something small for a greater good. For these reasons, all the interviewees reported that their decision to participate was easily taken.

Both men and women participated in this study, in total ten couples and three mothers were interviewed. Significantly, almost half of the eligible participants came back on consultation and chose for further genetic testing not knowing if a molecular genetic diagnosis would be obtained. These participants did not express negative feelings about being recontacted despite the unexpectedness of the contact and the potential past difficulties of coping with a TOP. Previous studies also confirmed mainly positive attitudes towards recontacting (17–21,26). However, the number of qualitative studies exploring in depth the experience of being recontacted is scarce. Sexton et al. (19) interviewed three couples and three mothers who lost a child due to a mitochondrial disorder, in contrast to this study they were only recontacted after a confirmed molecular genetic diagnosis. These parents confirmed also a positive attitude even though this was unexpected and many years after the death of their child. They were pleased that research for mitochondrial disorders was still continuing, hoping it would benefit other affected families (19). Another qualitative study on recontacting concluded that recontacting was considered as desirable and a sign of good quality care after interviewing 41 individuals affected by different genetic conditions (21).

All participants agreed that the initiative of recontacting should be taken by the medical team. This finding corresponds with a quantitative study in which almost 90% of the participants agreed that taking initiative is the responsibility of the clinical geneticist (18). On this basic level, our findings were congruent. However, our in-depth data explored the reasoning behind these statements, whereas the colleagues only surveyed the opinions (18). In current research, the interviewees described thus different reasons why initiative would be completely out of their comfort zone (e.g.: wait-and-see attitude, unawareness of technical medical evolution, burden of reproductive loss). Significantly, the idea that they did not have to take initiative and 'hunt' for new information created a piece of mind. The couples preferred not to be occupied with those things since coping with a TOP was already a significant burden.

Currently, recontacting is not a standardized practice in Europe (13). In 2019 the ESHG wrote recommendations on recontacting patients in clinical genetics services, however no specific guidelines on how to recontact exist (12). In this study, we chose to send first a standardized letter and afterwards an invitation by phone to come to the consultation due to the sensitivity of the past of these couples. This manner of being recontacted was described as a sensitive approach, receiving the letter before a phone call was considered as a smooth preparation. For the majority a direct phone call would have felt inappropriate and overwhelming. This finding provides a clear and important patient perspective on how to recontact couples. However, we have to acknowledge that this sensitive approach might not be feasible in larger patient cohorts.

Though an overall positive feeling concerning recontacting, different ambivalent feelings were described as a first reaction. Some couples were immediately enthusiast whereas others were initially concerned and overwhelmed. However, the women who described those feelings also recognized that after reading the letter a couple of times, they were reassured and understood why they were recontacted. It has been mentioned that a new contact might provoke complex psychological responses linked to a past experience (21). Specifically in couples that terminated a desired pregnancy for medical reasons it might trigger painful memories. Understanding this reproductive trauma, the team hypothesized that couples would possibly avoid coming back to the hospital. Therefore, we explored their experience of coming back to the UZ Brussel. The couples acknowledged that it brought up emotions and memories, but it was worth the effort. Furthermore, they explained that they are now in a different situation. Though not everybody mentioned it, for some couples the timing of recontacting played an important role. This finding was also reported by two mothers of deceased children in another study (19). They would not appreciate being recontacted within a year after their child's death, since new genetic information might have been an additional difficulty in their grieving process. For this reason, caution is needed when recontacting parents, especially because they might be in different stages of their grieving processes.

