Understanding the experiences and perspectives of prenatal screening among a diverse cohort (2024)

Abstract

Introduction:

Rapid advances in prenatal genetic screening technology make it difficult for providers to deliver adequate prenatal counseling. The aim of this study was to understand how prenatal screening educational approaches can meet the needs of patients.

Methods:

Qualitative content analysis was conducted on a diverse population who were interviewed to explore their perceived experiences and preferences for prenatal screening educational delivery.

Results:

Twenty‐two women from three US sites were interviewed. Participants were racially/ethnically diverse with 22.7% identifying as Black or African American (n = 5), 40.9% as Hispanic (n = 9), and 4.5% as Pacific Islander (n = 1). Four themes were identified: prenatal screening education, prenatal screening decision‐making, return of results, and suggestions for creating a decision aid. Most results were consistent with previous research not targeting a diverse population.

Discussion/Conclusion:

Our results indicate that learning style preferences vary between patients and that current methods are not consistently satisfying patient’s desire for understanding, particularly with ‘high‐risk’ results, suggesting that a standardized tool could improve knowledge and decrease decisional conflict. This diverse cohort suggested a list and description of each of the testing options offered, information about each condition being screened for, a timeline for the testing and return of results, costs associated, and non‐technical language.

1 |. INTRODUCTION

Advancements in prenatal genetic screening and diagnostics have significantly improved the identification of chromosomal abnormalities and heritable conditions during pregnancy. The American College of Obstetricians and Gynecologists recommends prenatal care providers to offer all women prenatal screening in the first trimester of pregnancy, regardless of maternal age, disease history, or risk status.^1,2 Recent changes in the available methods of prenatal screening have changed how the first trimester of pregnancy is experienced by patients and providers.^3,4

As prenatal screening technology expands, new challenges are presented regarding clinicians’ ability to stay informed and adequately educate pregnant individuals about screening options. When interviewed, providers expressed concern about not having enough time or not being informed enough to provide screening information to their patients.^5,6 Consequently, many women are not offered screening, do not understand its purpose or results, are provided with incorrect details, make an uniformed choice or are unaware that screening is optional, and/or are unaware of potential outcomes of their choices regarding prenatal screening.^3,7–9 Research has shown that information about prenatal screening is often offered to patients based on their prenatal care providers’ perceptions, including perceptions about risk, and whether an individual is likely to want or use the screening result for pregnancy termination.^3,8

Individuals from diverse or limited resource settings are less likely to access genetic testing.¹⁰ These factors, along with minoritized patients receiving poorer and less patient‐centered communication from providers, may contribute to disparities in screening uptake during pregnancy.^11–13 The aim of this study was to understand how prenatal genetic screening educational approaches can meet the needs of a diverse cohort of patients.

2 |. METHODS

No standard prenatal genetic screening education for patients exists in the United States. A qualitative study was conducted with a diverse population of individuals to assess how they experience prenatal screening education and to explore shared decision making, values, beliefs, and preferences about prenatal screening education delivery. Institutional review board approval was granted by the University of Utah (single IRB#00101479).

2.1 |. Participant recruitment

Participants were recruited from three clinical sites: the University of Utah OBGyn clinics, University of Alabama Women and Infants Center and Community‐based Obstetric Services, and the University of North Carolina Women’s Clinic. Participants were identified via chart review and in‐person recruitment at the clinic where they received care. Inclusion criteria consisted of the following: participants were at least 18 years of age, had been offered prenatal screening during the previous 12 months, and able to speak and understand English. Eligible participants were sent a research participation invitation via email from the obstetrics clinic where they received care or were approached in person at their obstetrics appointment.

Email invitations provided study details and offered a way to opt out of any further communication. If they did not opt out, individuals were contacted by a member of the research team 2 weeks later to determine their interest, discuss consent information, and schedule a telephone interview. Patients approached in person were provided with consent information and asked for permission to share their contact information. Contact information from non‐Utah sites were shared with the University of Utah Research Director (ER) through a password protected, HIPPA compliant file system. In total, 48 women were invited to participate, of which 22 were interviewed and data saturation was reached. Two trained members of the research team (NR & KL) conducted the telephone interviews between January 6, 2022 and May 9, 2022.

