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. 2026 Feb 27;35(2):e70187. doi: 10.1002/jgc4.70187

Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective qualitative analysis

Maayke A de Koning 1,2, Sarah Long 2, Holly E Evans 3,4, Lauren Kelada 3,4, Gijs W E Santen 1, Tony Roscioli 2,5,6, Manon Suerink 1,✉
PMCID: PMC12949345  PMID: 41761450

Abstract

Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision‐making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after results were returned to parents. Moreover, parental experiences of pES might be dependent on cultural aspects and country‐specific healthcare systems. This research therefore prospectively explores experiences of families undergoing pES in the Netherlands. Expectant parents undergoing pES because of ultrasound anomalies were invited to participate with two interviews: interview T1 after counseling for genetic testing but prior to return of results and interview T2 six  months after return of results. We translated a previously designed Australian interview script, used in similar research, to Dutch, including four open‐end and two multiple‐choice questions in addition to demographic details. An inductive content analysis approach was used for coding and analysis. Twelve families were interviewed at T1, of which five participants agreed to T2 follow‐up interviews. We constructed six content categories of importance: (1) Prenatal feelings of fear, uncertainty, guilt, and anxiety; (2) conflicting feelings in the face of (un)certainty; (3) overall satisfaction with genetic counseling; (4) decision‐making influenced by desire for information about their child's quality of life; (5) decision‐making influenced by reproductive options and family planning; and (6) importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals. Many content categories show overlap to previous research. However, families in this cohort did not explicitly express negative opinions about waiting on results which is possibly explained by concurrently running multiple genetic testing modalities. Moreover, all participants mentioned positive experiences of the provided healthcare, partly because of swift multidisciplinary collaboration. This study highlights the value of pre‐test counseling by clinical geneticists and shows the need for close collaboration between feto‐maternal specialists, clinical geneticists, and laboratory specialists.

Keywords: genetic counseling, patients' experiences, prenatal exome sequencing

What is known about this topic

Prenatal Exome Sequencing (pES) increases diagnostic yield and has substantial clinical impact in pregnancies with ultrasound anomalies suspected of underlying genetic disorders. Patients undergoing pES value its potential power but are hesitant with regards to the possibility of increased uncertainty and long turnaround times.

What this paper adds to the topic

Our study contributes to the growing body of literature on patient experiences with a unique prospective research design and provides a delineation of these experiences relating to the Dutch national healthcare system. The need for expert genetic counseling and psychosocial support as a routine part of a prenatal genomic testing framework is underlined by this research, with all patients highly valuing the pre‐test session with the clinical geneticist.

1. INTRODUCTION

Of all pregnancies, 2%–3% are affected by fetal structural anomalies (FSA) (EUROCAT, 2020) and an underlying genetic syndrome might significantly impact prognosis. Conventional techniques include rapid aneuploidy testing and chromosomal microarray analysis. For the past years, prenatal exome sequencing (pES) has proven to be a powerful add‐on in diagnosing genetic disorders in pregnancies affected by FSA (Guadagnolo et al., 2021; Lord et al., 2019; Mellis, Oprych, et al., 2022a; Petrovski et al., 2019). Several guidelines and policies (ISPD et al., 2018; Klapwijk et al., 2021; Van den Veyver et al., 2022) have been published regarding the use of pES and while healthcare professionals (Horn & Parker, 2018; Mellis, Tapon, et al., 2022b; Quinlan‐Jones et al., 2016) and patients (Hammond et al., 2021; Harding et al., 2020; Kalynchuk et al., 2015; Plantinga et al., 2022; Talati et al., 2021, 2022) both agree on the great potential of pES, they also acknowledge persisting challenges regarding the implementation of exome sequencing in the prenatal setting (Best et al., 2018).

Current qualitative literature provides valuable insights into challenges of pES as experienced by patients (Kernie et al., 2022; McInnes‐Dean et al., 2024; Mellis, Tapon, et al., 2022b; Outram et al., 2022; Quinlan‐Jones et al., 2017; Wou et al., 2018). Content categories that are often reported in these studies are the desire to know as much information as possible, anxiety while waiting on results, and fear of uncertainty. However, the main limitation of many previous publications is their retrospective nature, with interviews conducted typically several months after results were returned to the participants, which may result in recall bias. In addition, many of these studies took place in a research setting with results of pES being returned after the end of the pregnancy or after parents had decided to continue or terminate the pregnancy based on the FSA. The substantial clinical impact of pES on parental decision‐making has been described previously (de Koning et al., 2019; Deden et al., 2020); thus, it is important to conduct prospective qualitative research on the experiences of parents undergoing pES in routine care for an in‐depth exploration.