Almost half of the eligible participants came back to the consultation and chose to do further testing, despite that their trajectory on genetics had finished. This highlights an important finding, namely that these couples were still interested and want to invest in genetic testing. Both men and women described the same motivations. However, three men explicitly mentioned they were not longer looking for a diagnosis. They were present at the consultation to support their partner. A difference is that all women and some men described, as one of the major motivators to perform genetic testing, was to find a diagnosis and thus an explanation for the question: why did this happen to us? The journey of undergoing numerous genetic and non-genetic tests has been termed as a 'diagnostic odyssey' (26) and has mainly been described in children with unidentified rare disorders (27). This odyssey has been described by parents living with a child with an undiagnosed condition as a high burden accompanied with feelings such as distress, frustration and uncertainty (28). The benefits of a molecular genetic diagnosis and thus the end of the diagnostic odyssey are various (27) amongst which psychological advances (28,29). Though this odyssey has been mainly described in children with a neurodevelopmental disorder, the results of this study suggest that the idea of a diagnostic odyssey can be extended to the prenatal context. These couples report still being interested in finding a diagnosis to close the past and to open perspective for the future. Further research is needed to explore this odyssey in a prenatal context and what are the psychosocial effects of ending the genetic diagnostic odyssey. Furthermore, it might be interesting to explore the decision making process towards a TOP between couples with and without a molecular diagnosis.

4.1. Limitations

An important limitation of this study is that we only have partial information concerning the non-participating couples and this does not allow us to draw conclusions on their reasoning for not participating. It can be hypothesized that couples are no longer searching for a diagnosis or do not want to return to UZ Brussel. Specifically in this population, it might also be the case they do not want to re-experience the past. Reasons mentioned by phone were no interest, no longer a desire for children, divorced and emotional reasons. However, the opinion of these couples is important to further shape the debate on recontacting in order to apply it appropriately into the clinical context.

4.2. Future research

The present findings also have implications for future research. More studies in different patient groups are needed to further understand parents' experiences of recontacting in general, but also concerning the approach and the initiative. It is also important to explore parents' reasons to decline participation since their opinions can play a significant role in the debate of recontacting. More broadly, experiences of the diagnostic odyssey in a prenatal context could be further explored. Currently, couples are still terminating pregnancies without having a molecular genetic diagnosis and how this would influence their (future) family planning is largely unknown.

4.3. Conclusion

To our current knowledge, this is the first study which examines in depth the experience of being recontacted in couples who have had TOP for congenital malformations. Feelings concerning recontacting were positive, though it triggered complex psychological responses. Parents were still seeking answers for themselves and to help others. Knowledge about the experience of recontacting and the motivations of couples to proceed to genetic testing several years after a TOP, is an important aspect of the genetic counselling process especially with the rapid evolution of genetic knowledge. This study provides a clear parental perspective on recontacting and may offer guidance in debates on this topic. However, more research is needed to explore the experience of recontacting for other medical indications.

DATA AVAILABILITY

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

ACKNOWLEDGEMENTS

The authors would like to thank the study participants, we appreciate their willingness to share their experiences with us. Furthermore we thank the teams of Medical Genetics and Prenatal Ultrasound of the UZ Brussel. Special thanks to Chris Winter and Florence Belva for their critical revisions during the writing of this manuscript.

AUTHOR CONTRIBUTIONS

All authors contributed to the manuscript, all authors read and approved the final manuscript. IS was responsible for designing and writing the study protocol, data collection, analysing the data, interpreting the results and writing the manuscript. KVB assisted with data collection. RC played an important role in interpreting the data and revising the results. KK, FH and SVD revised the manuscript. MF supervised the methods, data interpretation and revision of the manuscript. SVD, FH, KK and IS designed the Igencare study.

FUNDING

This study is part of the Igencare study financed by INNOVIRIS (Brussels institution for research and development). The funders had no role in the design, analysis or writing of this article.

ETHICAL APPROVAL

The ethical committee of the UZ Brussel approved this study (B.U.N.143201838127).

COMPETING INTERESTS

The authors declare no potential conflict of interest with respect to the research, authorship or publication of this article.

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Parental experiences of recontacting for extended genetic testing after a terminated pregnancy for congenital malformations

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Abstract

Figures

1. Introduction

2. Methods

2.1. Participants

2.2. Procedure

2.3. Materials

2.4. Ethical considerations

3. Results

3.1. Participants

3.2. Experience about initiative of recontacting

3.3. Experience about being recontacted

3.4. Experience about returning to the hospital

3.5. Motivators

3.5.1. Seeking answers

3.5.2. To help

4. Discussion

4.1. Limitations

4.2. Future research

4.3. Conclusion

Declarations

References

Additional Declarations

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