Spanish- and English-speaking pregnant women’s views on cfDNA and other prenatal screening: Practical and ethical reflections

Abstract

The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers’ advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.

Introduction

Since the 2011 introduction of cell free DNA (cfDNA) screening in the United States (US), the technology has spread rapidly through clinical practice, especially at private and academic medical centers (Beamon, Hardisty, Harris, & Vora, 2014; Taylor, Chock, & Hudgins, 2014; Tischler, Hudgins, Blumenfeld, Greely, & Ormond, 2011). Building on the discovery that cell-free placental DNA circulates in maternal serum during pregnancy (Chiu et al., 2008), cfDNA screening is a non-invasive prenatal screening test that uses advanced sequencing and bioinformatics to discern aspects of the fetal genome from placental DNA. Its most common and reliable applications to date have been in detecting the extra chromosomal material associated with Down syndrome (trisomy 21), Patau syndrome (trisomy 13), and Edwards syndrome (trisomy 18), along with the presence or absence of Y chromosomal material in maternal serum that suggests fetal sex (Nicolaides, Syngelaki, Gil, Atanasova, & Markova, 2013; Norton et al., 2015; Porreco et al., 2014). While recommendations regarding cfDNA from relevant professional societies are still in flux, the three major societies associated with prenatal care agree that cfDNA screening is a reasonable option for women with a pregnancy at increased risk of aneuploidy due to prior screening results, maternal age of 35 or more, or family history (American College of Obstetricians and Gynecologists, 2015; Benn et al., 2015; Wilson et al., 2013). The California Prenatal Screening (CPNS) program, the largest and farthest reaching prenatal screening program in the US, began offering cfDNA screening in November 2013 as a second-tier screen (Chetty, Garabedian, & Norton, 2013). Under this single-fee, all-inclusive program, women who receive an elevated-risk result from what is often short-handed as “the California screen” (one or two serum screens, plus optional nuchal translucency ultrasound) are offered genetic counseling and follow-up testing at no extra cost. Women in the CPNS program now may choose cfDNA screening as an intermediary step between serum screening and invasive diagnostic testing, or in place of diagnostic testing (California Department of Public Health Genetic Disease Screening Program, 2013). Women may also request cfDNA screening directly, outside of the CPNS program, although in this circumstance they may be liable for the entire cost—which may range from $795 to $2,762 (Minear, Alessi, Allyse, Michie, & Chandrasekharan, 2015).

Psychosocial research has struggled to keep up with cfDNA screening’s rapid clinical translation. Previous public opinion studies have found support in the United States (US) for the hypothetical availability of cfDNA screening (Allyse, Sayres, Goodspeed, Michie, & Cho, 2015; Allyse, Sayres, Goodspeed, & Cho, 2014), especially among populations with higher education and income levels (Sayres, Allyse, Goodspeed, & Cho, 2014). Farrell et al. have conducted focus groups with small numbers of English-speaking pregnant women and also found general support, tempered with concerns around maintaining patient autonomy and clarity in results and their implications (Farrell, Mercer, Agatisa, Smith, & Philipson, 2014). There is less information available, however, on how US women of diverse ethnicities, particularly Spanish-speaking Latinas, may view these new technologies. Previous research in California has found that Latinas are less likely than women of other ethnicities to consider invasive prenatal testing (Cunningham & Tompkinson, 1999; Kuppermann, Gates, & Washington, 1996), but this reluctance does not necessarily signify a lack of interest in prenatal information. Data from the early years of the CPNS program indicate that Spanish-speaking Latinas were significantly more likely, at that time, to refuse maternal serum screening than non-Hispanic whites, Asians, or African Americans; however, this difference did not hold for English-speaking Latinas (Press & Browner, 1998). More recent data from the San Francisco Bay area, in California, indicate no significant racial/ethnic differences in uptake of prenatal screening and testing among women under 35; among women 35 and over, only non-Hispanic African Americans were significantly more likely than women of other races/ethnicities to refuse all prenatal screening and testing (Kuppermann et al., 2006). Prior to the introduction of cfDNA screening, Latinas and Asian women who received a initial positive results from the “California screen” accepted referrals for genetic counseling at a higher rate than non-Hispanic white women; but after genetic counseling, Latinas chose invasive testing at roughly half the rate of either non-Hispanic whites or Asians (Currier et al., 2012). An early report on the introduction of cfDNA screening in California found that its availability led to higher uptake of follow-up testing in women with elevated risk pregnancies (particularly Latinas), and a reduction in invasive diagnostic testing—but Latinas were still more likely than other groups to refuse all follow-up testing (Chetty et al., 2013). Another recent study in California found that 35% of Latinas with elevated risk pregnancies accepted the offer of cfDNA screening; women who scored higher on a knowledge scale (who were also more often fluent in English) more often accepted cfDNA screening, and most women who refused cfDNA also refused invasive testing (Farrell, Hawkins, Barragan, Hudgins, & Taylor, 2015). A recent national survey showed no significant difference in interest in cfDNA screening among those who identify as Latino/a and those who do not, although the survey was conducted only in English (Sayres et al., 2014). No studies to date have compared the in-depth views of Latina and non-Latina pregnant women on cfDNA screening.