While many of the content categories identified in qualitative research seem to overlap across international cohorts, the current application and funding of pES differs between countries. In most countries in Northern and Western Europe, pES is employed in a diagnostic setting and covered by publicly funded healthcare insurance (Becher et al., 2020; Cogan et al., 2025; Kroneman et al., 2016), while in some countries, pES might only be accessible in the context of participation in nation‐ or statewide research or resulting in substantial out‐of‐pocket costs (Sahin‐Hodoglugil et al., 2023). Variation also exists within countries; for example, in Australia, policies vary between states, and therefore, the option to undergo pES and how it is funded depends on the patient's state of residence (Long et al., 2025; Rogers et al., 2024). Furthermore, the legal limit of termination of pregnancy differs between and within countries. In the Netherlands, the legal limit of termination is 24 weeks, after which a pregnancy can only be terminated in exceptional cases with a very severe prognosis. This adds to the pressure of timely return of results because FSA are usually detected around 20 weeks of gestation during the detailed second trimester structural ultrasound scan, and the turnaround time of pES can take up to several weeks. As patient experiences regarding pES might depend on cultural aspects and country‐specific healthcare systems such as the legal limit for termination of pregnancy, it is important to evaluate patient experiences globally. The objective of this research was therefore to explore prospectively the experiences and expectations of patients undergoing genetic testing during pregnancy in a Dutch cohort.

2. METHODS

2.1. Patient recruitment

This interview study was performed in conjunction with the Evaluation of Prenatal Exome Sequencing study (EPESS, clinical trial registry number NL77927.058.21) and was approved by the Medical Ethics Review Board of the Leiden University Medical Center (LUMC). All eligible patients undergoing pES were invited to participate in this study by the clinical geneticist during initial pES counseling from June 2023 until September 2023. Additional information regarding the study was provided by the leading researcher (MdK) by phone. Participants subsequently received an extensive information leaflet including a consent form by post. Verbal consent for data collection and recording of interviews was obtained at the start of the interview. In the LUMC, pES is offered in routine diagnostic care to patients with ultrasound anomalies suspected of an underlying genetic disorder in a diagnostic setting, after aneuploidies are ruled out by either QF‐PCR on DNA from amniocytes or villi, or by Non‐Invasive Prenatal Testing on cell‐free fetal DNA in maternal serum. Pregnancies eligible for pES are subsequently discussed during multidisciplinary team review including maternal‐fetal medicine specialists, clinical geneticists, pediatricians, genomic scientists, and, where applicable, subspecialists such as fetal neurologists or urologists. Copy Number Variant (CNV) analysis is performed simultaneously with pES to reduce overall turnaround time. Details on laboratory procedures have been described previously (de Koning et al., 2019). Patients receive extensive pre‐test counseling by a clinical geneticist on potential outcomes of pES. Shared decision‐making regarding the scope of genetic testing is also part of pre‐test counseling. The probability of a genetic diagnosis versus the risk of variants of uncertain significance and incidental findings with regard to the analysis of small or large gene panels is discussed with patients. Potential participants were required to speak and understand Dutch or English for the interviews. Patients gave written and/or verbal consent when information regarding the research was provided and at the beginning of the interview itself.

2.2. Procedures

All interviews were conducted by a PhD‐candidate (MdK), who is a medical doctor with experience in genetic counseling and prenatal research, and who had no previous interaction with the participants. Participants chose whether they wished to be interviewed alone or with their partner. The first interview (T1) took place after counseling of genetic testing but prior to return of results, and the second interview (T2) took place approximately 6 months after patients had received their genetic testing results. All interviews were conducted via telephone. The T1 interview was expected to take approximately 30 min and the T2 interview 20 min. Interviews were audio‐recorded and transcribed verbatim afterwards by the PhD candidate in Dutch and subsequently translated to English by the PhD candidate. Data regarding ultrasound anomalies and genetic testing results were collected from medical files by the PhD candidate.

