Autism Spectrum Disorders: A Qualitative Study of Attitudes toward Prenatal Genetic Testing and Termination Decisions of Affected Pregnancies Lei-Shih Chen1*, PhD, CHES; Lei Xu1, MA; Shweta U. Dhar2, MD, MS; Ming Li1, BS; Divya Talwar1, MPH; Eunju Jung3, BA 1
Department of Health and Kinesiology, Texas A&M University, College Station, Texas Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 3 Department of Educational Psychology, Texas A&M University, College Station, Texas 2
CONFLICT OF INTEREST The authors have no conflicts of interest relevant to this article to disclose.
ACKNOWLEDGEMENTS This study was funded through Program to the Enhance Scholarly and Creative Activities at Texas A&M University (PI: Lei-Shih Chen). We wish to thank Lisa Clayton for her assistance with this study.
_________________________________ *To whom correspondence should be addressed. Lei-Shih Chen Mailing address: 4243 TAMU, Department of Health and Kinesiology Texas A&M University Telephone number: (979) 862-2912 Fax number: (979) 847-8987 E-mail address: [email protected] This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/cge.12504 This article is protected by copyright. All rights reserved
ABSTRACT In the United States, prenatal genetic testing (PGT) for Autism Spectrum Disorders (ASD) is currently available via clinical genetic services. Such testing may inform parents about their unborn child’s risk for ASD, prepare parents for the birth of an affected infant, and allow them to arrange for early interventions. Although PGT for autism has potential benefits, the associated ethical, legal, and social implications (ELSI) should be considered. This first qualitative study employed a hypothetical scenario to explore the attitudes toward PGT and termination decisions of 42 parents of children with ASD. Over half of the participants expressed willingness to undergo PGT for autism. Reasons included better preparation for birth, early and better treatment, termination of affected pregnancy, contribution to research, and curiosity. Of the 31 parents who were either willing or unsure about undergoing the PGT, approximately three-fourths would continue their hypothetical affected pregnancies. Explanations included preparation for birth of the child, bonding or acceptance of existing ASD children, apprehensions about test limitations, and religious concerns. Parents who reported they would terminate the affected pregnancy in this hypothetical situation were primarily Asians. This study contributes to the growing understanding of the ELSI aspects of PGT in clinical practice.
KEY WORDS Autism, parents, prenatal genetic testing, reproductive decisions, termination of pregnancy
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INTRODUCTION Autism Spectrum Disorders (ASD), which involve interactions between genetic and environmental factors (1, 2), are rapidly increasing developmental disabilities in the United States (3). The estimated heritability of ASD ranges from 37% - 90% (4). Parents of children with ASD are at an increased recurrence risk of having another affected pregnancy (5, 6). The recurrence risk of ASD is approximately 2-10% if parents have one child diagnosed with ASD (7-13) and about 25-35% if two or more affected children are identified in one family (7, 9, 14). In the United States, prenatal genetic testing (PGT) for autism is a currently available service through genetics professionals commonly found in hospital settings (15, 16). These services (a) inform parents about their fetus(es)’ risk for ASD, (b) help parents prepare for the birth of an affected infant, (c) inform decisions on whether to continue the pregnancy, and (d) allow for early interventions with affected newborns (17). Although PGT for autism has many potential benefits, there are noteworthy limitations. Specifically, the diagnostic yield of PGT for autism is low (18), which may affect parents’ willingness to undergo PGT for autism and their post-test decisions. Additionally, there are ethical, legal, and social factors which merit consideration, such as patients’ informed consent and interpretation of ambiguous test results, and concerns about eugenics and genetic discrimination (17, 19-21). Studies on genetic diseases, such as fragile X syndrome, Down syndrome and cystic fibrosis, suggest that parents with affected children have various attitudes toward PGT and continuation/termination of affected pregnancies (22-28). Many factors are associated with parents’ decision-making, including, but not limited to, religion, disease severity, testing procedures, psychological conditions, family-related factors, gestation period while undergoing the test, and previous experience with the disease (24-27, 29-31) .
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Although PGT for autism is available in the United States, to date (and to the best of our knowledge), prior literature does not discuss perspectives of parents with affected children regarding PGT for autism and further decision-making for termination of affected pregnancies. To understand the ethical, legal, and social issues of PGT for autism, it is crucial to examine parental views regarding this test. We employed qualitative methodology to explore interests in PGT for autism and reproductive decisions among parents of children with ASD, an understudied and sensitive topic (32-35).