2.2 |. Data analysis

A semi‐structured interview guide was created by the research team (ER, EJ, AS, NV, and EH) (Supplemental Table S1) to explore experiences and perspectives about prenatal screening. Interviews were audio‐recorded and professionally transcribed. Transcripts were uploaded to Dedoose software (v. 9.0.46)¹⁴ for content analysis. Data analysis methodology was based on prior work.^15,16 Codes were inductively generated based on the interview guide by two independent research assistants (NR and KL).¹⁷ The codebook was then systematically applied to all transcripts with new codes added as needed throughout the analysis process. All coded materials were then grouped by thematic similarity and evaluated by an independent coder (ER) for accuracy.

3 |. RESULTS

Twenty‐two women from three sites were interviewed about their prenatal screening experience. Their mean age was 30 years old with an average of 1.8 children (Table 1). Participants were racially/ethnically diverse with 22.7% identifying as Black or African American (n = 5), 40.9% as Hispanic (n = 9), and 4.5% as Pacific Islander (n = 1). Interview times ranged from 20.4 to 51 min with an average time of 33.1 min.

TABLE 1.

Demographics

Variable (n = 22)		Mean (s.d.)
Age (years)		30.0 (6.0)
Number of children		1.8 (1.7)
	n	%
Annual income^a
< $25,000	5	22.7%
$25,000–$50,000	3	13.6%
$50,000–$75,000	0	0.0%
$75,000–$100,000	2	9.1%
>$100,000	2	9.1%
Missing/choose not to answer	10	45.5%
Education^b
High school graduate	2	9.1%
Associates/Some college	4	18.2%
Bachelor’s degree	6	27.3%
Doctoral or professional degree	1	4.5%
Missing/choose not to answer	9	40.9%
Insurance
Private	11	50.0%
Medicaid	10	45.5%
Missing/choose not to answer	1	4.5%
Race
Black	5	22.7%
White	7	31.8%
Pacific Islander	1	4.5%
Other	9	40.9%
Ethnicity
Hispanic	9	40.9%
Non‐Hispanic	13	59.1%

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US 2021 Median household income was $70,784 (US Census).

The percent of the US population, aged 25 or older, with a high school degree is 27.9%, with an Associates in 2021 is 10.5%, with a bachelors is 23.5%, and an master’s degree or higher is 14.4%.

TABLE 2.

Prenatal screening results, education, and type

	(n)
Prenatal screening results
Low risk^a	14
High risk^b	5
N/A	1
Unknown	2
Where participants first learned about screening
Participants are in a medical field	3
From their medical provider	16
Friends	2
Can’t remember	1
Prenatal screening type
NIPT^c	4
QUAD^c	2
N/A	1
Can’t remember/didn’t know	12
Not mentioned	4

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One TAF1 gene variant found after stillbirth genetic screening.

High‐risk result indicates that the pregnancy has an increased risk for trisomy 13, trisomy 18, trisomy 21, or a sex chromosome difference.

One participant received both NIPT and QUAD screenings.

Using the codes created from transcripts, four themes were identified: prenatal screening education, prenatal screening decision‐making, return of results, and suggestions for the creation of a decision aid.

3.1 |. Prenatal screening education

Among our diverse cohort, there were a variety of educational experiences. Participants who were aware of prenatal screening prior to their current pregnancy explained that they learned about it through friends or family members, from a previous pregnancy, or through their own professional involvement. However, most study participants stated that they received at least some education about prenatal screening from their provider at a prenatal appointment, ‘It was offered to me by my OBGYN about, I think, 12 to 13 weeks’ (additional quotes can be seen in Supplemental Table S2).

All study participants were provided with information about prenatal screening, though how it was conveyed varied even within the same institution. Participants mentioned that they had a discussion with an obstetrician, nurse, genetic counselor, or fertility specialist, some of whom were offered additional reading material given at either the appointment or through the patient portal, as was explained by one participant, ‘…the genetic counselor, we did a Face-Time. Then she sent me some stuff’ (Supplemental Table S3). One participant mentioned doing their own research on prenatal screening and asked their provider about it at her next appointment, while another only got reading material at an appointment to review on her own, ‘They just gave me a paperwork with each screening. That screening had the definition so I would have to read it thoroughly and then select if I wanted to take the test or not’.