The questions for the interview script (Supplementary Material) were derived from the Australian PreGen: Filling the Gap—Antenatal Genomics and Newborn Care Study (HREC/74465/RCHM‐2021) (Long et al., 2025) and the Economic and Social Impacts of Caring for families affected by Intellectual Disability Study (Schofield et al., 2024). This interview script was chosen because of similarities in the study procedure and included cohort. Interview questions were translated to Dutch by the PhD candidate, and some questions regarding healthcare costs were adjusted to match the healthcare system in the Netherlands. Prenatal ES is covered by publicly funded healthcare insurance based on a solidarity principle in the Netherlands (Kroneman et al., 2016), but questions regarding healthcare costs also served the purpose of investigating potential costs and therefore potential barriers related to hospital visits. The interview scripts at the T1 interview and the T2 interview included four open‐end questions exploring (1) mental health and personal experiences, (2) support systems, (3) expectations and hopes for or impact of the genetic testing, and (4) satisfaction with genetic counseling. Although the questions were constructed differently between the T1 and T2 interviews, they covered similar areas. Two multiple‐choice questions (yes/no) were included in the T1 interview about (1) whether patients would consider assisted reproductive technologies and (2) if they took financial reasons into consideration when choosing DNA testing. Additional closed‐end questions collected demographic details.

2.3. Data analysis

The paradigmatic orientation that guided this study was constructivism (Wainstein et al., 2023), since this research aimed to understand individual values and focuses on the belief that truth is context‐dependent. The methodology was focused on understanding individuals' experiences through research conducted in the participants' natural settings. Content analysis with an inductive coding approach (Bradley et al., 2007; Kyngäs et al., 2020; Vears & Gillam, 2022) was used for analyzing interview data. The Consolidated Criteria for Reporting Qualitative Studies (COREQ) guidelines (Tong et al., 2007) were adhered to. The sample size was based on information power (Malterud et al., 2016) and revisited along the research process. While our research aim was broad, the sample specificity was dense and the established theory was abundant, therefore enabling a smaller sample size to still be able to reach information power. Coding was performed by two co‐coders (MdK and SL) independently with input from critical peers (LK and HE) (Coulston et al., 2025). MdK is a medical doctor with experience in genetic counseling who conducted the interviews, and SL is a senior genetic counselor involved in the Australian PreGen project with experience in qualitative research. Transcripts were read multiple times to obtain familiarity with the data. Transcripts were then read line‐by‐line and content codes were constructed. The codes were subsequently combined into subcontent categories. The analysis team met to develop a shared understanding of the dataset and engage in discussion in order to formulate overarching concepts. NVivo software version 12 and Atlas.ti software version v.7.9.0 were used by the two coders. Patient characteristics are provided using descriptive statistics with SPSS version 29. Due to the small number of T2 interviews, data from both timepoints were combined in the analysis.

3. RESULTS

3.1. Patient recruitment and demographics

During the study period, 35 participants were approached to take part in the study (Figure 1). Twenty people declined the interviews. Of the 15 remaining families who consented to take part in the study, three were excluded as they had DNA results available prior to the interview appointment. Twelve T1 interviews were conducted in total and five participants completed the T2 interview. The mean duration of T1 interviews was 49 min (range 38–65 min) and 33 min (range 23–37 min) for T2 interviews. Patient demographics are presented in Table 1. Eleven interviews were conducted with pregnant people and one interview with the male partner without the pregnant person, representing 12 individual pregnancies. Two of these (families 5 and 8) had a mild language barrier, but partners were present to help translate during those two interviews.

FIGURE 1.

FIGURE 1

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Flowchart of participant inclusion.

TABLE 1.

Cohort characteristics (N = 12 families).

Pregnant women Partners
Age (mean, SD) 33.7 ± 3.7 years 36.4 ± 4.3 years
Ethnicity

Dutch: 58% (n = 7)

Dutch Antilles: 17% (n = 2)

Non‐European: 8% (n = 1)

European, other: 17% (n = 2)

Dutch: 75% (n = 9)

Dutch Antilles: 17% (n = 2)

Non‐European: 8% (n = 1)
First language

Dutch: 67% (n = 8)

English: 8% (n = 1)

Other: 25% (n = 3) a

Dutch: 83% (n = 10)

Other: 17% (n = 2) b

Educational attainment level

(Higher) University degree: 50% (n = 6)

Less than university degree: 50% (n = 6)

(Higher) University degree: 33% (n = 4)

Less than university degree: 67% (n = 8)
Turnaround time pES (mean, SD) 15.7 ± 4.3 days
Gestational age at T1 (mean, SD) 20W3D ± 5.2 days
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Abbreviation: SD, standard deviation.

a

Indonesian, Papiamento, Ukrainian.

b

Papiamento, Arab.

