Prenatal Aneuploidy Screening and Testing Decisions: A Qualitative Study of Patient Motivations and Misconceptions in the Age of Cell-Free DNA
Ethical Legal Social Issues (ELSI) Public Health and Policy
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Primary Categories:
- Prenatal Genetics
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Secondary Categories:
- Prenatal Genetics
Introduction:
Cell free DNA, the most rapidly adopted genetic screening test in recent history, is increasingly available even in practice settings with little to no access to genetic counseling. Recent literature suggests the average prenatal care provider spends less than five minutes discussing genetic testing options in pregnancy. In recall studies, patients are not always aware of the testing that has been ordered. Pregnant patients with limited educational attainment, especially those who do not speak English as a primary language, have been underrepresented in prenatal genetics education research, face barriers to receiving genetic counseling, and are particularly vulnerable to lack of informed consent in prenatal genetics. This qualitative study sought to explore how diverse patients presenting for prenatal care at a community health center or resident clinic made decisions about prenatal aneuploidy screening and diagnosis options. We sought to investigate their motivations for pursuing testing and misconceptions that could be targeted in an educational intervention.
Methods:
English and Spanish speaking patients 18 years or greater who presented for dating ultrasound were eligible. Exclusion criteria included: donor oocyte, prior genetic counseling/testing in the current pregnancy, abnormal nuchal translucency, pregnancy loss, multiple gestation, fetal anomaly. Participants viewed an educational video on aneuploidy testing options to provide a shared framework for an in-depth interview that explored factors impacting decision-making. Transcripts were audio-recorded, transcribed verbatim and translated if needed. A coding structure was developed based on study objectives and iteratively refined to highlight de novo codes. Transcripts were double-coded. NVivo was used to facilitate qualitative thematic analysis.
Results:
Thematic saturation was reached after 20 interviews. Demographic data of participants: Median age 30.5 [range 20-40]; 50% English-speaking, 50% Spanish-speaking; 55% White; 60% Hispanic; 65% with highest educational attainment of high school or equivalent; 60% multiparous; 20% had genetic counseling in a prior pregnancy. The following themes were identified with representative quotes: 1) Safety of testing, efficiency of results, and desire to learn the fetal sex were noted as top priorities even with miscomprehension of what the testing option would evaluate. As one participant stated: “I didn’t really understand the doctor [regarding cell free DNA]. Something that interested me a lot is that I saw that I could see the sex of the baby” - Spanish-speaking, High School-educated. 2) Many participants decided to pursue cell-free DNA with the perception that a low-risk result could provide reassurance of a healthy pregnancy, not fully understanding its limitations. “It’s really something good to know if the baby’s gonna come out healthy of not” - English-speaking, High School-educated. 3) Participants’ thought process about risks of aneuploidy falsely referenced unremarkable family history and prior low-risk pregnancy. They conflated hereditary conditions and aneuploidy: “Stuff like that really don’t run in our family, so I think that’s why [my family] always turned it down if they were asked to do it” - English-speaking, High School-educated. 4) Generational differences in testing options posed a barrier to participants feeling informed when making a choice. For example, regarding cell free DNA, “I just feel that everything they teach me, well, is new to me…And now in my generation, there are so many things that you didn’t hear your parents tell you…” - Spanish-speaking, High School-educated. 5) Mistrust or perceived lack of quality counseling motivated self-directed learning via digital resources. For example: “Sometimes I search for something on Google and then on Instagram things similar to what I searched for appear and information appears…And I go in and soak up everything I read”- Spanish-speaking, Bachelor’s degree.
Conclusion:
Understanding this population’s experiences and perceptions of prenatal aneuploidy options will inform initiatives to improve equitable prenatal genetics education to promote informed consent.
Cell free DNA, the most rapidly adopted genetic screening test in recent history, is increasingly available even in practice settings with little to no access to genetic counseling. Recent literature suggests the average prenatal care provider spends less than five minutes discussing genetic testing options in pregnancy. In recall studies, patients are not always aware of the testing that has been ordered. Pregnant patients with limited educational attainment, especially those who do not speak English as a primary language, have been underrepresented in prenatal genetics education research, face barriers to receiving genetic counseling, and are particularly vulnerable to lack of informed consent in prenatal genetics. This qualitative study sought to explore how diverse patients presenting for prenatal care at a community health center or resident clinic made decisions about prenatal aneuploidy screening and diagnosis options. We sought to investigate their motivations for pursuing testing and misconceptions that could be targeted in an educational intervention.
Methods:
English and Spanish speaking patients 18 years or greater who presented for dating ultrasound were eligible. Exclusion criteria included: donor oocyte, prior genetic counseling/testing in the current pregnancy, abnormal nuchal translucency, pregnancy loss, multiple gestation, fetal anomaly. Participants viewed an educational video on aneuploidy testing options to provide a shared framework for an in-depth interview that explored factors impacting decision-making. Transcripts were audio-recorded, transcribed verbatim and translated if needed. A coding structure was developed based on study objectives and iteratively refined to highlight de novo codes. Transcripts were double-coded. NVivo was used to facilitate qualitative thematic analysis.
Results:
Thematic saturation was reached after 20 interviews. Demographic data of participants: Median age 30.5 [range 20-40]; 50% English-speaking, 50% Spanish-speaking; 55% White; 60% Hispanic; 65% with highest educational attainment of high school or equivalent; 60% multiparous; 20% had genetic counseling in a prior pregnancy. The following themes were identified with representative quotes: 1) Safety of testing, efficiency of results, and desire to learn the fetal sex were noted as top priorities even with miscomprehension of what the testing option would evaluate. As one participant stated: “I didn’t really understand the doctor [regarding cell free DNA]. Something that interested me a lot is that I saw that I could see the sex of the baby” - Spanish-speaking, High School-educated. 2) Many participants decided to pursue cell-free DNA with the perception that a low-risk result could provide reassurance of a healthy pregnancy, not fully understanding its limitations. “It’s really something good to know if the baby’s gonna come out healthy of not” - English-speaking, High School-educated. 3) Participants’ thought process about risks of aneuploidy falsely referenced unremarkable family history and prior low-risk pregnancy. They conflated hereditary conditions and aneuploidy: “Stuff like that really don’t run in our family, so I think that’s why [my family] always turned it down if they were asked to do it” - English-speaking, High School-educated. 4) Generational differences in testing options posed a barrier to participants feeling informed when making a choice. For example, regarding cell free DNA, “I just feel that everything they teach me, well, is new to me…And now in my generation, there are so many things that you didn’t hear your parents tell you…” - Spanish-speaking, High School-educated. 5) Mistrust or perceived lack of quality counseling motivated self-directed learning via digital resources. For example: “Sometimes I search for something on Google and then on Instagram things similar to what I searched for appear and information appears…And I go in and soak up everything I read”- Spanish-speaking, Bachelor’s degree.
Conclusion:
Understanding this population’s experiences and perceptions of prenatal aneuploidy options will inform initiatives to improve equitable prenatal genetics education to promote informed consent.
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