To address the relative lack of knowledge about diverse women’s views of cfDNA screening, we conducted semi-structured interviews with Spanish- and English-speaking women undergoing prenatal care at a large academic medical center. Among our interviewees, Spanish-speaking Latina women assessed many of the benefits and risks of cfDNA screening in similar ways as English-speaking non-Latinas. However, informational needs and ethical concerns regarding prenatal testing differed between Latinas and non-Latinas, as did perceptions of their relationships with their prenatal health care providers. We explore these results below and suggest potential practice implications for prenatal clinical providers.

Methods

Procedures

We interviewed pregnant women living in California between February 28, 2013 and August 25, 2013. During a clinical visit to a perinatal diagnostic clinic at a large academic medical center, women had been asked to participate in a validation study funded by a cfDNA laboratory. Those who accepted had provided a blood sample and agreed to share maternal and newborn medical records; participants did not receive results from the cfDNA study’s serum analysis. After accepting or declining participation in the validation study, women were invited to participate in our telephone interview study about their experiences and opinions regarding prenatal testing. Those who expressed interest received a telephone call to explain the study, invite informed consent, and schedule an interview. Women who agreed to, and completed, a telephone interview were compensated with a $15 gift card from a retail store. This study was reviewed and approved by the Institutional Review Board of Stanford University (Protocol 24784, approved September 24, 2012).

Interviews lasted between 25-45 minutes and were conducted in English or Spanish at the preference of the participant. Interviews included questions about women’s experiences with prenatal screening and diagnostic testing during their current and any prior pregnancies, and about their general opinions regarding cfDNA screening. Interviews were recorded and transcribed; interviews conducted in Spanish were translated into English by a professional medical translation service (original transcripts were retained for reference). All transcripts were redacted to remove identifying information.

Data analysis

Redacted transcripts were uploaded to the Dedoose qualitative analysis software (Dedoose Version 5.0.11, 2014). Researchers developed a codebook using grounded-theory-based methods (Charmaz, 2006; Glaser & Strauss, 1967) and the codebook was revised based on pilot coding. All transcripts were coded in Dedoose and a second coder validated 25% of transcripts spaced at intervals throughout the coding period. All discrepancies were reconciled by consensus (Miles, Huberman, & Saldaña, 2013).

Based on coding, memos recorded throughout the coding process, and discussion, we built a data matrix to assess differences and similarities between English-language and Spanish-language interviews and to refine prominent themes that emerged from the data (Miles et al., 2013). Researchers met weekly during the coding and analysis process to monitor progress, review coding and analysis, and identify and develop emerging themes.

Results

Participant characteristics

Of the 58 women who agreed to be contacted, we were able to contact and successfully complete interviews with 24. Of these, 10 were Latina (Hispanic) and indicated that they preferred to be interviewed in Spanish; most were not fluent in English. The remaining 14 interviews were conducted in English. English-language interviewees were non-Hispanic Asian (n=7) and non-Hispanic White (n=7). Median age of interviewees was 33.5; English-speakers, on average were slightly older than Spanish-speakers (see Table I). A larger number of Latina women reported previous pregnancies and a less-than tertiary education. Four Spanish-speaking and four English-speaking interviewees had declined participation in the cfDNA validation study (see Table II); however, we found no consistent differences between validation study acceptors and decliners. Several women reported declining the validation study due to time constraints or fear of needles, and one woman who declined the validation study later chose to have cfDNA screening clinically. Although cfDNA screening was not yet available through the CPNS program, a few women reported that they had been offered cfDNA screening as part of their clinical care; most had accepted, and one had declined (see Table II). This subgroup was too small to analyze systematically. We found no consistent differences between non-Hispanic Asian and non-Hispanic White interviewees; however, these two groups of English-speaking interviewees, considered together, differed in several respects from Spanish-speaking interviewees. Below, we report several themes in participants’ opinions of cfDNA screening and related issues, grouped broadly into similarities among all interviewees and differences observed between Spanish-speakers and English-speakers.

Table I.

Demographic characteristics of participants

Characteristic	Spanish speakers (n=10)	English speakers (n=14)
Race/Ethnicity
Hispanic/Latina	10 (100%)
Non-Hispanic Asian		7 (50%)
Non-Hispanic White		7 (50%)
Median age	31.5	34.5
Age range	18-43	29-43
Primigravida (first pregnancy)	1 (10%)	7 (50%)
Had previous pregnancy in the US	9 (90%)	7 (50%)
Education a
Less than high school	4 (40%)	0 (0%)
High school diploma	4 (40%)	0 (0%)
2- or 4-year degree	1 (10%)	6 (43%)
Graduate/professional degree	1 (10%)	6 (43%)

^aEducation information was not recorded for 2 English speakers.

Table II.

Experiences and opinions of cfDNA

Experience/Opinion	Spanish speakers (n=10)	English speakers (n=14)
Participated in cfDNA validation study	6 (60%)	10 (71%)
Met with prenatal genetic counselor clinically in previous or current pregnancy (self-report)	4 (40%)	4 (29%)
Offered cfDNA clinically (self- report)	2 (20%)	3 (21%)
Had cfDNA clinically (self-report)	2 (20%)	2 (14%)
Gave a maximum feasible out-of- pocket amount for cfDNA	5 (50%)	5 (36%)
Median of stated feasible out-of- pocket amount for cfDNA (Range)	$200 ($0-$300)	$500 ($200-$2500)

Similarities: Positive aspects of cfDNA screening

The majority of both English- and Spanish-speakers said that the availability of cfDNA screening would have positive effects at both the individual and societal levels. These positive effects included increased preparedness, better accuracy in comparison to previously available California prenatal screening, and decreased risk in comparison to invasive testing.