There was an equal distribution in isolated and multisystem anomalies, and prognosis of ultrasound anomalies ranged from mild to severe. A genetic diagnosis was made in 5 out of 12 pregnancies, of which two were by pES, two were by CNV analysis, and one by KCNQ1OT1 promotor methylation analysis which was run concurrently with pES based on clinical suspicion in this pregnancy (Table 2). Six families chose to have a pregnancy termination, and one (family 8) of these made this choice prior to receiving the DNA results but after the interview.

TABLE 2.

Details on ultrasound anomalies and genetic testing results.

Participant Parity Gestational age at T1 Prenatal phenotype Genetic diagnosis Pregnancy outcome
1 – father G4P1 14W4D Organomegaly and abdominal wall defect Beckwith–Wiedemann Syndrome Live birth
2 – mother G3P0 21W6D Congenital heart defect and microcephaly Alagille syndrome Termination
3 – mother G3P1 21W3D Unilateral limb anomaly Live birth
4 – mother G1P0 21W4D Ambiguous genitalia Mosaic 45,X/46,XY karyotype Termination
5 – mother and father G2P1 18W4D Unilateral agenesis of the lung Live birth
6 – mother G2P1 21W6D Microcephaly and ultrasound soft marker Live birth
7 – mother G6P4 21W3D Brain anomaly Live birth
8 – mother and father G2P1 17W5D Brain anomaly, congenital diaphragmatic hernia, and fetal neck anomaly Termination
9 – mother G1P0 33W6D Congenital heart defect, abnormality of the gastrointestinal tract, ultrasound soft marker, and intrauterine growth restriction Live birth
10 – mother G1P0 18W1D Cleft lip Blepharocheilodontic syndrome type 2 Termination
11 – mother G3P1 21W5D Congenital heart defect 22q11.2 microdeletion syndrome Termination
12 – mother G3P2 13W1D Abdominal wall defect and increased NT Termination
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3.2. Qualitative interview data

Six different content categories were constructed from the interviews with sufficient information power: (1) prenatal feelings of fear, uncertainty, guilt, and anxiety; (2) conflicting feelings in the face of (un)certainty; (3) overall satisfaction with genetic counseling; (4) decision‐making influenced by desire for information about their child's quality of life; (5) decision‐making influenced by reproductive options and family planning; and (6) importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals. Additional illustrative quotes are provided per content category in Table 3.

TABLE 3.

Illustrative quotations per content category.

Content categories Quotations
Prenatal feelings of fear, uncertainty, guilt, and anxiety

Quote 1: “I had to cry at the hospital and on the way back home, I sat on the street crying. I was very scared.”—Participant 5

Quote 2: “It's a rollercoaster, my emotions are all over the place. One moment everything is awful and very sad, but then again the next moment, […] we think ‘we don't know everything yet, it could go either way’.”—Participant 11

Quote 3: “You get more used to the news with every day that passes and through the knowledge you gain during the different hospital visits. That gave us a bit more peace of mind. Because you just get to know a little bit more about the whole situation.”—Participant 10

Quote 4: “I keep thinking ‘shit, I did something wrong’.”—Participant 12
Conflicting feelings in the face of (un)certainty

Quote 5: “Our world fell apart. I just thought ‘ow my, how do we go on?’. […] I do think eventually, I did feel better knowing something was wrong, to know what caused it.”—Participant 2 (T2)

Quote 6: “The result—nothing was found—was a big relief and allowed me to be more optimistic about the remainder of the pregnancy.”—Participant 5 (T2)

Quote 7: “Because it was a positive result [i.e., no genetic condition was identified], the stress I experienced awaiting the results was for nothing. If I'd never done the genetic testing, maybe I would have been more able to let go of it, to just wait and see when our child was born.”—Participant 9 (T2)

Quote 8: “I want to do more for my child, but I just don't know what to do; those are conflicting feelings. I am a nurse and I am a mother, but I can do nothing, that gives me a feeling of worthlessness.”—Participant 5 (T2)

Quote 9: “I notice that I am still feeling anxious, it is not a certainty anymore that there will be a healthy baby if you are pregnant. Maybe you already knew that, but you didn't feel like it.”—Participant 2 (T2, pregnant again at time of T2)

Quote 10: “And I think the unknown for us, what the function of his hand will be and you know, will there be any limitations later on in life? […] It's just torture with our son, we both have to kind of switch off.”—Participant 3 (T2)
Overall satisfaction with genetic counseling