MATERIALS AND METHODS Study Design and Sample This study is an element of a project exploring perspectives regarding genetic risk, ASD genetic testing, and education needs among parents of children with ASD. Approval for our study procedures was obtained from the Institutional Review Board at Texas A&M University. An initial semi-structured interview guide was developed based on previous literature (10, 36, 37), and then revised based on feedback from experts in the fields of ASD, special education and genetics/genomics. Study participants were recruited from health conferences and various ASD communities/groups throughout Texas. A snowball sampling technique was employed to recruit participants with diverse SES. Eligible participants were parents with at least one child with ASD. Previous studies have shown that the research topic on PGT and continuation/termination decisions of affected pregnancies is sensitive (32, 33). Given the sensitive nature of the interview questions of this study (e.g., suppose the PGT for autism was offered to you, would you be willing to undergo the test?), we utilized individual interviews to capture in-depth and comprehensive responses. All interviews (one hour average length) were audio recorded and transcribed verbatim. Field notes were taken to
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provide supplementary documents for data interpretation (34, 35). All participants received a $50 incentive. Figure 1 depicts the interview flowchart.
Data Analysis Interviews were transcribed and then coded using Nvivo. Initially, two members of the research team (L.C. and L.X.) used the content analysis approach to independently identify the re-occurring themes and subthemes that emerged inductively from the interview data (38). Although the coding of themes and subthemes between these two investigators was similar overall, the other two investigators (L.S.C. and M.L.) reviewed the transcriptions and checked coded themes and subthemes. The research team met several times to discuss any discrepancies from the coded themes and subthemes until a consensus was reached. In case of disagreements, the research team reviewed and discussed the themes together to reach an agreement.
RESULTS Sample Characteristics Of the 42 participating parents, 76.2% were mothers and had at least one child diagnosed with ASD. About a quarter of these families had more than two children with ASD. Almost half (47.6%) of the participants were from ethnic/racial minorities (i.e., 11 Asian, 6 Hispanic, 3 African-American). Parents’ annual household income varied from < $25K (14.3%), $25K-$35K (9.5%) $35K-$50K (9.5%), $50K-$75K (19%), and > $75K (45%). Educational levels included high school diploma or less (11.9%), some college education (9.5%), and college graduate or higher (78.6%). Participants’ religious affiliations were non-Catholic Christian (71.4%), Catholic Christian (14.3%), Jewish (9.5%) and other religions (4.8%). The majority of our participants (88.1%) did not intend to have more
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children; however, one parent was pregnant at the time of the interview. None of the parents had previously undergone PGT for autism.
Findings Question 1: Suppose the PGT for autism was offered to you, would you be willing to undergo the test? In response to the question “Suppose the PGT for autism was offered to you (for a future, hypothetical pregnancy), would you be willing to undergo the test?”, over half of the participants (n=24, 57.1%) reported that they would undergo PGT for autism. Approximately one-fourth (n=11, 26.2%) were against it, while the rest (n=7, 16.7%) were undecided. Table 1 lists the frequencies of responses and illustrative quotes.
In favor of undergoing PGT for autism About half of the participants (n=13, 54.2%) indicated that better preparation for the birth of a child with ASD was the reason for undergoing PGT for autism. According to one participant: “I would do it just because I think we would be prepared… be ready to work with the child from the beginning.” (Female, White, Income: > $75K)
Similarly, one participant thought ASD was similar to Down syndrome and believed that the PGT test for autism would prepare his family for the birth of an affected child. He expressed: “We [My wife and I] had a conversation…when we went to a screening to see if there was any Down syndrome, and we talked in case there was. I mean we would still have
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the baby no matter what. This would just help us prepare. I think, with autism would be a similar situation.” (Male, Latino, Income: > $75K)
Seven parents (29.1%) intended to undergo the PGT test for early and better management of their child. One participant indicated: “I would definitely want to be tested…If I knew the child I was having was going to have autism, I would want to know that on day one so that the interventions could start immediately.” (Female, White, Income: < $25K)
Five parents (20.8%) agreed they would undergo PGT for autism, asserting the central motivation being utilizing testing results to terminate the affected pregnancies. Among those five parents, four were Asian Americans. As one Asian mother stated: “After our baby was born, we suffered from a lot of painful moments…it is very important to test the mother during pregnancy to avoid giving birth to an autistic child.” (Female, Asian, Income: >$75K)
Four parents (16.7%) mentioned that a desire to support research was the factor affecting their willingness to undergo PGT for autism. According to one interviewee: “If scientific research is trying to identify the cause of autism, I will fully support it [PGT for autism].” (Male, Asian, Income: $25K-$35K)
Lastly, one Latino mother who had two children with ASD explained the reason for undergoing PGT for autism was curiosity to know her recurrence risk of having another affected child.