Increased preparedness

Many women said they would use cfDNA screening to better manage their pregnancy, make termination decisions, and/or prepare for a child with the potential for a genetic condition. One participant noted, “It’s important to be able to have that information and to be able to make informed decisions … ahead of time, like if a woman doesn’t feel that she could take care of a child with special needs or disabilities. … She [might] make the decision ahead of time to place the child for adoption [or] to terminate the pregnancy” (Varsha, 37, NH Asian).¹ Varsha voiced a common theme among interviewees: a belief that prenatal screening, including cfDNA screening, allows couples to collect health information early in their pregnancy to realize their most preferred and informed pregnancy and/or child-raising experience. Jennifer (35, NH White) explained that cfDNA screening would increase her preparedness by allowing her to find and shore up parental supports:

[I]t would help me prepare for the baby … so, [tell] family, friends, and educate them as much as possible. … You have to educate children with Down’s syndrome … I would think [it] would be important to know about what kind of foundations there are, what kind of classes there are, what kind of parent support there is. … I am of the [opinion that the] more information you can get to help your child be healthy, the better. (Jennifer, 35, NH White).

Marisol (37, Latina) decided to have cfDNA screening to prepare for the possibility of a child with a genetic condition, even though her husband did not want her to have the test and questioned its accuracy. She reasoned, “It is better to know … not to have a surprise at the last minute and not know what to do, or why didn’t I read before. Or it is better to understand right now what it is, what is going to happen, what we need to do, where we need to go” (Marisol, 37, Latina). Overall, most Spanish- and English-speakers agreed that cfDNA screening would increase their ability to prepare emotionally, logistically, and socially for a pregnancy that may be affected by a genetic condition.

Greater Accuracy

The majority of interview participants, regardless of ethnicity or primary language, said that cfDNA screening was more accurate than previously available prenatal screening. Marisol, who had opted for cfDNA screening as part of her clinical care after a potential cardiac abnormality was noted during a nuchal translucency (NT) ultrasound, said:

I think that [cfDNA screening] is the most accurate of all the tests they have done … because in the ultrasound they didn’t find anything. … The liquid [serum screening] was ok, and my heart. Even when they sent me to the cardiologist, the cardiologist says things are going well, without any problem. (Marisol, 37, Latina)

Though both her serum screen and her NT returned negative (aside from the potential cardiac abnormality), Marisol’s cfDNA screening returned a positive result for trisomy 21—a result she chose to accept without confirmatory testing, since she intended to continue her pregnancy regardless.

Heather (37, NH White) decided to have cfDNA screening even after her doctor told her that her negative NT and serum screening results gave her “as much assurance as you could almost get.” Nevertheless, Heather’s husband wanted her to have cfDNA screening for additional assurance due to her age and his unknown family history, and because a magazine article had portrayed it as “the way of the future.” She had agreed, reasoning:

It’s just a blood test. If we can get more assurance so we know what, you know, going in what to expect, right, we’ll do it, right? It’s not invasive, there’s no danger to baby, so I’ll do it. (Heather, 37, NH White)

Cynthia (33, NH Asian), who had a negative result from her first trimester serum screen, said, “I know the accuracy of the genetic [cfDNA] test—it’s going to be much higher [than serum screening] so if I have two results and they say different things, maybe I would trust the genetic test results more.” A biochemist, Cynthia noted that “actually I think I know more than my doctor [about cfDNA screening]” and held a high opinion of its accuracy—though, based on her negative “California screen” results, she did not ultimately choose to have the test.

While there were mixed opinions among participants as to whether cfDNA screening or invasive testing was more accurate, most judged invasive testing to be more accurate than cfDNA. Indeed, two participants who particularly valued accuracy said that they would prefer invasive diagnostic testing over cfDNA screening; one of these, Camille (40, NH White), was offered cfDNA screening but chose amniocentesis instead, saying: “I didn’t want to leave my chances up to chance on a new test.” A majority of participants said that they would react the same way to a positive cfDNA screening result as to a positive serum result and that they “would go on to the next invasive test” (Jessica, 32, NH White); only two said that cfDNA results would likely be as definitive as invasive testing, and others said they were not sure based on their limited knowledge. Overall, most participants said that cfDNA screening was more accurate than other prenatal screens but they would still rely on invasive testing to confirm any positive screening result, including one from cfDNA.

Decreased risk

Most participants emphasized that cfDNA screening would allow them to have prenatal genetic testing with decreased risk to their pregnancy. For example, Heather (37, NH White) noted that since cfDNA screening is “just a blood test,” it posed “no danger to baby.” Jessica (32, NH White) mentioned that cfDNA screening would “decrease the risk of preterm labor or anything like that,” while Sofia (31, Latina) went further, stating that cfDNA screening “is something that does not carry any risk and is safe for the mother and baby.” Ana (28, Latina) saw no downside to cfDNA screening, saying that “as long as it is not invasive in any way or form, not for the mother or the baby, I don’t think it has any [negative] consequence.” The majority of both Spanish- and English-speaking interviewees agreed almost verbatim with Heather, Sofia, and Ana, saying that since cfDNA screening requires only a blood draw, it is less risky than invasive diagnostic procedures.