Quote 11: “I thought it was a real candid conversation. There was an equal balance between listening and talking, so that was really nice. We could ask all of our questions and they were all answered.”—Participant 7

Quote 12: “We've had a really good experience actually. […]the fact that we were able to get some more clarity and some more information about what exactly is done with such a test, that gave us some peace of mind.”—Participant 10

Quote 13: “We never realized before the vastness of DNA testing. So we were really surprised about the scope of the testing.”—Participant 6

Quote 14: “[…] And also really in depth having the different strands of the DNA testing explained. And the pros and cons and ‘what would happen if’ and that was really great for us. […]Because I think in advance, we probably would have chosen the highest form of testing as possible just you know, out of instinct, to kind of get the best outcome.”—Participant 3

Quote 15: “I also appreciated that the clinical geneticist was very clear in his communication and about the way the DNA‐result would be told to us.”—Participant 2 (T2)
Decision‐making influenced by desire for information about their child's quality of life

Quote 16: “So it depends, whether there are underlying conditions that we can't see right now on the ultrasound. That is why we are doing this DNA test, to see whether there are other things that could impair his quality of life.”—Participant 5

Quote 17: “We expect to hear what kind of issues our child will not have, we assume the positive.”—Participant 1

Quote 18: “I am familiar with the world of children with an intellectual disability, maybe more so compared to others. So I think that was something I really took into account when opting for this DNA test.”—Participant 6
Decision‐making influenced by reproductive options and family planning

Quote 19: “My partner and I decided we do not want to raise a child with an intellectual disability. So that means, if that would be the result, that we would choose to end the pregnancy.”—Participant 4

Quote 20: “For the future, it might also be good to know whether there is a predisposition of having a genetic condition, to decide whether we… if we would decide to end the pregnancy […] than it might be useful for our decision whether to have another child in the future.”—Participant 12
Importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals

Quote 21: “I think just to let us know that they're there for us, and that they're thinking about us. To just know we can always go to someone to talk about it. That's the most supportive…which we think is the most supportive for us right now.”—Participant 10

Quote 22: “People come to me with advice or stories and they mean well, but it's useless to me at the moment. So it kind of feels like they don't really listen to what keeps me occupied.”—Participant 4

Quote 23: “When our first child goes to the grandparents, we can wind down.”—Participant 5 (T2)

Quote 24: “My parents do [know about the ultrasound abnormality], but my siblings don't. I don't want to make them upset if it all might turn out all right in the end anyway. […] I'm afraid I'll get questions that I can't answer myself right now.”—Participant 7

Quote 25: “And not only the clinical geneticist, but also the other doctors from the hospital. They were all so nice and polite, very supportive.”—Participant 8 (T2)

Quote 26: “The communication between different departments is spot‐on and really great and everyone knows their role and what's happening.”—Participant 3
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3.2.1. Prenatal feelings of fear, uncertainty, guilt, and anxiety

All participants mentioned the impact that the FSA had on them in the prenatal setting; many were shocked when they received the news and felt sad or scared (Quote 1). They were worried about the uncertainty because they felt like they did not have all the information regarding the prognosis (Quote 2). They were anxious for the future, not only with regards to the genetic testing result but also about follow‐up ultrasounds, with participant 7 saying, “I've got sort of panic attacks because of the uncertainty. You don't know what the future holds, the unknown.” The DNA test was seen as a piece of the puzzle in their search for answers on how to navigate this situation (Quote 3). Some participants (n = 4) also voiced their feelings of guilt and the fear of self‐blame for the FSA (Quote 4).

3.2.2. Conflicting feelings in the face of (un)certainty

Patients described the positive impact of the genetic testing result, regardless of whether a genetic condition was identified (Quotes 5 and 6). However, another participant mentioned that she was unsure whether the knowledge of the negative results was worth the anguish she felt for waiting on these results (Quote 7). Postnatally, participants also talked about the challenges of having to care for a sick child and the feeling of their own powerlessness as parents (Quote 8). Participant 2, who terminated the pregnancy because of the genetic testing result and was pregnant again during interview T2, pointed out the impact of a previously affected pregnancy on subsequent pregnancies by describing feelings of anxiety and uncertainty regarding the health of her baby (Quote 9). Participant 3 discussed their lingering sense of uncertainty related to the postnatal presentation differing from the prenatal ultrasound (Quote 10), as the congenital limb anomaly was re‐assessed as being bilateral postnatally after the prenatal ultrasound finding reported it as being unilateral, stating “The uncertainty about the genetic testing has left us feeling a bit…confused and like everything is unknown again. Whereas the clarity we got from the genetic testing results [during the pregnancy] was that it wasn't a genetic condition and now it feels like we're back in the unknown period.”