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Against PGT for autism About one-fourth of the parents (n=11, 26.2%) were against PGT for autism, of which more than half (54.5%) did not perceive any value in undergoing the test. Parents against the test believed that no matter what the test result might be, it would not make any difference in their reproductive decisions. For example, a respondent pointed out that he and his wife would not abort any unborn child based on a test result. Similarly, another interviewee linked the purpose of PGT for autism to abortion. As she would never consider terminating her future/hypothetical pregnancy, she would be not interested in this testing. Four non-Catholic Christian participants (36.4%) attributed their faith/religious belief as the main reason for not undergoing the test. For instance, a participant indicated: “Whatever God has given us for a child is what we will deal with as parents. If this child has Down’s, if this child has Spina Bifida, whatever it is, we’re going to keep this child and love it and deal with it the best way we can.” (Female, White, Income: > $75K)
Two mothers (18.2%) were worried that PGT test might lead to anxiety during pregnancy, and one father questioned the accuracy of the test. None of these parents would choose to undergo the test.
Unsure about PGT for autism Seven parents (16.7%) were undecided whether they would be willing to to undergo PGT for autism. Factors affecting their decisions were condition of the pregnancy (e.g., parent’s psychological status during the pregnancy) (n=3), gestation period (n=2), cost (n=1), test accuracy (n=1), and the procedure (i.e., invasive or non-invasive) (n=1).
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Question 2: What decisions would you make if the test result was positive (in a hypothetical scenario)? For parents who were either willing or unsure about undergoing the PGT test for autism (n=31), we further asked them about their decision, if the test result indicated that their fetus had a chance to have ASD. Three participants (9.6%) felt uncomfortable and refused to respond. Of the remaining parents, 22 participants (71%) said they would continue with their pregnancies while six parents (19.4%) reported that they would prefer to terminate the affected pregnancies, if the PGT results were positive.
Continuing the affected pregnancy Twenty-three parents (74.2%) said they would continue with their hypothetical pregnancies. Preparation for the birth of the child with ASD was the most frequently mentioned reason (43.4%), as one father explained: “I would still have the child, but the benefit would be being able to prepare for the child.” (Male, White, Income: > $75K)
Of those who reported that they would continue with their hypothetical pregnancies (n=23), six parents (26.1%) revealed that it was due to the bond between them and their present ASD-affected children. Hence, if they had another affected pregnancy (a hypothetical situation), they would still continue the pregnancy. One interviewee said: “I
will continue, yes, and I think even at that point if they had some testing that told
me, yes, your child is going to be autistic…I think knowing XXX [deleted the name of the affected child] and knowing how much I love him, I think I would still have the baby.” (Female, Latino, Income: $50K-$75K)
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Four out of the 23 parents (17.4%) who reported that they would continue the affected pregnancy raised concerns about the limitations of the PGT test (e.g., the low diagnostic yield of the test and the failure to detect the severity and types of ASD). For instance, one mother’s response was: “Autism has so many different levels…if you did a genetic test, would it tell me which level I am going to be experiencing? I don’t think so… if my child…is only a little bit slow… it would be such a crime to abort the child.” (Female, Asian, Income: $50K$75K)
Two non-Catholic Christian parents (8.7%) stated that they would continue the pregnancy because of their religious beliefs. One mother affirmed: “No, I wouldn’t [terminate the pregnancy]… I would leave it in God’s hands and if it was meant for it to be…” (Female, White, Income: > $75K)
Terminating the affected pregnancy Six interviewees (19.4%) reported that they would terminate the hypothetical pregnancy if the test results were positive. Five Asian parents (with diverse SES) perceived ASD as a stigma within the Asian community. They explained that having a child with ASD might cause Asian parents to “lose face”. Moreover, these parents asserted ASD was a burden to the affected child, family, and the society. For example, one Asian mother expressed her frustration with the personal and societal burden associated with raising an ASD child. According to her: “If I gave birth to a child with a disability, it might be burdensome to my family and society, and it would also be unfair to the unborn child...” (Female, Asian, Income: $25K-$35K)
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A white participant who had two children diagnosed with ASD remarked: “I do not think abortion is a bad thing…I think I would have aborted that [hypothetical] pregnancy…. he [the affected child] punched me in the face when he was three and knocked out a molar, and he broke all of our furniture… I mean this is not easy life.” (Female, White, Income: > $75K)
DISCUSSION This first qualitative investigation explored attitudes towards PGT and associated reproductive decision-making among parents who had children with ASD. This study has two main strengths. Our sample consisted of parents of children with ASD, a group with a higher recurrence risk of bearing children with ASD compared to other parents in the general population (5, 6). Second, because half of the participants belonged to racial/ethnic minorities, this study could contribute to an understanding of genomics-related health disparities. Our findings highlight several clinical implications. First, although some parents could not decide if they would like to undergo PGT, more than half reported that they would be willing to undergo the test (in a hypothetical scenario). These findings, in conjunction with other studies, demonstrate a general interest in PGT that is driven by a desire to prepare for life with an ASD child and also seek out early interventions. Additionally, many would use PGT results to terminate the pregnancy with an ASD affected fetus (29, 30). Second, about a quarter of our sample reported an unwillingness to undergo the hypothetical PGT for autism. Their unfavorable attitudes were primarily attributed to a lack of perceived value of this test. One possible explanation is that parents associated testing to abortion. Genetic education/counseling prior to the PGT is needed to help parents make informed decisions. Lastly, several parents were undecided about whether they would undergo PGT for autism.
