Prenatal Genomic Testing and Abortion: Parental Perspectives in the Context of a Fetal Structural Anomaly
Ethical Legal Social Issues (ELSI) Public Health and Policy
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Introduction:
How prenatal genomic testing may inform parental decision-making in the case of a fetal structural anomaly has been a concern for some; particularly whether the test results lead to termination of pregnancy. These concerns may have broader implications, such as limiting access to these tests in the prenatal period. This study aimed to explore the relationship of genomic sequencing to parental reproductive decision-making in the setting of fetal structural anomalies.
Methods:
We conducted mixed methods secondary analysis of data from pregnant individuals with sonographic fetal structural anomalies who underwent prenatal exome sequencing between August 2021 and September 2023. Quantitative data was collected from 204 participants, including sociodemographic characteristics, pregnancy outcomes, sequencing results, and timing of pregnancy termination. Additionally, semi-structured interviews were conducted among a subset of 23 participants. Purposive sampling was used to ensure diverse representation based on racial/ethnic background and pregnancy outcomes, and partners were also invited. A total of 67 interviews were conducted (23 patients and 13 partners; 1-3 interviews each, including baseline, post-results, and one-year follow-up), exploring parental experiences with sequencing, preferences for, and utility of results. Interviews were recorded, transcribed, and thematic analysis was conducted with a focus on how exome sequencing influenced reproductive decisions including whether to continue or terminate the pregnancy.
Results:
Quantitative findings: Of the 204 participants in the exome sequencing study, mean maternal and paternal age was 33.4 and 35.2 years, respectively; 106 pregnancies (52.0%) were ongoing at the time of enrollment. Of these, most resulted in a live birth (71.7%), with the remainder resulting in termination (18.9%); neonatal/infant death (7.5%); or stillbirth (1.9%). In this main cohort, only two participants terminated their pregnancy after receiving results. One had a negative test result, which was "reassuring" for the couple, but therapeutic abortion was necessary due to severe preeclampsia later in the pregnancy. Of the subset of 23 participants who participated in interviews with their partners, 9 (39%) had ongoing pregnancies at the time of enrollment (resulting in 6 live births and 3 miscarriages); 3 (13%) had experienced miscarriage; and 11 cases (47%) had been terminated before enrollment.
Qualitative findings: Interviews revealed feelings of loss and grief, and women shared feelings of guilt about their fetus' condition. Many described "quality of life" expectations for their future child based on their understanding of structural anomaly as well as information sought beyond the clinic, including online research and support groups. Perceived severity of the condition based on ultrasound findings was an important factor for those who terminated. Exome findings provided decisional reassurance for different reasons: for couples who terminated, a positive result was reassuring that the pregnancy was not terminated for nothing, whereas a negative result meant that the structural anomaly was unlikely to affect future pregnancies. For couples who continued with their pregnancies, a negative result was reassuring ("genetic diagnoses" were perceived to be more severe); and a positive result lead to continuation of the pregnancy, providing reassurance for a more hopeful prognosis. Unprompted, many women shared their distress about abortion restrictions.
Conclusion:
Most couples who sought diagnostic information about their fetus through prenatal genomic sequencing research had already decided to continue or terminate a pregnancy based on ultrasound findings. While the results of exome sequencing appeared to be decision-affirming for some patients, most understood the severity of the fetal structural anomalies irrespective of exome sequencing results. Even if future tests can use significantly shorter turnaround times, the decision-making process of parents will likely remain complex and painful. Further insights from those who have pregnancies with structural anomalies are important to gain a deeper understanding of the utility of genomic sequencing for patients facing difficult reproductive decisions.
How prenatal genomic testing may inform parental decision-making in the case of a fetal structural anomaly has been a concern for some; particularly whether the test results lead to termination of pregnancy. These concerns may have broader implications, such as limiting access to these tests in the prenatal period. This study aimed to explore the relationship of genomic sequencing to parental reproductive decision-making in the setting of fetal structural anomalies.
Methods:
We conducted mixed methods secondary analysis of data from pregnant individuals with sonographic fetal structural anomalies who underwent prenatal exome sequencing between August 2021 and September 2023. Quantitative data was collected from 204 participants, including sociodemographic characteristics, pregnancy outcomes, sequencing results, and timing of pregnancy termination. Additionally, semi-structured interviews were conducted among a subset of 23 participants. Purposive sampling was used to ensure diverse representation based on racial/ethnic background and pregnancy outcomes, and partners were also invited. A total of 67 interviews were conducted (23 patients and 13 partners; 1-3 interviews each, including baseline, post-results, and one-year follow-up), exploring parental experiences with sequencing, preferences for, and utility of results. Interviews were recorded, transcribed, and thematic analysis was conducted with a focus on how exome sequencing influenced reproductive decisions including whether to continue or terminate the pregnancy.
Results:
Quantitative findings: Of the 204 participants in the exome sequencing study, mean maternal and paternal age was 33.4 and 35.2 years, respectively; 106 pregnancies (52.0%) were ongoing at the time of enrollment. Of these, most resulted in a live birth (71.7%), with the remainder resulting in termination (18.9%); neonatal/infant death (7.5%); or stillbirth (1.9%). In this main cohort, only two participants terminated their pregnancy after receiving results. One had a negative test result, which was "reassuring" for the couple, but therapeutic abortion was necessary due to severe preeclampsia later in the pregnancy. Of the subset of 23 participants who participated in interviews with their partners, 9 (39%) had ongoing pregnancies at the time of enrollment (resulting in 6 live births and 3 miscarriages); 3 (13%) had experienced miscarriage; and 11 cases (47%) had been terminated before enrollment.
Qualitative findings: Interviews revealed feelings of loss and grief, and women shared feelings of guilt about their fetus' condition. Many described "quality of life" expectations for their future child based on their understanding of structural anomaly as well as information sought beyond the clinic, including online research and support groups. Perceived severity of the condition based on ultrasound findings was an important factor for those who terminated. Exome findings provided decisional reassurance for different reasons: for couples who terminated, a positive result was reassuring that the pregnancy was not terminated for nothing, whereas a negative result meant that the structural anomaly was unlikely to affect future pregnancies. For couples who continued with their pregnancies, a negative result was reassuring ("genetic diagnoses" were perceived to be more severe); and a positive result lead to continuation of the pregnancy, providing reassurance for a more hopeful prognosis. Unprompted, many women shared their distress about abortion restrictions.
Conclusion:
Most couples who sought diagnostic information about their fetus through prenatal genomic sequencing research had already decided to continue or terminate a pregnancy based on ultrasound findings. While the results of exome sequencing appeared to be decision-affirming for some patients, most understood the severity of the fetal structural anomalies irrespective of exome sequencing results. Even if future tests can use significantly shorter turnaround times, the decision-making process of parents will likely remain complex and painful. Further insights from those who have pregnancies with structural anomalies are important to gain a deeper understanding of the utility of genomic sequencing for patients facing difficult reproductive decisions.