3.2.3. Overall satisfaction with genetic counseling

Positive experiences with the department of clinical genetics were mentioned by all participants (Quotes 11–15). The pre‐test counseling session was valued highly, and patients expressed their gratitude for the information provided about the DNA testing, saying that this gave them “peace of mind” (Quote 12). Some patients were surprised about the scope of genetic testing (Quote 13) and elaborated on the difficult balance of wanting to know everything about the health of their child but also being aware of the possible drawbacks of the all‐encompassing range of genetic testing (Quote 14). Although one participant said that she felt taken aback when the clinical geneticist mentioned termination of pregnancy, most participants appreciated the clear communication by the clinical geneticist, not only when talking about the genetic testing itself but also about logistics such as expected turnaround time and the way results would be reported to parents (Quote 15). Patients did not bring up waiting on genetic testing results as an issue by themselves. When prompted by the interviewer, they said that waiting felt like a long and anxious time especially when nearing the 24 weeks of gestation mark, with participant 6 saying “Suppose the baby will be so severely impaired that you have to make a decision about whether to continue the pregnancy, then it is a really short window.” There was, however, an understanding for the reasons behind this relatively long wait time due to the complexity of prenatal genomic testing, with participant 11 saying “Ideally, you would get the result the day after the amniocentesis, but that's just not possible. I realize that.”

3.2.4. Decision‐making influenced by desire for information about their child's quality of life

Many participants talked about their choice for genetic testing to gain more information about quality of life for their child (Quote 16). They wanted to know about other possible associated conditions not identifiable on ultrasound, which could be detected with genetic testing, to obtain as much knowledge as possible, with participant 5 saying “We expect to rule out whether our child will have such a severe impairment that it might have a big impact on us as a family and on the child itself. That is the main reason why we are having this test, because we want to know what the future holds.” Although participants expressed their caution in trying not to hope too much on a positive outcome, many also said that they chose DNA testing in the hope of obtaining reassurance about their child's prognosis (Quote 17). Two participants brought up their lived experience of disability as an important reason for choosing DNA testing (Quote 18), with one participant having a disabled sister and another participant having a brother‐in‐law with Down syndrome. They both thought this provided them with a better understanding of the consequences that a potential genetic diagnosis might have.

3.2.5. Decision‐making influenced by reproductive options and family planning

Participants revealed that an important factor in deciding to proceed with genetic testing was the value of this result for future family planning and reproductive options. Many participants spoke about their decision regarding continuation or termination of the pregnancy and how the pES results might aid them in this difficult decision (Quote 19). Although two participants opted for termination of the pregnancy based on the severity of the ultrasound anomalies, one of whom chose termination prior to receiving the genetic testing results, many others stated during the first interview that they would base this decision mainly on the genetic testing result, with participant 6 explaining, “The genetic test will give more information about everything. The ultrasound abnormality wouldn't be a reason to end the pregnancy right now, but the result of the DNA test might.” Similarly, some patients mentioned the possible consequences that their DNA result might have on whether they chose to become pregnant again (Quote 20).

3.2.6. Importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals

Participants expressed the kinds of support they appreciated from friends, which was mainly someone to talk to who empathized with their current situation (Quote 21). Some patients also mentioned negative comments from friends, including when friends changed the topic of the conversation or when they provided unsolicited advice (Quote 22). Several participants voiced their gratitude for the support provided to them by family members, including practical support with childcare (Quote 23). Although family was often talked about in a supportive way, some participants also touched on the added stress they experienced worrying about the stress they brought upon their family members (Quote 24). In addition, the positive support from other healthcare professionals was brought up by participants many times, with participant 11 saying “They have been really kind and caring and honest to us, so I really appreciate that.” They valued the honesty of feto‐maternal specialists about the uncertain prognosis, and they appreciated the empathy and understanding shown by them (Quote 25). One participant said that she would have liked to have received more information about the procedure of the amniocentesis beforehand, but the quality and type of communication by healthcare professionals were mostly appreciated. The value of efficient collaboration between the obstetrics department and the clinical genetics department was also mentioned (Quote 26).