Of the study participants who were asked if they understood the information given to them, most said they understood. However, several participants who felt they had understood enough to make the original decision indicated that high‐risk results later exposed gaps in their understanding, ‘I think at the surface level of understanding I would get a blood draw and it could come back with some information around the baby’s genetics, I understood. I ended up falling into a category when those tests came back of being high‐risk for some of the less common genetic abnormalities. Looking back at it, those were the things that I think I didn’t quite recognize or understand…’

Several participants mentioned that the information was not easily understood, ‘I feel like the paperwork I came home with was a little bit confusing just because it was technical’. One participant explained, ‘I was left in a position where I was like, I don’t even know what any of this means. Then I turned to Dr. Google, which I do not recommend’. These participants expressed a desire to have someone to thoroughly explain the results. For example, ‘Maybe if someone would’ve went through with me, and really explained it, maybe that would’ve made it a little bit easier to process’.

When asked about the amount of information given, most participants said it was adequate, some did not remember, while others said they did not get enough. One participant explained that she felt overwhelmed from receiving too much information about everything she needed to do for her pregnancy at that same appointment, ‘I just felt like they had so much stuff to get in at that first appointment and I thought that I could just decide later’ (Supplemental Table S4).

3.2 |. Prenatal screening decision making

While some participants stated that they were prepared to make the decision mainly due to their background knowledge, others expressed that they needed more time, expressing that having information about screening prior to the appointment when they would decide would have helped to prepare them to make the decision, ‘I think maybe in the portal. …like receive information prior than just read it right there and having to sign in the moment when you’re there having to get several tests on the same day’.

3.3 |. Return of results

After screening was completed, the results were returned to patients in a variety of ways. For participants who received normal results, receiving results through the patient portal or via phone was well received: ‘I think a phone call is good. I don’t think it’s needed to have an appointment’. However, it was more likely among those who received abnormal results to express dissatisfaction with the return of results and suggested a different method, ‘Phone calls are so hard to catch something. I was visiting family and friends’. Several participants suggested an in‐person discussion instead of getting the results in their patient portal, ‘At this point when it’s negative, like, yeah, just go straight to the doctor. Don’t even bother messaging the patient. ‘Cause we have questions and concerns’. Another patient said, ‘It just was a very, I think, scary experience to just sit and wait on that information until I could get ahold of a medical’.

Some participants with high‐risk results emphasized the importance of both empathy and avoiding judgement when communicating screening results. One participant explained, “If people do get a high possibility test result back, I think that the way people tell you the results matters a lot. …if you have somebody telling you, ‘Oh, my gosh, I’m so sorry your kid has Down Syndrome’. It’s just worse. ‘Cause you feel like it’s something bad…when it’s really not’.

The concept of risk or probability was another concern. Some explained that the notion of the screening results coming back with a probability was unclear, and for another, the multitude of genetic conditions screened for was overwhelming. Representative quotes are as follows:

I had no idea they were probability tests. I thought there was like Yes, or No. When everything happened, they just explained to me …It’s not for sure. …if you wanna know for sure, you need to do the amniocenteses.
Maybe the biggest thing for me, …is probably the other things that the screenings are screening for. …They talked about the Down Syndrome. It was …the various Trisomies and Triploidies that actually ended up being the ones that my test came back with as high‐risk. I don’t remember being talked to about those.

3.4 |. Suggestions for creating a decision aid

Participants gave suggestions on the delivery modes and information to include in the creation of a decision aid for prenatal genetic screening. The most common recommendation for mode of delivery was reading material, such as a brochure or information packet, ‘Having maybe, like a separate brochure or some kind of extra information about what it is I was getting would have been, definitely, I would have been appreciative’. However, the use of visual tools, an interactive tool or website, in‐person with reading material, reading material through the patient portal, and having multiple options available were also suggested (Supplemental Table S7).