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Their attitudes were related to test characteristics and stages of their pregnancies. If more affordable and accurate PGT for autism were available at an early pregnancy stage, these parents would be more likely to undergo this test. Notably, although PGT for autism raises ethical, legal, and social issues regarding abortion (17), most interviewees preferred to continue their hypothetical affected pregnancies. This finding is contrary to previous studies, which suggest that rare genetic disorders, such as Down syndrome and sex chromosome abnormalities, have a higher termination of pregnancy rate (39, 40). One possible reason might be that our study was conducted in a hypothetical scenario while previous studies were in a real-life situation. Moreover, ASD is a spectrum of disorders with varying severities. Parents might not want to abort a fetus with a mild autistic condition. It is worthwhile to note that a few parents would terminate their hypothetical affected pregnancy if the results of PGT for autism were positive. It is possible that their attitudes towards continuation/termination are influenced by the severity of the ASD condition. Although we did not assess the severity of the ASD among respondents’ children, we observed their children as suffering from more severe forms of ASD. This might impact the quality of life for both parents and their affected children. Consequently, those parents might consider terminating their future affected pregnancies. As the severity of the existing child with ASD might affect parents’ decision-making, future studies are required to explore this issue. Interestingly, Asians in our sample, regardless of their SES levels, supported termination of affected pregnancies. They perceived an ASD child as a burden to their families and society. This finding might be attributed to the participants’ status as a firstgeneration immigrant. Their beliefs might be shaped by the Asian culture where children with disabilities are sometimes stigmatized (41-44). As first-generation immigrants, these parents
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may have faced challenges while living in the United States (45). Having another affected pregnancy might be an additional burden. Previous literature (44) also suggests that some Asian immigrants might consider aborting a fetus who exhibited markers for mental disorders. In addition to culture (stigma), other influences include lack of sufficient financial, family and other supports, and limited access to resources for raising children with special needs. Culturally-tailored interventions and programs may benefit Asian parents raising a child with ASD. This study has several limitations. Parents were given a hypothetical scenario for examining their attitudes toward PGT and pregnancy continuation/termination decisions, and the majority did not plan to have another child. Our findings may differ from the actual situation (46). Another limitation is that the perceived severity of ASD among the affected children was not assessed. Additionally, our participants were recruited from ASD communities/groups. The diagnosis on their children’s ASD was self-reported, and we did not assess the medical records to confirm the diagnoses. Lastly, most of our sample reported high SES. Recruiting parents with low SES is needed for future research to determine if SES impacts their decisions. Despite these limitations, this qualitative study serves as an initial inquiry on which future research can be built (e.g., surveys of large samples of parents with children having ASD regarding their reproductive decisions). Although the majority of parents in our sample expressed interest in undergoing the PGT for autism, some reported concerns about the values, procedures, cost, and validity of the testing. Clinicians should address these concerns. Additionally, we found that there might be a greater intent to terminate affected pregnancies among Asians compared to other racial/ethnic groups. To examine how race/ethnicity might affect parents’ abortion decision-making, survey studies with a large sample size are needed to provide quantitative and more generalizable data.
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Parents who participated in the semi-structured interview (N=42) Q1: Suppose the PGT for autism was offered to you, Would you be willing to undergo the test?
Parents who were unsure about undergoing the test (n=7)
Parents who were willing to undergo the test (n=24)
Parents who were against undergoing the test (n=11)
Q2: What decisions would you make if the test result was positive in a hypothetical scenario?