Similarities: Negative aspects of cfDNA screening

While most interviewees held a generally positive opinion of cfDNA screening, both English- and Spanish-speakers mentioned some potentially negative aspects of cfDNA screening, including fears that it might replace ultrasounds, anticipation that a positive cfDNA screening result could negatively impact the pregnancy experience, and a recognition that cfDNA screening is not as accurate as invasive testing.

Replacing Ultrasounds

Several participants mentioned that they would not want cfDNA screening to replace NT or other ultrasounds in the future. Cheryl, for example, said, “I really enjoyed seeing my baby. I think [the ultrasound] changed a lot of things for my pregnancy, seeing the baby move and seeing the anatomy made it a lot more real” (Cheryl, 29, NH White). Gabriela (18, Latina) mentioned a diagnostic benefit, as the “ultrasound shows if there is a problem.” Although cfDNA screening has not displaced ultrasound screening and we did not suggest to interviewees that it would in the future, this concern surfaced during multiple interviews.

Negative Pregnancy Experience

A few participants suggested that receiving a positive cfDNA screening result could change the experience of pregnancy in a negative way. For example, Jennifer (35, NH White) said that if she received a positive result, she would be “worried about” her baby. Marisol said that, while she herself would want cfDNA screening, some friends of hers would not:

They don’t want to know, or like it scares them, more the fear of knowing, if the babies are OK or not. … Sometimes you don’t want to out of fear—one now does not enjoy the pregnancy in the same way. Even though one wants it, now one does not enjoy the pregnancy in the same way. (Marisol, 37, Latina)

Cheryl (29, NH White) noted that cfDNA screening “would be bad because … if it is screening for more genetic diseases, then there’s a higher chance that something’s going to come back negative or positive, which is scary for a pregnant woman.” Accurately observing that screening for more conditions increases the chances of a positive result, Cheryl largely viewed this situation not in terms of the advantages of more information, but in terms of the “scary” experience of pregnancy that such information may engender.

Potential Inaccuracies

A few participants also expressed concerns regarding cfDNA screening’s potential inaccuracies. As mentioned above, Camille (40, NH White) declined cfDNA screening and chose amniocentesis instead. She reasoned, “number one, I know [cfDNA screening]’s new, and number two, [my genetic counselor] said it’s not 100%” (Camille, 40, NH White). Marisol’s husband advised her not to have cfDNA screening—though, as noted above, her doctor had recommended it following an abnormal ultrasound finding—because in a previous pregnancy they had received a false positive screening result. “[My husband said,] ‘leave it alone, and let’s just wait and see.’… They also told him that my [older] son would be born without hands, and they can make mistakes” (Marisol, 37, Latina). Nevertheless, Marisol decided to have cfDNA screening in order to be more informed, and the positive result she received for Down syndrome did not change her plans to carry the pregnancy to term—as “no matter how he comes … the baby will be very much loved.”

Differences

English- and Spanish-speaking interviewees differed in some of the ways they talked about cfDNA screening and other prenatal testing. The most prominent differences were in their approach to the patient-provider relationship, their willingness to pay for cfDNA screening, preferred test counseling style, and the types of ethical and moral concerns raised—including discussions of abortion.

Providers’ roles and patient-clinician relationship

When discussing decision-making about prenatal testing, more Spanish-speakers than English-speakers cited their doctor’s advice as a reason for having a particular test. It was not unusual to hear Spanish-speaking interviewees say, “I just went [to have an ultrasound] because of what the doctor told me in the clinic” (Claudia, 32, Latina). Eva (38, Latina) noted, “if [the providers] offered something, it is so that you would be less concerned, more assured, more prepared.” Most Spanish-speaking interviewees similarly portrayed their doctors positively, as someone whose advice they respected and followed.

English speakers more often offered critiques of their doctors’ advice and of current prenatal screening processes. For example, Sunita (36, NH Asian) was not satisfied with how she was counseled when receiving her prenatal screening results—she wanted to know how her results compared to the rest of the population.

I’d really like to know more about the numbers but the statements were generally vague. … I would like to know … what is the average number and the higher percentiles and where do I stand in the curve. …I actually didn’t receive an answer [from my provider]. (Sunita, 36, NH Asian)

Sunita recalled that her doctor’s discussion of her prenatal screening options added little to the written materials she was given, saying, “I just read it and came to the same conclusion myself.” She also questioned aspects of the current prenatal screening regime, noting that even though more urine and blood tests were conducted during her current pregnancy than in her last, they had not yielded more information. Other English-speakers also offered critiques regarding the availability of desired testing, quality of their test counseling, and providers’ explanations of result interpretation.

