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Elements of Informed Consent for Preimplantation Genetic Diagnosis

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Screening the Single Euploid Embryo

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Abstract

Informed consent for preimplantation genetic diagnosis (PGD) is especially complex because it includes several procedures, all of which have risks that must be discussed: PGD involves the creation of embryos by in vitro fertilization (IVF), the biopsy of one or more cells from the early embryo, and the genetic testing of the biopsied cell(s) to determine which embryo(s) to implant into the uterus. This review focuses on the elements of informed consent for the embryo biopsy and genetic testing components of PGD, assuming that informed consent for IVF itself is better understood due to its longer history. To be fully informed about the risks associated with the embryo biopsy, prospective parents should be made aware of the results from mouse and human safety studies. While some of these studies have found the procedure to be safe based on specific outcomes at certain time points, different studies have detected neurological and other abnormalities in embryo-biopsied offspring compared to controls. No long-term studies assessing the safety of the embryo biopsy procedure in humans past the age of 4 have been published. For the genetic testing component of PGD, prospective parents should be aware of the chance of misdiagnosis and the need for additional prenatal testing if they wish to confirm the results of the embryo testing prior to birth. In addition, results of comprehensive genetic testing may reveal unanticipated information about long-term health risks of implanted embryos, potentially compromising the resulting child’s right to an open future. Furthermore, in selecting for a particular trait, prospective parents may inadvertently also be selecting for embryos with an increased risk of an unanticipated disease as a result of linked genes or heterozygote advantage. Finally, prospective parents should be aware of the social implications associated with selecting the characteristics of their offspring.

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Note Added in Proof

While this chapter was in production, Winter and colleagues reported no significant differences in measured cognitive and psychomotor outcomes in 5 and 6 year old Caucasian PGD singletons. In addition, Sacks and colleagues reported on neuropsychological findings of a pilot study of 4 and 5 year old PGD children [64, 65]

Acknowledgment I would like to thank Jason LaBonte for helpful suggestions on an earlier draft of this manuscript.

Conflict of Interest The author declares no confl ict of interest.

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  1. Department of the History of Science, Harvard University, Cambridge, MA, USA

    Michelle Lynne LaBonte

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Correspondence to Michelle Lynne LaBonte .

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  1. Center for Advanced Genetics, Reproductive Research Section, Carlsbad, California, USA

    E Scott Sills

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LaBonte, M.L. (2015). Elements of Informed Consent for Preimplantation Genetic Diagnosis. In: Sills, E. (eds) Screening the Single Euploid Embryo. Springer, Cham. https://doi.org/10.1007/978-3-319-16892-0_2

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  • DOI: https://doi.org/10.1007/978-3-319-16892-0_2

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