Continue the pregnancy (n=22)
Discontinue the pregnancy (n=6)
Not reported (n=3)
Figure 1 Interview flow for parents ‘willingness and post-test decisions regarding prenatal genetic testing (PGT) for autism in a hypothetical scenario
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Department of Health and Kinesiology, Texas A&M University, College Station, Texas Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 3 Department of Educational Psychology, Texas A&M University, College Station, Texas 2
CONFLICT OF INTEREST The authors have no conflicts of interest relevant to this article to disclose.
ACKNOWLEDGEMENTS This study was funded through Program to the Enhance Scholarly and Creative Activities at Texas A&M University (PI: Lei-Shih Chen). We wish to thank Lisa Clayton for her assistance with this study.
_________________________________ *To whom correspondence should be addressed. Lei-Shih Chen Mailing address: 4243 TAMU, Department of Health and Kinesiology Texas A&M University Telephone number: (979) 862-2912 Fax number: (979) 847-8987 E-mail address: [email protected] This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/cge.12504 This article is protected by copyright. All rights reserved
ABSTRACT In the United States, prenatal genetic testing (PGT) for Autism Spectrum Disorders (ASD) is currently available via clinical genetic services. Such testing may inform parents about their unborn child’s risk for ASD, prepare parents for the birth of an affected infant, and allow them to arrange for early interventions. Although PGT for autism has potential benefits, the associated ethical, legal, and social implications (ELSI) should be considered. This first qualitative study employed a hypothetical scenario to explore the attitudes toward PGT and termination decisions of 42 parents of children with ASD. Over half of the participants expressed willingness to undergo PGT for autism. Reasons included better preparation for birth, early and better treatment, termination of affected pregnancy, contribution to research, and curiosity. Of the 31 parents who were either willing or unsure about undergoing the PGT, approximately three-fourths would continue their hypothetical affected pregnancies. Explanations included preparation for birth of the child, bonding or acceptance of existing ASD children, apprehensions about test limitations, and religious concerns. Parents who reported they would terminate the affected pregnancy in this hypothetical situation were primarily Asians. This study contributes to the growing understanding of the ELSI aspects of PGT in clinical practice.
KEY WORDS Autism, parents, prenatal genetic testing, reproductive decisions, termination of pregnancy
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INTRODUCTION Autism Spectrum Disorders (ASD), which involve interactions between genetic and environmental factors (1, 2), are rapidly increasing developmental disabilities in the United States (3). The estimated heritability of ASD ranges from 37% - 90% (4). Parents of children with ASD are at an increased recurrence risk of having another affected pregnancy (5, 6). The recurrence risk of ASD is approximately 2-10% if parents have one child diagnosed with ASD (7-13) and about 25-35% if two or more affected children are identified in one family (7, 9, 14). In the United States, prenatal genetic testing (PGT) for autism is a currently available service through genetics professionals commonly found in hospital settings (15, 16). These services (a) inform parents about their fetus(es)’ risk for ASD, (b) help parents prepare for the birth of an affected infant, (c) inform decisions on whether to continue the pregnancy, and (d) allow for early interventions with affected newborns (17). Although PGT for autism has many potential benefits, there are noteworthy limitations. Specifically, the diagnostic yield of PGT for autism is low (18), which may affect parents’ willingness to undergo PGT for autism and their post-test decisions. Additionally, there are ethical, legal, and social factors which merit consideration, such as patients’ informed consent and interpretation of ambiguous test results, and concerns about eugenics and genetic discrimination (17, 19-21). Studies on genetic diseases, such as fragile X syndrome, Down syndrome and cystic fibrosis, suggest that parents with affected children have various attitudes toward PGT and continuation/termination of affected pregnancies (22-28). Many factors are associated with parents’ decision-making, including, but not limited to, religion, disease severity, testing procedures, psychological conditions, family-related factors, gestation period while undergoing the test, and previous experience with the disease (24-27, 29-31) .
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Although PGT for autism is available in the United States, to date (and to the best of our knowledge), prior literature does not discuss perspectives of parents with affected children regarding PGT for autism and further decision-making for termination of affected pregnancies. To understand the ethical, legal, and social issues of PGT for autism, it is crucial to examine parental views regarding this test. We employed qualitative methodology to explore interests in PGT for autism and reproductive decisions among parents of children with ASD, an understudied and sensitive topic (32-35).
