Prenatal Preparation: Action and Results (PREPARE)

Dolan SM, Rubeck S, Watts J, Allyse M, Counihan K, Goldenberg A, Kuppermann M, Meredith S, Stoll K, Rippel L, Skotko BG, Talati A, Vora NL, Michie M. “Let me figure out how to help you:” Perspectives on preparing to parent a child with a genetic condition. Poster presentation. American College of Medical Genetics and Genomics annual meeting, March 18-22, 2025; Los Angeles, CA.

Abstract

Introduction: Genetic testing has become ubiquitous in prenatal care, historically with the assumption that genetic information aids decisions about pregnancy continuation. But for families choosing to continue a pregnancy, it is unclear whether and how prenatal genetic information holds benefit, since the concept of prenatal preparation is historically undefined and under-investigated.
Methods: As part of a longitudinal study conceptualizing prenatal preparation, qualitative interviews were conducted with parents who had received a high risk screening or diagnostic fetal genetic test result pre- and/or postnatally. Site partners at 3 geographically-diverse US health systems offered study participation as an opt-in to eligible patients and their partners. Parents were interviewed once prenatally, when possible, and twice postnatally, within 6 months of birth and at approximately 1 year post-birth. Single interviews with health care providers (HCPs, including clinical geneticists, genetic counselors, OB/GYN/MFMs, and others) who deliver prenatal diagnoses and/or provide follow-up care for patients from study sites were also conducted. Subsequently, we compared the findings with the results from complementary and robust qualitative and mixed-methods studies of patients who received a prenatal diagnosis of Down syndrome [Artal et al., Meredith et al.] and a PCORI project involving Black and Hispanic women learning about a diagnosis of Down syndrome [Meredith & Wright].
Results: A total of 64 interviews were conducted with 33 parents between December 2020 and December 2023. Of the 24 families represented, 9 had received a diagnosis of Down syndrome and 15 received diagnoses of other genetic conditions, several of which were rare and carried uncertain prognoses. Interviews with HCPs (n=35) were conducted between October 2021 and January 2024. In interviews, parents and HCPs discussed meanings of and approaches to preparation, including ways that genetic test results were delivered and how families were supported from pregnancy through one-year post-birth. Parents noted that receiving information prenatally allowed them to adapt to their child’s condition earlier, emotionally process the diagnosis before delivery, and seek out appropriate medical care and social support. HCPs emphasized the importance of genetic information for facilitating birth planning and interventions at or immediately post-birth; they also discussed helping parents find emotional and clinical support, access support networks, and navigate healthcare systems. Both parents and HCPs discussed challenges associated with prenatal genetic information, including limited ability to predict long-term prognosis, potential anxiety and stress for parents, and limitations in cases of rare disease, uncertain variants, and life-limiting diagnoses. The model of an integrated care coordinator, who supports families holistically from diagnosis to post-birth, assisting with healthcare system logistics, health literacy, and referrals, was discussed by both groups as particularly helpful. Complementary studies by Artal et al. (n=89) and Meredith et al. (n=242) and the PCORI project (n=36) affirmed that parents wanted information about peer support networks (ideally from peers who share the same racial or ethnic identity), balanced life outcome information, and information about supports and services to address social determinants of health.
Conclusion: Preparing to parent a child with a genetic condition requires access to condition-specific clinical, informational, and social support that is culturally competent. Access to such resources was uneven among families in this study, though perhaps the most success was reported for a model of patient- centered care coordination. However, as the scope and pervasiveness of prenatal genetic testing increases, more families will receive uncertain and rare genetic test results, with significant pragmatic challenges to support systems within and outside healthcare institutions. Without adequate resources, including access to expert medical care and social support networks, the benefits of prenatal genetic information for families may be largely unrealized.

Skotko BG, Michie M. “Lived experiences of parents who have received a prenatal diagnosis of Down syndrome.” Paper presentation. Down Syndrome Education International 2025 Down Syndrome Research Forum (virtual conference); March 2025.

Abstract:
This presentation explores the concept of prenatal preparation for parents receiving a prenatal genetic diagnosis, focusing on how genetic information benefits families who continue their pregnancy.

Background
Prenatal genetic testing is increasingly common, but its benefits for families continuing their pregnancy are unclear. A 2003 study found that parents of children with Down syndrome reported negative experiences receiving a prenatal diagnosis, including physician pity and discouragement from continuing the pregnancy. A recent study suggests that these negative perceptions persist. The concept of prenatal “preparation” remains undefined and under-investigated.

Research Questions
This presentation incorporates two recent studies whose aims include defining prenatal preparation, exploring how parents use genetic information, and understanding how healthcare providers can best support expectant couples receiving a prenatal diagnosis of Down syndrome.

Method
These studies involved mailed questionnaires and longitudinal interviews with parents who received pre- or postnatal genetic information.  Additional interviewers were conducted with healthcare providers who deliver prenatal diagnoses or provide follow-up care.