English-speaking interviewees also more often reported disregarding the advice of their providers, in comparison to Spanish-speaking participants. Heather and her husband, for example, chose cfDNA screening after receiving a negative result from serum screening, despite the advice of her doctor and genetic counselor:

I met with [the genetic counselor], and all they did was basically explain to me kind of the same thing my doctor did, that all of the testing you’ve done already are, you know, as good as it gets and at this point, this new test they still aren’t ready to rely on, so you’re still only going to get a 1 in x-number, you know, chance…. [The doctor and genetic counselor wondered] ‘Why are you bothering to take this?’ (Heather, 37, NH White)

In the end, however, English-speaking participants usually followed the CPNS protocol, even as they questioned aspects of provider advice. Cynthia (the participant with a PhD in biochemistry who felt more informed about cfDNA than her doctor) is an example. Cynthia said that she only wanted to screen for preventable, treatable conditions for which she was at high risk: “[M]aybe like Asians have high risk of, like, this disease … if there is nothing that they can do about it then maybe it’s unnecessary, but if it’s something that’s preventive then maybe I want to know more about it” (Cynthia, 33, NH Asian). Nevertheless, she had a NT ultrasound, saying it was “not really my choice. I thought this procedure [NT] is kind of like what’s highly recommended by the doctor and then the other procedures [cfDNA screening] are optional” (Cynthia, 33, NH Asian). She rationalized complying with her doctor’s recommendation by noting that, although she believed cfDNA screening was more accurate, her risk for the screened conditions was low, so the difference in accuracy was not a major concern.

Willingness to pay for cfDNA screening

We asked interviewees how much they would be willing to pay out-of-pocket for cfDNA screening. Of those who cited a specific maximum amount, English-speakers on average said they would pay more for cfDNA screening than Spanish-speakers (see Table II). One English-speaking interviewee responded that money would not be an issue when deciding to use cfDNA screening (Cynthia, 33, NH Asian). And while one English speaker and one Spanish speaker each communicated that they would not pay much for cfDNA screening, their rationales were quite different: the English speaker said that insurance companies would pay for cfDNA screening if it were important (Karen, 34, NH White), while the Spanish speaker said it was because her family was “low-income” (Constanza, 27, Latina). Among our interviewees, English-speaking participants generally expressed more ability and/or willingness to pay for cfDNA screening than Spanish-speakers, though the amounts cited by both Spanish and English-speaking interviewees usually fell short of the actual out-of-pocket cost of cfDNA screening (Minear et al., 2015).

Informed decision-making and informational needs

When asked what information should be given to patients about cfDNA screening, English speakers, more often than Spanish speakers, wanted to know broader implications of cfDNA screening and test-related risk to inform their decision-making. Varsha, who was trained as a neurologist, said that women offered cfDNA screening should be educated about the test’s implications:

We have these same ethical problems with testing children for things like Huntington’s, and … what are the ethics and do people really understand the implications of that—I mean, adults struggle with these questions. So they just need to be informed about what could happen if there’s a positive result and kind of what the flow chart looks like from there. (Varsha, 37, NH Asian)

Other English-speakers wanted to know what to do with the test results:

I definitely would want to know exactly what the results were going to be, you know, what you’re testing for and what these things mean to me if they come back positive. … I like to know my options at the end … and who I would be in touch with after that. (Jessica, 32, NH White)

Spanish speakers, in contrast, more often said that providers should give fundamental, descriptive information about cfDNA screening. Rosa, for example, said that test counselors should “explain to [patients], as they explained to me, what that was—the test from which they could know exactly, with ninety-nine percent, if the baby had some abnormality and may also know exactly the sex of the baby; but, above all, that people are going to know what possibilities there are that a baby [will be born] with some illness.” (Rosa, 43, Latina).

However, there were exceptions in each group. Some English-speakers only wanted information directly relevant to available prenatal test options, while a few Spanish-speaking participants went beyond asking for descriptions of cfDNA screening and emphasized the importance of being counseled on what to do with test results. Luz, for example, said that she wanted “especially to know what special care you should provide for them, and everything, and what diseases, so you are aware—what you have to do” (Luz, 34, Latina).

In addition, Spanish-speaking interviewees, more often than English speakers, wanted information regarding prenatal testing options from their providers in written form. Claudia, for example, requested “written information so that you could read it carefully … because when I went, I really didn’t know exactly what tests they were having me do” (Claudia, 32, Latina). English-speaking participants, on the other hand, frequently looked for information in multiple or more varied forms, with two-thirds specifically mentioning the internet, while only one Spanish-speaking participant mentioned looking for information online, and three Spanish speakers mentioned that they did not have home access to the internet and/or did not know how to access fairly common websites: “I have no internet … and I don’t know how to use it” (Eva, 38, Latina).

Ethical and moral concerns

In three interviews with English speakers, ethical concerns arose related to prenatal testing as a form of eugenics—though only one participant used that term, explicitly describing the selective abortion of fetuses with Down syndrome in terms of eugenics:

They have statistics that show as many as 97% of children or fetuses that are detected to have Down’s syndrome prior to birth are aborted, and so … [people born with Down’s syndrome] have, I think, a much smaller community probably to interact with and draw support from. … [E]liminating a group of people who would otherwise be there, I mean it’s a form of eugenics really, and so I think there’s ethical concerns. (Varsha, 37, NH Asian)

No Spanish speakers raised this specific ethical concern. However, two Spanish-speaking participants suggested that it would be more ethical to suspend cfDNA research in favor of redirecting efforts toward treatments for Down syndrome:

Yes, as I say, who are we to take the life of a human being? The human being who is on its way is not at fault for coming ill or come as it may, do you understand?… For me, it would be better to stop [cfDNA research]…If they would find, as I say, a medicine or any solution to avoid all [diseases and their related pregnancy terminations] that it would be perfect, no? Because it would avoid many children who come this way, sick. (Luz, 34, Latina)

Despite this concern, both of these Spanish speakers had participated in the cfDNA validation study. No English speakers raised this possibility of redirecting resources from improving prenatal testing toward curing Down syndrome.

