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Preimplantation Genetic Testing for Inherited Heart Diseases

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Abstract

Purpose of Review

Preimplantation genetic testing for monogenic conditions (PGT-M) is an increasingly utilized reproductive technology for patients with inherited heart disease (IHD). In this article, we provide an overview of the PGT-M process, including current guidance about its use, and review recent data about the perspectives and experiences of patients considering the use of PGT-M.

Recent Findings

PGT-M is used for a variety of IHDs; however, there is evidence that providers do not consistently raise this topic with patients, which may be due to a lack of knowledge about PGT-M. Regardless of the condition, patients report similar motivations for using PGT-M, such as the desire for a healthy child and the wish to save offspring from suffering. Patients make individualized decisions that are influenced by their lived experience with the diagnosis, a sense of responsibility to prevent disease transmission and other personal and logistical considerations. The PGT-M process can be challenging and each patient requires comprehensive information and support throughout.

Summary

PGT-M is a complex multi-step process whereby individual decision-making is influenced by various intrinsic and extrinsic factors. Adequate information and support are necessary for individual decision-making and expectation-setting. This is best accomplished by a multidisciplinary collaboration including cardiology, genetics, reproductive endocrinologists, and obstetric providers.

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Abbreviations

ART:

Assisted reproductive technology

CV:

Cardiovascular

GC:

Genetic counseling

GT:

Genetic testing

IHD:

Inherited heart disease

IVF:

In vitro fertilization

PGT:

Preimplantation genetic testing

PGT-A:

PGT for aneuploidy

PGT-SR:

PGT for structural rearrangements

PGT-M:

PGT for monogenic disorders

SCD:

Sudden cardiac death

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Author information

Authors and Affiliations

  1. Cardiovascular Division, Brigham and Women’s Hospital, Boston, MA, USA

    Chelsea Stevens & Allison L Cirino

  2. Center for Cardiovascular Genetics, Boston Children’s Hospital, Boston, MA, USA

    Robyn Hylind

  3. Center for Fetal Medicine and Reproductive Genetics, Brigham and Women’s Hospital, Boston, MA, USA

    Sophie Adams

  4. Genetic Counseling Program, MGH Institute of Health Professions, Boston, MA, USA

    Allison L Cirino

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Correspondence to Allison L Cirino.

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Chelsea Stevens declares that she has no conflict of interest related to this work.

Robyn Hylind that she has no conflict of interest related to this work.

Sophie Adams declares she has no conflicts of interest related to this work.

Allison Cirino that she has no conflict of interest related to this work.

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Stevens, C., Hylind, R., Adams, S. et al. Preimplantation Genetic Testing for Inherited Heart Diseases. Curr Cardiovasc Risk Rep 17, 195–203 (2023). https://doi.org/10.1007/s12170-023-00727-0

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