3.3. Analysis of quantitative interview data

Participants were asked two multiple‐choice questions about (1) whether they took financial costs into consideration when choosing DNA testing (yes/no) and (2) whether they considered assisted technologies such as in‐vitro fertilization (IVF) or preimplantation genetic testing (PGT) (yes/no).

None of the participants said they took financial costs into consideration when choosing to continue with invasive testing and genetic diagnostics. Although some participants were unsure in advance whether these would be covered by their health insurance, they stated that they would not have chosen a different course if they would have to self‐fund testing. Potential costs for extra hospital visits were not related to appointments for the clinical genetics department since counseling was often done via telehealth.

The choice to seek assisted technologies such as IVF and PGT in future pregnancies if the genetic cause of a familial condition was known was equally distributed between participants. One participant refrained from answering because they did not feel adequately informed and could therefore not formulate an opinion. Of the remaining 11 participants, six people would have considered assisted technologies while five people would not. Reasons mentioned for not considering assisted technologies included fulfilled family planning after the current pregnancy (N = 2) or because they favored a natural mode of conception (N = 3).

4. DISCUSSION

The aim of this study was to prospectively explore experiences of families undergoing pES in the Netherlands. Six content categories of importance were identified in this cohort: (1) prenatal feelings of fear, uncertainty, and anxiety; (2) postnatal challenges and continued uncertainty; (3) overall satisfaction with genetic counseling; (4) decision‐making influenced by desire for information about their child's quality of life; (5) decision‐making influenced by reproductive options and family planning; and (6) importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals. Most of these content categories are in line with previous publications (Kernie et al., 2022; McInnes‐Dean et al., 2024; Mellis, Tapon, et al., 2022b; Outram et al., 2022; Quinlan‐Jones et al., 2017; Wou et al., 2018). However, the unique design of this research—with interviews being conducted with patients prior to receiving pES results—enabled the capture of their thoughts and opinions in real time, during the testing process, compared with a retrospective approach which might introduce recall bias. Prior qualitative research has described parents' experiences of prenatal genomic testing as being closely interwoven with the experience of having a fetus with an abnormality (Kernie et al., 2022), which has significant overlap with the prominent content category of feelings of fear, uncertainty, and anxiety as described in this research. Moreover, former qualitative literature has often described the beneficial impact of prenatal genomic testing on patients, whether the result was positive or negative (Outram et al., 2022). Another similarity with preceding research is that prenatal genomic testing was often pursued as a quest for knowledge with parents wanting as much information as possible (Quinlan‐Jones et al., 2017; Wou et al., 2018). The information parents would obtain with pES enabled them to make an informed decision with regards to termination or continuation of the pregnancy and thus increased reproductive autonomy during current and future pregnancies (McInnes‐Dean et al., 2024). Additionally, previous research has raised the need for expert counseling by clinical geneticists to guide parents regarding complex matters during an anxious time, which is underlined by the experiences of patients in this cohort (Mellis, Tapon, et al., 2022b).

A striking difference with previous literature is the negative emphasis on the long wait for results (Horn & Parker, 2018; Mellis, Tapon, et al., 2022b; Quinlan‐Jones et al., 2017), which was not as evident in our research. This might be explained by variations in workflow between countries and research protocols. Even though the turnaround time of pES is currently between 2 and 3 weeks in most countries, patients are often eligible for pES only after negative aneuploidy and CNV analysis (Lord et al., 2019; Petrovski et al., 2019). This can take an additional 2 weeks and might significantly impact the way patients feel about waiting for results (Cogan et al., 2025). The fast comprehensive diagnostic pipeline in the Netherlands meant the first interview was relatively close to the detection of the anomaly, as illustrated by the early gestational age during the first interview (Table 1). This might explain why the prenatal impact of anomaly was often discussed by Dutch participants as being very significant and underscores the need for psychosocial support in this stressful period. Another discrepancy between our research and previous studies is the impact and support of healthcare professionals. While many previous publications report that participants had positive experiences with the care provided to them by clinical geneticists, genetic counselors, and feto‐maternal specialists (Kernie et al., 2022), the need for improved integration between clinical genetics and feto‐maternal units has also been reported (Peter et al., 2024). In the Netherlands, the departments of clinical genetics and maternal‐fetal‐medicine are closely linked and located in the same hospital with frequent multidisciplinary meetings, which enables quick collaboration. This was positively commented on by several families in this research. In the Netherlands, clinical genetics care is centralized in seven large academic medical hospitals located across the country. Equal access of care is ensured for every Dutch citizen because of relatively short traveling distances and a publicly funded healthcare system with compulsory contributions from citizens (Kroneman et al., 2016). The benefits of a publicly funded healthcare system are underlined in this research with none of the participants saying they felt limited in their choice for invasive testing and genetic diagnostics by potential financial costs (Grant et al., 2021). With this research, we explored experiences of patients having pES in the Netherlands specifically. Differences with previously published literature might be attributed to differences in country‐specific healthcare systems as explicated in the aforementioned considerations. However, there are still potential cultural differences that may not have been captured by our interview guide. Future research should therefore focus on identifying personal attributes and beliefs and determining the influence of these on psychological wellbeing and on parental opinions about prenatal genomic testing.

