Preimplantation genetic diagnosis for monogenic disorders makes it possible to identify and select embryos free of specific genetic mutations prior to uterine transfer, using embryos produced via medically assisted reproductive technologies. Since 2015, the Italian legal system has allowed parents who are carriers of, or affected by, monogenic hereditary conditions, including autosomal dominant polycystic kidney disease (ADPKD), to access preimplantation genetic diagnosis. However, the experience remains limited, and its application in particular to a late onset disease like ADPKD raises clinical and ethical concerns. These include the potential health risks associated with assisted reproductive technologies for the woman, the risk of assisted reproductive technology failure, moral permissibility of embryo selection, psychosocial implications for the couple and child, and issues related to equitable access to these treatments. An effective preconception counseling strategy should be grounded in a shared decision-making framework involving the prospective parents and a multidisciplinary medical team, including specialists in nephrology, obstetrics, and human genetics. This review aims to discuss the principal bioethical considerations surrounding preimplantation genetic diagnosis for ADPKD, in order to support clinicians involved in genetic counseling and reproductive decision-making.

ADPKD, pregnancy and preimplantation selection: clinical and bioethical considerations

Mauro Tescaro;
2026-01-01

Abstract

Preimplantation genetic diagnosis for monogenic disorders makes it possible to identify and select embryos free of specific genetic mutations prior to uterine transfer, using embryos produced via medically assisted reproductive technologies. Since 2015, the Italian legal system has allowed parents who are carriers of, or affected by, monogenic hereditary conditions, including autosomal dominant polycystic kidney disease (ADPKD), to access preimplantation genetic diagnosis. However, the experience remains limited, and its application in particular to a late onset disease like ADPKD raises clinical and ethical concerns. These include the potential health risks associated with assisted reproductive technologies for the woman, the risk of assisted reproductive technology failure, moral permissibility of embryo selection, psychosocial implications for the couple and child, and issues related to equitable access to these treatments. An effective preconception counseling strategy should be grounded in a shared decision-making framework involving the prospective parents and a multidisciplinary medical team, including specialists in nephrology, obstetrics, and human genetics. This review aims to discuss the principal bioethical considerations surrounding preimplantation genetic diagnosis for ADPKD, in order to support clinicians involved in genetic counseling and reproductive decision-making.
2026
Medically assisted reproductive technologies
Preimplantation genetic diagnosis
Reproductive decision-making
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/1197048
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