MATERIALS AND METHODS Study Design and Sample This study is an element of a project exploring perspectives regarding genetic risk, ASD genetic testing, and education needs among parents of children with ASD. Approval for our study procedures was obtained from the Institutional Review Board at Texas A&M University. An initial semi-structured interview guide was developed based on previous literature (10, 36, 37), and then revised based on feedback from experts in the fields of ASD, special education and genetics/genomics. Study participants were recruited from health conferences and various ASD communities/groups throughout Texas. A snowball sampling technique was employed to recruit participants with diverse SES. Eligible participants were parents with at least one child with ASD. Previous studies have shown that the research topic on PGT and continuation/termination decisions of affected pregnancies is sensitive (32, 33). Given the sensitive nature of the interview questions of this study (e.g., suppose the PGT for autism was offered to you, would you be willing to undergo the test?), we utilized individual interviews to capture in-depth and comprehensive responses. All interviews (one hour average length) were audio recorded and transcribed verbatim. Field notes were taken to
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provide supplementary documents for data interpretation (34, 35). All participants received a $50 incentive. Figure 1 depicts the interview flowchart.
Data Analysis Interviews were transcribed and then coded using Nvivo. Initially, two members of the research team (L.C. and L.X.) used the content analysis approach to independently identify the re-occurring themes and subthemes that emerged inductively from the interview data (38). Although the coding of themes and subthemes between these two investigators was similar overall, the other two investigators (L.S.C. and M.L.) reviewed the transcriptions and checked coded themes and subthemes. The research team met several times to discuss any discrepancies from the coded themes and subthemes until a consensus was reached. In case of disagreements, the research team reviewed and discussed the themes together to reach an agreement.
RESULTS Sample Characteristics Of the 42 participating parents, 76.2% were mothers and had at least one child diagnosed with ASD. About a quarter of these families had more than two children with ASD. Almost half (47.6%) of the participants were from ethnic/racial minorities (i.e., 11 Asian, 6 Hispanic, 3 African-American). Parents’ annual household income varied from < $25K (14.3%), $25K-$35K (9.5%) $35K-$50K (9.5%), $50K-$75K (19%), and > $75K (45%). Educational levels included high school diploma or less (11.9%), some college education (9.5%), and college graduate or higher (78.6%). Participants’ religious affiliations were non-Catholic Christian (71.4%), Catholic Christian (14.3%), Jewish (9.5%) and other religions (4.8%). The majority of our participants (88.1%) did not intend to have more
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children; however, one parent was pregnant at the time of the interview. None of the parents had previously undergone PGT for autism.
Findings Question 1: Suppose the PGT for autism was offered to you, would you be willing to undergo the test? In response to the question “Suppose the PGT for autism was offered to you (for a future, hypothetical pregnancy), would you be willing to undergo the test?”, over half of the participants (n=24, 57.1%) reported that they would undergo PGT for autism. Approximately one-fourth (n=11, 26.2%) were against it, while the rest (n=7, 16.7%) were undecided. Table 1 lists the frequencies of responses and illustrative quotes.
In favor of undergoing PGT for autism About half of the participants (n=13, 54.2%) indicated that better preparation for the birth of a child with ASD was the reason for undergoing PGT for autism. According to one participant: “I would do it just because I think we would be prepared… be ready to work with the child from the beginning.” (Female, White, Income: > $75K)
Similarly, one participant thought ASD was similar to Down syndrome and believed that the PGT test for autism would prepare his family for the birth of an affected child. He expressed: “We [My wife and I] had a conversation…when we went to a screening to see if there was any Down syndrome, and we talked in case there was. I mean we would still have
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the baby no matter what. This would just help us prepare. I think, with autism would be a similar situation.” (Male, Latino, Income: > $75K)
Seven parents (29.1%) intended to undergo the PGT test for early and better management of their child. One participant indicated: “I would definitely want to be tested…If I knew the child I was having was going to have autism, I would want to know that on day one so that the interventions could start immediately.” (Female, White, Income: < $25K)
Five parents (20.8%) agreed they would undergo PGT for autism, asserting the central motivation being utilizing testing results to terminate the affected pregnancies. Among those five parents, four were Asian Americans. As one Asian mother stated: “After our baby was born, we suffered from a lot of painful moments…it is very important to test the mother during pregnancy to avoid giving birth to an autistic child.” (Female, Asian, Income: >$75K)
Four parents (16.7%) mentioned that a desire to support research was the factor affecting their willingness to undergo PGT for autism. According to one interviewee: “If scientific research is trying to identify the cause of autism, I will fully support it [PGT for autism].” (Male, Asian, Income: $25K-$35K)
Lastly, one Latino mother who had two children with ASD explained the reason for undergoing PGT for autism was curiosity to know her recurrence risk of having another affected child.