Results
In qualitative interviews, parents reported that prenatal genetic information does help them adapt to their child’s condition, process the diagnosis emotionally, and seek medical and social support.  However, compared to research 20 years ago, parents continued to report dissatisfaction with their prenatal providers.  Most parents reported dissatisfaction when providers conveyed pity or attempted to influence their decision-making about the pregnancy. Healthcare providers highlighted the value of genetic information for birth planning, early interventions, and connecting families with support services.

Conclusion
Interventions, to date, have failed to improve parents’ perceptions of their prenatal medical support.  Effective prenatal preparation requires culturally competent, condition-specific clinical, informational, and social support. Access to these resources is crucial, especially as prenatal genetic testing expands and families receive more uncertain or rare results.

For more information on the Research Forum, please check here: https://www.down-syndrome.org/en-us/research/forum/2025/

“Partnering with Genetic Counselors to Engage in Medical Outreach: Offering Accurate, Balanced, and Up-to-Date Patient Information and Support”
Authors: Stephanie Meredith, MA, DrPH and Katie Stoll, MS, CGC
Albuquerque, NM

PIRC members, Stephanie Meredith and Katie Stoll presented some information about the results of the PREPARE study during their paper presentation at the DSAIA 2025 Conference.

Rubeck S., Counihan K., Watts J., Riggan K., Allyse M., Goldenberg A., Michie M. “Narrating a journey of preparation: Longitudinal interviews with parents who received prenatal and postnatal genetic information.” Presented at the 26th Annual Conference for the American Society for Bioethics and Humanities. September 18-21st, 2024. St. Louis, MO.

Abstract: Prenatal diagnosis is often said to enable “preparation” for a child with a genetic condition, but this simple term belies a complex and multifaceted journey from receiving genetic information to birth and beyond. While thousands of families traverse this territory each year, this vulnerable period is challenging to study, and our understanding of what is meant by “preparation” is correspondingly poor. Our study aimed to develop a conceptual model for prenatal preparation by gathering parents’ experiences longitudinally between prenatal screening and a year after birth. These semi-structured interviews offer in-depth insights into the ways that parents digest genetic information, access medical services, find social support, and plan for the future. The narratives of five individual families selected from our multisite study illustrate the diversity of experiences of families receiving prenatal and postnatal genetic information; they also reflect cross-cutting themes and components within the concept of preparation. From a mother of a child with Down syndrome, we hear the ways that parents integrate genetic information into a holistic understanding of their child. From two families with rare genetic results, we discover the ways parents live with genomic uncertainty and the crucial role of medical and social supports. And from two families with life-limiting diagnoses, we learn how their diagnoses launched journeys of hope, uncertainty, love, and grief. Together, these stories demonstrate the power of longitudinal engagement with patients and families to provide rich narratives, helping illuminate an understudied body of experience.

Rubeck S., Watts J., Allyse M., Goldenberg A., Dolan S., Riggan K., Rippel L., Vora N., Michie M. “Prenatal genetic information as preparation: Parents and clinicians reimagining benefits for families and future children.” Presented at the 6th ELSI Conference. June 10-12th 2024. New York City, NY.

Abstract: Genetic testing has become ubiquitous in prenatal care, historically with the assumption that genetic information aids decisions about pregnancy continuation. But for families choosing to continue a pregnancy, it is unclear whether and how prenatal genetic information holds benefit, since the concept of prenatal preparation is largely undefined and under-investigated. As part of a qualitative study conceptualizing prenatal preparation, we conducted longitudinal interviews with parents receiving pre- and/or post-natal genetic information at three US health systems, and interviewed clinicians who deliver prenatal diagnoses or provide follow-up care. Parents and clinicians discussed meanings of and approaches to preparation, including ways that genetic test results were delivered and how families were supported from pregnancy through one-year post-birth. Parents noted that receiving information prenatally allowed them to adapt to their child’s condition earlier and seek out appropriate medical care and social support. Healthcare providers emphasized the importance of genetic information for pursuing emotional and clinical support, accessing support networks, and navigating the healthcare system. However, as the scope and pervasiveness of prenatal genetic testing increase, more families will receive uncertain and rare chromosomal results, with significant pragmatic challenges to support systems within and outside healthcare institutions. Our findings suggest prenatal preparation requires access to condition-specific medical, informational, and social support; without these, the benefits of prenatal genetic information for families may be largely unrealized. 

Rubeck S., Counihan K., Watts J., Riggan K., Allyse M., Goldenberg A., Michie M., “Preparing to Parent a Child with a Genetic Condition: Key Stakeholders Weigh in on Prenatal Genetic Testing and its Implications.” Presented at the 25th Annual Conference for the American Society for Bioethics and Humanities. October 11-14th, 2023. Baltimore, MD.