4.1. Strengths and limitations

This research has several strengths and limitations. Firstly, the wide variety of identified anomalies and severity of prognoses of participants reflects the variety as seen in the total clinical population eligible for pES. Since pES is part of routine diagnostic care in the Netherlands, patients were asked to participate in these interviews on a voluntary basis without impeding their eligibility for pES. Therefore, patients would not have to feel pressured into participating with scientific research in order to be offered pES. Although including a substantial number of people where Dutch was a second language provides valuable information about the needs of those families, the use of partners as interpreters in two interviews could have made answers more unreliable. Specific issues of using partners as interpreters are the risk of selective interpretation, influence on responses due to the partner's presence, power dynamics within the relationship, and the possibility that participants may feel less comfortable speaking openly. Another limitation of this study is the possibility of self‐selection bias. Patients who are inclined to partake in scientific research generally have a higher educational attainment level as was seen in our cohort (Table 1). It was not possible to discern between the impact of CNV analysis or pES as these were performed concurrently. However, since the common goal of these tests is to provide more information on the prognosis of the pregnancy with the risk of increasing uncertainty or incidental findings, the technicalities might not be of importance to patients (Kernie et al., 2022). Therefore, this research still provides a comprehensive exploration of participants' experiences in the current prenatal testing landscape.

5. CONCLUSION

This research contributes to the growing body of literature about patient perspectives on current comprehensive prenatal genetic testing. The need for expert genetic counseling and psychosocial support as a routine part of a prenatal genomic testing framework is underlined by this research, with all patients highly valuing the pre‐test session with the clinical geneticist. The care provided to patients in such an emotionally challenging period should therefore be a close collaboration between feto‐maternal specialists, psychosocial workers, clinical geneticists, and laboratory specialists. Although pES still has several drawbacks that need addressing—such as the consequences of uncertain results on the psychological wellbeing of patients—the great potential of prenatal genomic testing is acknowledged by patients internationally.

AUTHOR CONTRIBUTIONS

This project was conceptualized by TR, GWES, and MAK. Data curation was performed by MAK, and formal analysis by MAK together with SL. Initial drafting of the manuscript was done by MAK, under supervision of MS. All authors were involved in drafting, editing, and reviewing the final version of the manuscript. Funding acquisition was done by MAK.

FUNDING INFORMATION

Funding for this study was provided in part by the Simons Foundation Fund, the Vreedefonds, and the Leiden University Fund together with the Slingelands fund.

CONFLICT OF INTEREST STATEMENT

The authors declare no conflicts of interest.

ETHICS STATEMENT

Human studies and informed consent: A waiver of approval was obtained from the Institutional Review Board of the Leiden University Medical Center. Patients gave written and/or verbal consent when information regarding the research was provided and at the beginning of the interview itself.

ARTIFICIAL INTELLIGENCE STATEMENT

No Artificial Intelligence (AI) was used in conceptualization, data curation, data analysis, or writing of this research.

Supporting information

Appendix S1

JGC4-35-0-s001.docx (53.9KB, docx)

ACKNOWLEDGMENTS

The authors would like to thank Gemma Fernihough from Neuroscience Research Australia for her contribution to overall logistics and guidance of the primary author.

DATA AVAILABILITY STATEMENT

All data supporting the results of this study are available within the manuscript and Supplementary Material. Patients did not give consent to publish their entire interview online. However, sections of the data are available from the corresponding author upon reasonable request.

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Associated Data

This section collects any data citations, data availability statements, or supplementary materials included in this article.

Supplementary Materials

Appendix S1

JGC4-35-0-s001.docx (53.9KB, docx)

Data Availability Statement

All data supporting the results of this study are available within the manuscript and Supplementary Material. Patients did not give consent to publish their entire interview online. However, sections of the data are available from the corresponding author upon reasonable request.

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