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Against PGT for autism About one-fourth of the parents (n=11, 26.2%) were against PGT for autism, of which more than half (54.5%) did not perceive any value in undergoing the test. Parents against the test believed that no matter what the test result might be, it would not make any difference in their reproductive decisions. For example, a respondent pointed out that he and his wife would not abort any unborn child based on a test result. Similarly, another interviewee linked the purpose of PGT for autism to abortion. As she would never consider terminating her future/hypothetical pregnancy, she would be not interested in this testing. Four non-Catholic Christian participants (36.4%) attributed their faith/religious belief as the main reason for not undergoing the test. For instance, a participant indicated: “Whatever God has given us for a child is what we will deal with as parents. If this child has Down’s, if this child has Spina Bifida, whatever it is, we’re going to keep this child and love it and deal with it the best way we can.” (Female, White, Income: > $75K)
Two mothers (18.2%) were worried that PGT test might lead to anxiety during pregnancy, and one father questioned the accuracy of the test. None of these parents would choose to undergo the test.
Unsure about PGT for autism Seven parents (16.7%) were undecided whether they would be willing to to undergo PGT for autism. Factors affecting their decisions were condition of the pregnancy (e.g., parent’s psychological status during the pregnancy) (n=3), gestation period (n=2), cost (n=1), test accuracy (n=1), and the procedure (i.e., invasive or non-invasive) (n=1).
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Question 2: What decisions would you make if the test result was positive (in a hypothetical scenario)? For parents who were either willing or unsure about undergoing the PGT test for autism (n=31), we further asked them about their decision, if the test result indicated that their fetus had a chance to have ASD. Three participants (9.6%) felt uncomfortable and refused to respond. Of the remaining parents, 22 participants (71%) said they would continue with their pregnancies while six parents (19.4%) reported that they would prefer to terminate the affected pregnancies, if the PGT results were positive.
Continuing the affected pregnancy Twenty-three parents (74.2%) said they would continue with their hypothetical pregnancies. Preparation for the birth of the child with ASD was the most frequently mentioned reason (43.4%), as one father explained: “I would still have the child, but the benefit would be being able to prepare for the child.” (Male, White, Income: > $75K)
Of those who reported that they would continue with their hypothetical pregnancies (n=23), six parents (26.1%) revealed that it was due to the bond between them and their present ASD-affected children. Hence, if they had another affected pregnancy (a hypothetical situation), they would still continue the pregnancy. One interviewee said: “I
will continue, yes, and I think even at that point if they had some testing that told
me, yes, your child is going to be autistic…I think knowing XXX [deleted the name of the affected child] and knowing how much I love him, I think I would still have the baby.” (Female, Latino, Income: $50K-$75K)
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Four out of the 23 parents (17.4%) who reported that they would continue the affected pregnancy raised concerns about the limitations of the PGT test (e.g., the low diagnostic yield of the test and the failure to detect the severity and types of ASD). For instance, one mother’s response was: “Autism has so many different levels…if you did a genetic test, would it tell me which level I am going to be experiencing? I don’t think so… if my child…is only a little bit slow… it would be such a crime to abort the child.” (Female, Asian, Income: $50K$75K)
Two non-Catholic Christian parents (8.7%) stated that they would continue the pregnancy because of their religious beliefs. One mother affirmed: “No, I wouldn’t [terminate the pregnancy]… I would leave it in God’s hands and if it was meant for it to be…” (Female, White, Income: > $75K)
Terminating the affected pregnancy Six interviewees (19.4%) reported that they would terminate the hypothetical pregnancy if the test results were positive. Five Asian parents (with diverse SES) perceived ASD as a stigma within the Asian community. They explained that having a child with ASD might cause Asian parents to “lose face”. Moreover, these parents asserted ASD was a burden to the affected child, family, and the society. For example, one Asian mother expressed her frustration with the personal and societal burden associated with raising an ASD child. According to her: “If I gave birth to a child with a disability, it might be burdensome to my family and society, and it would also be unfair to the unborn child...” (Female, Asian, Income: $25K-$35K)
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A white participant who had two children diagnosed with ASD remarked: “I do not think abortion is a bad thing…I think I would have aborted that [hypothetical] pregnancy…. he [the affected child] punched me in the face when he was three and knocked out a molar, and he broke all of our furniture… I mean this is not easy life.” (Female, White, Income: > $75K)
DISCUSSION This first qualitative investigation explored attitudes towards PGT and associated reproductive decision-making among parents who had children with ASD. This study has two main strengths. Our sample consisted of parents of children with ASD, a group with a higher recurrence risk of bearing children with ASD compared to other parents in the general population (5, 6). Second, because half of the participants belonged to racial/ethnic minorities, this study could contribute to an understanding of genomics-related health disparities. Our findings highlight several clinical implications. First, although some parents could not decide if they would like to undergo PGT, more than half reported that they would be willing to undergo the test (in a hypothetical scenario). These findings, in conjunction with other studies, demonstrate a general interest in PGT that is driven by a desire to prepare for life with an ASD child and also seek out early interventions. Additionally, many would use PGT results to terminate the pregnancy with an ASD affected fetus (29, 30). Second, about a quarter of our sample reported an unwillingness to undergo the hypothetical PGT for autism. Their unfavorable attitudes were primarily attributed to a lack of perceived value of this test. One possible explanation is that parents associated testing to abortion. Genetic education/counseling prior to the PGT is needed to help parents make informed decisions. Lastly, several parents were undecided about whether they would undergo PGT for autism.