Many Spanish- and English-speakers also related personal views on abortion. Luz, like most other Spanish-speaking interviewees, said that she would have the baby regardless of the results of her prenatal testing:

If they were to tell me, ‘Do you know that your baby has this condition?’ – well, it would make no difference, since I’d have it in any event. (Luz, 34, Latina)

Spanish-speaking participants sometimes described abortions with negative terms such as “harm,” “take the life of a human being,” or “destroy,” while also acknowledging the individual’s right to choose:

It is each one’s decision [to abort] because, in my case, well I wouldn’t, and I would say, ‘Oh well, this is what I get,’ and that’s that. I think the life of a baby, that I would never do him any harm … because I think of a baby’s life, he did not ask to be like this, no. (Eva, 38, Latina)

Those English speakers who mentioned abortion usually discussed it in neutral terms:

At my age and this point in my life, you know, I’ve already talked to my husband—if there’s something seriously wrong then I, you know, we probably wouldn’t continue. (Camille, 40, NH White)

Even though Camille was open to the possibility of abortion, she mentioned that she would not speak to other relatives about termination decisions, “because they might not have the same perception or the same ideas so I really don’t want to get into the ethical or … moral discussions.” However, ten of the fourteen English-speakers either did not mention abortion or alluded to it only obliquely:

[cfDNA screening] would give [some women] a chance to realize that, hey, I’m not in a situation to take care of a special needs child or someone who has problems and maybe they would want to arrange for adoption or prepare themselves for something like that. (Crystal, 31, NH White)

Overall, when English-speakers chose to mention or allude to abortion, they tended to refer to it in more neutral terms; Spanish-speakers generally voiced personal disapproval of abortion, but usually supported individual autonomy in the matter.

Experiences of children with disabilities

A small subset of three interviewees had a uniquely nuanced perspective on prenatal testing, raising children with disabilities, and selective abortion, based on their previous experience with children with disabilities.

Jessica, a nurse in a neonatal intensive care unit, said, “I, obviously in my line of work, see a lot of things that are terrible and I would like to have the knowledge. … I also would probably make the decision to … abort the pregnancy if I had one of those trisomies, especially 13 and 18” (Jessica, 32, NH White). Claudia, whose child had autism, reasoned, “Ruling out the fact that my child may have Down syndrome or any other birth defect, well, it’s OK to know that on time, so that one can make a decision on whether you want to have him or you don’t, right?” (Claudia, 32, Latina). Indeed, Claudia had sought out a genetic counselor to ask whether there was a prenatal test available to screen for autism, in contrast to most other Spanish-speaking participants who simply completed the recommended tests. When asked how she would respond to a positive result from cfDNA screening, however, Claudia responded, “Ah!! Don’t tell me! … No, it would be something very, very difficult because I already have my child [with autism].”

Cheryl (29, NH White), an occupational therapist, wrestled with the relationship between prenatal screening and abortion during her interview.

I work with a lot of children that have genetic diseases, and I wonder if they couldn’t have had better care or, I don’t know, otherwise if they would have known prior to birth that their lives would be so hard after birth. On the flip side, I see a lot of kids that thrive and lead meaningful lives. … A negative aspect to this is that—I don’t know how to word it, but it opens up things to society, like gives us almost too many choices. (Cheryl, 29, NH White)

These three interviewees were unique in our data set for their complex and in-depth musings regarding prenatal testing for disabling conditions. While we cannot generalize based on only three interviews, this small subset offers an interesting perspective that suggests further avenues of investigation.

Discussion

This study, employing in-depth interviews with Spanish- and English-speaking pregnant women in California, offers one of the first explorations of the experiences and opinions of Latina women regarding cfDNA screening. Spanish-speaking Latina women shared many opinions with non-Latina women, emphasizing that cfDNA screening can increase parents’ preparedness, provide improved accuracy in comparison to previously available prenatal screening, and carry less risk than invasive testing. Several Spanish- and English-speaking women also shared the view that positive cfDNA screening results could negatively affect the pregnancy experience, and most women agreed that cfDNA screening is not as accurate as invasive diagnostic testing.

Nevertheless, some notable differences emerged between Latina and non-Latina women, particularly in describing their relationships with their prenatal health care providers, the types and formats of information about cfDNA screening they desired, and the ethical and moral issues they raised with regard to cfDNA screening.