Participants suggested topics for a decision aid, which included an explanation of how the testing is done and a list of conditions included in the screen, an explanation of probabilities, individualized risk scores, information about the genetic abnormalities being tested, information about how test results might change pregnancy management, a timeline of the procedure and return of results, cost and insurance coverage, information about which tests are available, pros and cons of choosing the test, other people’s stories, and information about support groups for those who receive a high‐risk result (Supplemental Table S8).

4 |. DISCUSSION

This study describes prenatal screening decision‐making experiences among a racially and ethnically diverse cohort of patients, and their recommendations for creating a decision aid. Twenty‐two women were interviewed about their prenatal screening education, values and beliefs which contributed to their decisions, social support, and return of results. While most of the participants reported that they received some education about prenatal screening from their provider, over a quarter of the participants stated that they obtained that information through alternative means, such as friends, their professional education, or searching the Internet. Even among those who reported receiving information through their provider, there was variability in how the prenatal screening information was presented (e.g., an in‐person discussion or a pamphlet), how much information was given, and how much of a ‘choice’ the decision felt like.

Participants stated that friends and family played a small role in the decision‐making process, possibly because NIPT is viewed as a simple blood test with no risks.¹⁸ Participants mostly desired enough information to make an informed choice on their own, and several participants stated that they would inform their partners later. The exception came from the women who wanted to know of their baby’s gender early. This NIPT feature was generally gleaned from friends.

Across all the interviews, the most frequent stated values and beliefs were the importance of the baby’s health to be prepared if additional care was needed for a special‐needs child, and for some, it was simply to learn about the predicted sex of the pregnancy of their baby earlier. These results were consistent with previous research with less diverse cohorts or ones where they did not include race/ethnicity in their demographics.^19,20 However, in this study, cost was the reason one participant expressed for declining testing, whereas Van Bruggen et al. found that cost was only considered an additional factor to contemplate in the decision‐making process.²⁰

The return of results was generally stated as satisfactory among participants in this study but was more likely to be expressed as done poorly by those who received “high‐risk” results. Participants stated that they wished for a phone call or in‐person appointment versus a patient portal message, expressing a struggle to understand the concept of probability when results came back as ‘high risk’, and experiencing high levels of stress while waiting to talk to a provider. When asked about confirmatory testing, most of our participants who received a ‘high‐risk’ result said that they would choose confirmatory testing (i.e., amniocentesis or chorionic villus sampling), regardless of the small chance of miscarriage. However, several research studies stated that even the smallest risk of miscarriage was not worth taking, which also paralleled previous research,^19,21 indicating that these sentiments have less to do with race/ethnicity than they do with individual values and beliefs.

Maternal‐Fetal medicine providers have an overwhelming amount of information to convey at the first obstetrics appointment and often lack the time and genetics expertise to comfortably dispense up‐to‐date information about prenatal screening.^22,23 Referral to genetic counselors for a more in‐depth discussion is available; however, given that there is one certified genetic counselor for every 71,842 people in the United States,²⁴ there is insufficient availability of these providers to see all pregnant people without risk factors for an in‐depth discussion. One solution is a decision aid. When medical procedures have no clear ‘best’ option, autonomous informed decision‐making is achieved when the patient has adequate knowledge and an understanding of how their beliefs and values may influence their decision.²⁵ Reproductive decisions may impact the parent’s life for decades afterwards, which means whether choosing to terminate the pregnancy or prepare for the extra demands of caring for a special needs child. Multiple studies have assessed prenatal screening decision aids in a variety of modes, such as computer‐based or video education,^26–28 and have been shown to increase knowledge, decrease decisional conflict, and improve informed choice. However, the informational needs may not be transferable to historically disadvantaged populations, many of which are under-represented in the literature (e.g., within prenatal screening), are known to experience less‐shared decision‐making, and receive lower quality medical care.²⁹

Unlike other research, which designed their decision aids based on medical and language experts, this study specifically gathered participant’s recommendations. In terms of the amount of information desired, this varied by the patient, with factors such as education level or whether it was a first pregnancy, influencing the participant’s suggestions. This was unsurprising, since those with lower education or health literacy often lack the background knowledge to understand the complexities of genetics, probability, the limits of screening exams, or the difference between screening versus confirmatory testing.^19,22,30,31 Indeed, while most of the women in this study stated that the information was easy to understand, several participants expressed incumbered understanding due to technical language. Additionally, several modes of transmitting information were suggested, ranging from reading material, like a brochure or pamphlet, to having multiple modes available to fit each patient’s preferred learning style. However, other suggestions for the decision aid were more consistent. For example, a list and description of each testing option, what each screen tested for, a timeline of when testing occurs and results are returned, the costs associated, and non‐technical language.

