Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia
IntroductionPre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aim...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2024.1482902/full |
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| author | Jessica L. Sandy Jessica L. Sandy Jessica L. Sandy Grant Betts Jessica L. Harper Suzanne M. Nevin Suzanne M. Nevin Suzanne M. Nevin Rebecca Deans Rebecca Deans Rebecca Deans Kristen A. Neville Kristen A. Neville |
| author_facet | Jessica L. Sandy Jessica L. Sandy Jessica L. Sandy Grant Betts Jessica L. Harper Suzanne M. Nevin Suzanne M. Nevin Suzanne M. Nevin Rebecca Deans Rebecca Deans Rebecca Deans Kristen A. Neville Kristen A. Neville |
| author_sort | Jessica L. Sandy |
| collection | DOAJ |
| description | IntroductionPre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families’ lived experiences with CAH and the couples’ subsequent fertility journey. A better healthcare professional understanding of these experiences may subsequently help guide clinicians to better manage and support families of children with CAH and other autosomal recessive conditions.MethodsAll parents of current children of a tertiary service in 2020 with 21-hydroxylase deficient CAH who made an active decision regarding family planning after diagnosis of their index child were invited to participate in a semi-structured interview. Thematic analysis was performed using an inductive, semantic approach.ResultsThirty families (34 children) were identified. Fourteen considered subsequent children and had directed genetic counselling. Eight decided to have additional children of whom seven agreed to participate. Thematic analysis identified six key domains. Psychological impact surrounding the CAH diagnosis was long-lasting, causing symptoms of trauma including depression and anxiety, and influencing a couple’s choice to pursue PGT to avoid having another affected child. The perception of the index child having a mild phenotype, and fear of a more severe phenotype, often supported this decision. Conversely, lived experience of CAH and low day-to-day impact, along with a negative experience of PGT, with a greater than anticipated financial, physical, and emotional toll, led some families to subsequently consider natural conception. The role of the healthcare professional (HCP) was important in the CAH and family planning journeys. A perceived poor understanding of CAH, overstating its potential seriousness, contributed to distress. Parents reported feeling pressured to undergo PGT. Peer-support had a universally positive impact on family experience.Discussion/conclusionsThis study highlights the complex and dynamic nature of fertility decision-making, and the importance of HCP empathy and open-mindedness. Education of HCP and encouraging peer support may improve the CAH and fertility journey for families. |
| format | Article |
| id | doaj-art-19723e6c170946d8b795f19758782f39 |
| institution | Kabale University |
| issn | 1664-2392 |
| language | English |
| publishDate | 2025-01-01 |
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| series | Frontiers in Endocrinology |
| spelling | doaj-art-19723e6c170946d8b795f19758782f392025-01-07T05:23:49ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-01-011510.3389/fendo.2024.14829021482902Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasiaJessica L. Sandy0Jessica L. Sandy1Jessica L. Sandy2Grant Betts3Jessica L. Harper4Suzanne M. Nevin5Suzanne M. Nevin6Suzanne M. Nevin7Rebecca Deans8Rebecca Deans9Rebecca Deans10Kristen A. Neville11Kristen A. Neville12Department of Endocrinology, Sydney Children’s Hospital, Randwick, NSW, AustraliaChildren’s Hospital Westmead Clinical School, University of Sydney, Sydney, NSW, AustraliaInstitute of Endocrinology and Diabetes, The Children’s Hospital at Westmead, Westmead, NSW, AustraliaDepartment of Endocrinology, Sydney Children’s Hospital, Randwick, NSW, AustraliaDepartment of Endocrinology, Sydney Children’s Hospital, Randwick, NSW, AustraliaInstitute of Endocrinology and Diabetes, The Children’s Hospital at Westmead, Westmead, NSW, AustraliaSchool of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW, AustraliaBehavioural Sciences Unit, Kids Cancer Centre, Sydney Children’s Hospital, Randwick, NSW, AustraliaDepartment of Endocrinology, Sydney Children’s Hospital, Randwick, NSW, AustraliaSchool of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW, AustraliaDepartment of Gynaecology, Royal Hospital for Women, Randwick, NSW, AustraliaDepartment of Endocrinology, Sydney Children’s Hospital, Randwick, NSW, AustraliaSchool of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW, AustraliaIntroductionPre-implantation testing (PGT) is often suggested by healthcare professionals (HCP) to parents of children with congenital adrenal hyperplasia (CAH) considering subsequent children. Despite this, some families choose to conceive naturally without genetic testing and intervention. The aims of this study were to explore fertility choices of couples with a child with CAH and the decision making process and perceptions behind these choices, and to explore the families’ lived experiences with CAH and the couples’ subsequent fertility journey. A better healthcare professional understanding of these experiences may subsequently help guide clinicians to better manage and support families of children with CAH and other autosomal recessive conditions.MethodsAll parents of current children of a tertiary service in 2020 with 21-hydroxylase deficient CAH who made an active decision regarding family planning after diagnosis of their index child were invited to participate in a semi-structured interview. Thematic analysis was performed using an inductive, semantic approach.ResultsThirty families (34 children) were identified. Fourteen considered subsequent children and had directed genetic counselling. Eight decided to have additional children of whom seven agreed to participate. Thematic analysis identified six key domains. Psychological impact surrounding the CAH diagnosis was long-lasting, causing symptoms of trauma including depression and anxiety, and influencing a couple’s choice to pursue PGT to avoid having another affected child. The perception of the index child having a mild phenotype, and fear of a more severe phenotype, often supported this decision. Conversely, lived experience of CAH and low day-to-day impact, along with a negative experience of PGT, with a greater than anticipated financial, physical, and emotional toll, led some families to subsequently consider natural conception. The role of the healthcare professional (HCP) was important in the CAH and family planning journeys. A perceived poor understanding of CAH, overstating its potential seriousness, contributed to distress. Parents reported feeling pressured to undergo PGT. Peer-support had a universally positive impact on family experience.Discussion/conclusionsThis study highlights the complex and dynamic nature of fertility decision-making, and the importance of HCP empathy and open-mindedness. Education of HCP and encouraging peer support may improve the CAH and fertility journey for families.https://www.frontiersin.org/articles/10.3389/fendo.2024.1482902/fullcongenital adrenal hyperplasiapreimplantation diagnosisdecision-makingprenatal diagnosisfamily planning |
| spellingShingle | Jessica L. Sandy Jessica L. Sandy Jessica L. Sandy Grant Betts Jessica L. Harper Suzanne M. Nevin Suzanne M. Nevin Suzanne M. Nevin Rebecca Deans Rebecca Deans Rebecca Deans Kristen A. Neville Kristen A. Neville Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia Frontiers in Endocrinology congenital adrenal hyperplasia preimplantation diagnosis decision-making prenatal diagnosis family planning |
| title | Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia |
| title_full | Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia |
| title_fullStr | Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia |
| title_full_unstemmed | Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia |
| title_short | Family planning and preimplantation testing: family experiences in congenital adrenal hyperplasia |
| title_sort | family planning and preimplantation testing family experiences in congenital adrenal hyperplasia |
| topic | congenital adrenal hyperplasia preimplantation diagnosis decision-making prenatal diagnosis family planning |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2024.1482902/full |
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