Similarities

Our findings support those of other studies reporting that pregnant women, their partners, and the general public generally value cfDNA screening for its perceived accuracy, low procedural risk, and facilitation of preparation for a future child, while expressing concerns about the potential for inaccurate results and inadequate counseling about test results (Allyse et al., 2015; Farrell et al., 2014; Lewis, Silcock, & Chitty, 2013; van Schendel et al., 2014). Our interviewees, all California residents who were familiar with the CPNS program, generally noted that cfDNA screening offered increased accuracy compared to other prenatal screening options and decreased risks compared to invasive diagnostic testing, facilitating increased preparedness during pregnancy. However, not all interview participants made a precise distinction between current diagnostic and screening tests. Despite a robust state-screening program that offers access to quality test counseling, including genetic counselors, some women continued to confuse prenatal screening tests and invasive diagnostic testing, and interviewees often blurred the two when comparing and contrasting to cfDNA screening. Our findings reflect those of other studies that have found women often have difficulty understanding and distinguishing the many available prenatal testing technologies (Dahl et al., 2011; Dixon & Burton, 2014; Griffiths & Kuppermann, 2008; Marteau & Dormandy, 2001), and emphasize the need for counseling that ensures clarification of these various screening and diagnostic testing methods (Horsting et al., 2014; Knutzen, Stoll, McClellan, Deering, & Foglia, 2013; Kuppermann et al., 2009; Kuppermann et al., 2014; Minear et al., 2015; Nagle et al., 2008).

Additionally, many interviewees, regardless of language, reported that they enjoyed having ultrasounds and would prefer that cfDNA screening not replace any prenatal ultrasounds. While no serious proposals have been made to replace prenatal ultrasounds with cfDNA screening (but see Lichtenbelt et al. (2015)), the fact that several women in our study voiced an unprompted concern that cfDNA screening might supplant ultrasound testing reinforces other studies that have documented the powerful effect of ultrasound imaging and the important position it has assumed in the biomedical, cultural, and psychological experience of pregnancy (Garcia et al., 2002; Molander, Alehagen, & Berterö, 2010; Sandelowski, 1994).

Differences

While there were more parallels between English- and Spanish-speaking groups than disparities, the two groups differed in several respects. Latina women tended to report relying on and trusting the advice of their health care provider regarding prenatal testing, while non-Latinas more often critiqued or questioned such advice. Since most women—regardless of ethnicity—reported that they ultimately followed the testing regimen recommended by their doctors, this apparent difference in attitudes may reflect a cultural orientation regarding the patient-provider relationship that has minimal effect on final decisions about prenatal testing. English- and Spanish-speaking interviewees also differed, on average, in the amount they said they would be willing or able to pay for cfDNA screening. This difference, along with the fact that very few women suggested a maximum out-of-pocket amount comparable to the actual non-discounted cost of cfDNA screening (Daley, 2014; Minear et al., 2015), raises concerns about differential access to screening among populations with unequal socio-economic resources.

Another difference emerged when we asked women what, and how, they or other eligible patients should be told about cfDNA screening. While several English-speaking women asked for a wider range of information beyond a description of the test, including ethical implications of cfDNA screening and further steps in the event of a positive result, Spanish-speakers usually expressed a need for more fundamental information, asking for clear descriptions of what tests are and what they do. And while many English speakers assumed that they could look for information online, Spanish speakers more often requested printed materials, and sometimes mentioned that they did not have access to the internet. This difference likely reflects both the language barriers for Spanish-speakers in the US (see below) and the educational barriers facing most of our Latina interviewees. Despite professional recommendations about patient education and informed consent materials (American College of Obstetricians and Gynecologists, 2012; Benn et al., 2015; Gregg et al., 2013; “Making Health Care Decisions,” 1982; Wilson et al., 2013), most pamphlets produced by cfDNA test companies are written at a high reading level and often do not contain recommended informational elements, particularly those that highlight test limitations (Kloza et al., 2015).

Finally, while both Latinas and non-Latinas brought up ethical and moral concerns regarding cfDNA screening and other forms of prenatal testing, these tended to take somewhat different forms. Latinas often stated their personal opposition to abortion, and for a few, this moral position formed the basis for opposition to devoting resources to newer or better prenatal tests rather than to helping those who have been born with disabilities. Non-Latinas did not discuss abortion as disapprovingly. However, some non-Latina interviewees raised the issue of prenatal testing’s eugenic effect, framing a similar concern in terms of social ethics rather than personal morality. And many of the Latina women who described abortion as morally wrong nonetheless pointed out that women each have to make their own choices, suggesting that their moral stance on abortion was less stark than at first glance it appeared. The ethical concerns these women articulated about cfDNA screening, in different ways, resonate with the disability community’s longstanding critiques of prenatal testing—particularly the arguments that the existence of prenatal testing for disabling conditions implies that abortion is preferable to having a child with a disability, and that prenatal testing erodes our social commitment to caring for people with disabling conditions (Kaposy, 2013; Parens & Asch, 1999, 2000).

We suggest that these apparent differences between Spanish- and English-speaking women in our sample invite further study, while recognizing that these differences across languages are likely confounded by other factors, such as differing education and income levels, variable cultural and socioeconomic backgrounds, and different experiences with pregnancy and child-rearing.

Study Limitations and Research Recommendations

Language barriers in medical contexts are mediated (or potentially exacerbated) by the availability and training of interpreters (Flores, 2005). While we did not record how many Spanish-speaking participants required and received medical interpreters during their prenatal screening and counseling, the literature shows that language barriers influence health care interactions, including the quality of prenatal test counseling (Cheng, Chen, & Cunningham, 2007; Fiscella, Franks, Doescher, & Saver, 2002; Julliard et al., 2008; Penchaszadeh, 2001). The style and affect employed by interpreters may also change the uptake rate for prenatal testing (Preloran, Browner, & Lieber, 2005). Language barriers may partially account for the seemingly uncritical acceptance of the advice of clinicians expressed by many of our Spanish-speaking interviewees, and for a stronger preference among Spanish speakers for printed materials that they could take home and absorb at their own pace (Julliard et al., 2008). We echo calls from other scholars and clinicians for the availability of objective written information for patients considering cfDNA screening (e.g., Stoll & Lindh, 2015); and note that this need—and the need for funding to support such educational efforts—may be particularly urgent for Spanish and other non-English speakers. As our study did not include direct observation of genetic counseling sessions, we did not generally attempt to assess the source, accuracy, or quality of the information about prenatal testing or fetal conditions that study participants reported during interviews. Our results highlight the need for observational research on prenatal test counseling, in particular for non-English speakers.