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Their attitudes were related to test characteristics and stages of their pregnancies. If more affordable and accurate PGT for autism were available at an early pregnancy stage, these parents would be more likely to undergo this test. Notably, although PGT for autism raises ethical, legal, and social issues regarding abortion (17), most interviewees preferred to continue their hypothetical affected pregnancies. This finding is contrary to previous studies, which suggest that rare genetic disorders, such as Down syndrome and sex chromosome abnormalities, have a higher termination of pregnancy rate (39, 40). One possible reason might be that our study was conducted in a hypothetical scenario while previous studies were in a real-life situation. Moreover, ASD is a spectrum of disorders with varying severities. Parents might not want to abort a fetus with a mild autistic condition. It is worthwhile to note that a few parents would terminate their hypothetical affected pregnancy if the results of PGT for autism were positive. It is possible that their attitudes towards continuation/termination are influenced by the severity of the ASD condition. Although we did not assess the severity of the ASD among respondents’ children, we observed their children as suffering from more severe forms of ASD. This might impact the quality of life for both parents and their affected children. Consequently, those parents might consider terminating their future affected pregnancies. As the severity of the existing child with ASD might affect parents’ decision-making, future studies are required to explore this issue. Interestingly, Asians in our sample, regardless of their SES levels, supported termination of affected pregnancies. They perceived an ASD child as a burden to their families and society. This finding might be attributed to the participants’ status as a firstgeneration immigrant. Their beliefs might be shaped by the Asian culture where children with disabilities are sometimes stigmatized (41-44). As first-generation immigrants, these parents
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may have faced challenges while living in the United States (45). Having another affected pregnancy might be an additional burden. Previous literature (44) also suggests that some Asian immigrants might consider aborting a fetus who exhibited markers for mental disorders. In addition to culture (stigma), other influences include lack of sufficient financial, family and other supports, and limited access to resources for raising children with special needs. Culturally-tailored interventions and programs may benefit Asian parents raising a child with ASD. This study has several limitations. Parents were given a hypothetical scenario for examining their attitudes toward PGT and pregnancy continuation/termination decisions, and the majority did not plan to have another child. Our findings may differ from the actual situation (46). Another limitation is that the perceived severity of ASD among the affected children was not assessed. Additionally, our participants were recruited from ASD communities/groups. The diagnosis on their children’s ASD was self-reported, and we did not assess the medical records to confirm the diagnoses. Lastly, most of our sample reported high SES. Recruiting parents with low SES is needed for future research to determine if SES impacts their decisions. Despite these limitations, this qualitative study serves as an initial inquiry on which future research can be built (e.g., surveys of large samples of parents with children having ASD regarding their reproductive decisions). Although the majority of parents in our sample expressed interest in undergoing the PGT for autism, some reported concerns about the values, procedures, cost, and validity of the testing. Clinicians should address these concerns. Additionally, we found that there might be a greater intent to terminate affected pregnancies among Asians compared to other racial/ethnic groups. To examine how race/ethnicity might affect parents’ abortion decision-making, survey studies with a large sample size are needed to provide quantitative and more generalizable data.
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Parents who participated in the semi-structured interview (N=42) Q1: Suppose the PGT for autism was offered to you, Would you be willing to undergo the test?
Parents who were unsure about undergoing the test (n=7)
Parents who were willing to undergo the test (n=24)
Parents who were against undergoing the test (n=11)
Q2: What decisions would you make if the test result was positive in a hypothetical scenario?
Continue the pregnancy (n=22)
Discontinue the pregnancy (n=6)
Not reported (n=3)
Figure 1 Interview flow for parents ‘willingness and post-test decisions regarding prenatal genetic testing (PGT) for autism in a hypothetical scenario
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