Lastly, decision aids can be useful but only if there is provider buy‐in. Many of the aforementioned research studies use the dedicated researcher’s time for devoted education and are not realistic at most medical appointments, especially during the information‐packed first prenatal visit.³² A solution is to compensate physicians for providing decision aids to increase use.³³ Among our participants, several of them suggested providing the information prior to the appointment when the decision must be made, for example, via a patient portal message, to give adequate time to deliberate. Lewis et al. made a similar argument,¹⁹ noting that the appointment could then be used to field questions instead of introducing the content for the first time, allowing patients to clarify their decisional needs based on reliable information and their personal values and beliefs, while avoiding the potential routinization of the screen or inadvertently increasing anxiety among those who do not understand that screening is not diagnostic.

5 |. STRENGTHS AND LIMITATIONS

This study interviewed a diverse set of women recruited from three academic medical centers across the United States. However, the study was limited due to the diversity of screening tests used and results received. More than half of the women interviewed could not remember the type of screen they chose, which may impact the findings and implementation in practice. Other limitations are that interviews were done by telephone, and for some, the interviews were conducted with a considerable time passing after the prenatal screening decision, potentially leading to recall bias. Additionally, the patients who agreed to participate may differ from those who did not; therefore, response bias may be present.

6 |. CONCLUSION

Medical providers and hospitals need to be aware that marginalized patients often face additional challenges when it comes to receiving adequate health education, due to discrimination, lower health literacy, or feeling uncomfortable asking people in a position of authority, such as a physician, to clarify, and should take more responsibility in giving diverse populations the information they need. While other studies have tested decision aids, few assessed the qualitative experience of decision‐making for prenatal screening among minoritized patients.

Our results indicate that learning style preferences vary between patients and show that current methods are not consistently satisfying patient’s desire for understanding, particularly when the tests come back with ‘high‐risk’ results. This suggests that a standardized tool could improve knowledge and decrease decisional conflicts. In terms of what information to include in a decision aid, this group of diverse women suggested that a decision aid includes a list and description of each testing option being offered, information about each condition being screened for, a timeline of when testing occurs and results are returned, the costs associated, and the non‐technical language.

Supplementary Material

Supplementary Table 1

NIHMS1889835-supplement-Supplementary_Table_1.docx^{(39.1KB, docx)}

Key points.

What is already known about this topic?

Advances in prenatal genetic screening technology make it difficult for providers to deliver adequate prenatal counseling.
Individuals from diverse or limited resource settings are less likely to access genetic testing.
Additionally, minoritized patients receiving poorer and less patient‐centered communication from providers may contribute to disparities in screening uptake.

What does this study add?

We described the qualitative experience of prenatal genetic screening education and decision‐making among a diverse cohort of patients in the United States.
Recommendations for the creation of a prenatal genetic screening decision aid were gathered directly from a diverse cohort of patients in the United States.

ACKNOWLEDGEMENTS

The authors would like to acknowledge the valuable contributions to this project made by Amber Ivins. Research reported in this publication was supported by the National Human Genome Research Institute of the National Institutes of Health under Award Number R01HG011921. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Funding information

National Human Genome Research Institute, Grant/Award Number: R01HG011921

Footnotes

CONFLICT OF INTEREST

The authors have no conflict of interest to disclose.

SUPPORTING INFORMATION

Additional supporting information can be found online in the Supporting Information section at the end of this article.

DATA AVAILABILITY STATEMENT

Research data are not shared. The data used in this manuscript will not be made publicly available to protect confidential information of participants.

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