The members of the Spanish-speaking cohort generally reported less formal education than those of the English-speaking cohort, which likely influenced their perspectives, lifestyles, jobs, and household incomes. No Spanish-speaking participants in our study expressed a willingness to spend more than $300 on cfDNA screening, while a few English-speakers said they would spend a thousand dollars or more, suggesting that our English-speaking interviewees may have had more monetary resources than the Spanish-speakers. Financial resources greatly influence healthcare utilization in the US, where those with lower income, particularly immigrant populations, have fewer choices regarding health care providers and services (Pitkin Derose, Bahney, Lurie, & Escarce, 2009; Ransford, Carrillo, & Rivera, 2010). While these disparities may be reduced with regard to prenatal care in California due to the low-cost, integrated CPNS program, cfDNA screening was not covered by CPNS at the time of these interviews. Our findings resonate with those of Farrell et al. (2015), who found that Latinas with significantly lower understanding of cfDNA screening were more likely to decline cfDNA screening; this lower knowledge may suggest “varying degrees of informed consent” among Latina cfDNA screening decliners who usually elected the routine California prenatal screen. While educational, financial, linguistic, and cultural factors cannot be entirely disentangled in considering Latina pregnant patients, future research may be able to tease some of these factors apart more fully.

In addition, religious differences between the English- and Spanish-speaking interviewees may have impacted their views on the risks and benefits of prenatal testing in general, and cfDNA screening in particular. Although we did not explicitly ask our interviewees for their religious affiliation, abortion is prohibited in the Catholic and Evangelical Protestant faith traditions that are most prominent among Latinas and are less common among non-Hispanic populations (Pew Research Center, 2015). However, prior studies have shown that individual attitudes toward prenatal testing and abortion are quite complex, influenced but not determined by religious affiliation (Markens, Browner, & Preloran, 2010; Moyer et al., 1999; Seth et al., 2011). The relationship between procedural risk, prenatal genetic information, and willingness to consider abortion bears further consideration in the context of cfDNA screening, and research on this relationship should consider the role of religious values.

We noted with interest that most English-speaking interviewees in our sample were pregnant for the first time, while the reverse was true of Spanish-speaking interviewees. This difference no doubt impacted study participants’ attitudes toward their prenatal health care providers and the CPNS program, though we cannot disentangle these factors in this small sample. It may be useful, in future research, to examine the relationship between primigravida status and attitudes toward cfDNA screening.

Finally, we found that the small subset of interviewees who had experiences with disabilities generally expressed more complex deliberations regarding prenatal testing and termination of pregnancies affected by disabling conditions than did other interviewees. While the size of this subset precludes us from drawing conclusions, their responses suggest that experience with disability shapes opinions about caring for disabled children, terminations, and prenatal screening in nuanced and perhaps quite diverse ways; further study in this area is warranted (see Boardman, 2014; Raspberry & Skinner, 2011).

Practice implications

Our findings highlight the challenges in ensuring that patients understand the increasingly complex prenatal testing technologies that are available to them, and they emphasize the importance of customizing prenatal test counseling and shared decision-making to the needs of the individual patient. Educational background should be taken into account in order to adequately counsel patients using terminology they can understand. Likewise, prenatal practices should make additional efforts to mitigate language barriers, preferably by using a certified medical interpreter if the clinician is not fluent in the patient’s preferred language. For individuals whose primary language is not English, providers should strongly consider providing objective written information that patients can read at their own pace, preferably in the patients’ native language, in order to encourage clear understanding of prenatal screening and diagnostic testing options. Finally, our interviews point to the importance of addressing patients’ concerns regarding the ethical and moral implications of cfDNA screening and other prenatal testing, and of emphasizing that prenatal testing is voluntary.

Conclusions

Our investigation is the first to compare the ethical and practical opinions of Spanish- and English-speaking pregnant women about cfDNA screening. Women in this interview study shared many opinions about the benefits and challenges of cfDNA screening, including positive assessments of the technology’s accuracy and its ability to enhance preparedness during pregnancy, and concerns about its potential effects on the experience of pregnancy and its potential for inaccurate results. However, English and Spanish speakers differed in their portrayal of their relationship with prenatal health care providers and the extent to which they questioned providers’ advice, and they tended to raise somewhat different ethical concerns and informational needs.

Some differences between the Spanish and English-speaking cohorts may be due to language barriers, while differing education levels, cultures, socioeconomic factors, religious backgrounds, and previous pregnancy and child-raising experiences may also play a part. Regardless of potential parents’ race and ethnicity, careful attention to prenatal test counseling and education needs can help them make informed decisions about prenatal screening and diagnosis.