Abstract: Genetic testing has become ubiquitous in prenatal care, under the assumption that genetic information helps families make pregnancy outcome decisions. However, insufficient research has addressed whether and how prenatal genetic information benefits families continuing a pregnancy, since the concept of prenatal preparation is largely undefined and under-investigated. As part of a wider qualitative study conceptualizing prenatal preparation, we conducted longitudinal interviews with parents whose child was diagnosed with a prenatally discoverable genetic condition at three health systems in geographically diverse US regions, and single interviews with clinicians in those health systems who deliver prenatal diagnoses and/or provide follow-up care. Parents were interviewed once prenatally, when possible, and twice postnatally. Interviews with parents and clinicians discussed meanings of and approaches to prenatal preparation, including ways that genetic test results were delivered and supported from pregnancy through one-year post-birth. Families shared that receiving information prenatally allowed them to begin the diagnostic journey earlier and seek out appropriate medical and social support. Healthcare providers emphasized the importance of emotional and clinical support and follow-up care for processing diagnoses, accessing support networks, and navigating the healthcare system. Our findings suggest that as the scope and ubiquity of prenatal genetic screening increase, more families will receive uncertain and rare chromosomal results, with significant pragmatic challenges to appropriate support systems. Although preparation is a justification often provided for widespread prenatal genetic screening, that preparation requires access to adequate condition-specific medical, informational, and social support; without these, families face challenges processing genetic results.

Rubeck S., Craig K., Michie M. “Prenatal Preparation; Longitudinal Interviews with Parents whose Child was Diagnosed with a Genetic Condition.” In: Poster Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19–21 June 2023

Anemia, F. (2023). Poster Abstracts of the ISPD 27th International Conference on Prenatal Diagnosis and Therapy, Edinburgh, United Kingdom, 19-21 June 2023.

Abstract:
Objectives: Prenatal genetic testing options have proliferated, but insufficient scholarly literature has addressed whether and how prenatal diagnosis provides benefits to parents continuing a pregnancy, since the concept of prenatal preparation is largely undefined and under-investigated. As part of a wider qualitative study creating a conceptual model of prenatal preparation, we conducted longitudinal interviews with parents whose child was diagnosed with a prenatally discoverable genetic condition across three diverse geographical regions in the US.

Methods: Parents were identified through clinic visits at three health systems and were interviewed once prenatally, when possible, and twice postnatally. Interviews aimed to characterize meanings of and approaches to prenatal preparation: exploring parental experiences of pre and postnatal screening, diagnostic testing, and results delivery; investigating the social and informational support received by families from initial testing through one-year post-birth; and asking what preparation meant to them throughout this period.

Results: Interviewees pointed out that parents are “never fully prepared,” in any scenario, for raising a child with their own unique journey. Yet, parents receiving prenatal genetic information did express that starting the diagnostic journey early allowed them the opportunity to adjust to their new reality and seek out medical and social support. Interviewees observed that over time, they developed a holistic view of their child, not defined by diagnosis or disability. Families described the positive and negative impacts of diagnosis delivery and the importance of clinical interactions to their subsequent coping with the unexpected news. Parents shared that their uncertainties about anticipated phenotypic expression and apprehensions regarding raising their child were diminished postnatally once they were able to physically see and bond with their child.

Conclusions: Although preparation is a justification often provided for widespread prenatal genetic screening, our findings suggest that preparation requires access to adequate condition-specific medical, informational, and social support; without these, families face challenges processing genetic results. As the scope and ubiquity of prenatal genetic screening increase, more parents will receive uncertain and rare chromosomal results, with significant pragmatic challenges to appropriate support systems.

Poster:

Craig K., Riggan K., Michie M. “‘Never Fully Prepared’: Views of Patient Advocacy Groups on How to Prepare Families For a Child with a Genetic Condition.” Presented at the 23rd Annual Conference for the American Society for Bioethics and Humanities; October 11-16, 2021. Virtual Conference

Abstract: Little research has been done on the meaning of prenatal preparation, and whether/how prenatal diagnosis enables families to prepare for the birth of a child with complex medical needs and/or disability. As part of a larger study creating a conceptual model of prenatal preparation, we conducted qualitative interviews with local and national Patient/Parent Advocacy Groups (PAG) supporting families with genetic conditions, including aneuploidies and microdeletion syndromes. The interview explored the resources and supports PAGs offer to families and their views on how best to prepare for a child with a genetic condition. Interviewees noted the importance of presenting accurate and balanced information to families and providing opportunities to connect with other parents and children. Several PAGs stated that they did not engage with families prior to the pregnancy continuation decision, but rather felt their role was to connect families with the larger condition-specific community post-decision. Interviewees commonly reported the primary advantage of prenatal preparation is to understand and plan for a child’s medical needs; however, detailed presentation of potential or adult-onset complications may overwhelm families adjusting to a prenatal diagnosis. Finally, interviewees stressed that no parent is fully prepared for the birth of any child and that no amount of knowledge can fully prepare someone for the lived experience of raising a child with uniquely individual strengths and challenges, irrespective of a genetic diagnosis. Understanding the role of support groups is crucial to creating ethical guidance on offering and supporting prenatal genetic testing.