Preimplantation Genetic Testing for Inherited Predisposition to Cardiac Disease

Abstract

Cardiac disease, which is a common condition with genetic predisposition, has become a relatively frequent indication for preimplantation genetic testing (PGT), performed in the last dozen years to provide an option for couplers at risk to avoid the birth of an offspring without predisposition to cardiac disease. We present here our experience of 109 PGT cycles for cardiac disease, resulting in birth of 54 mutation free children, which is a part of our overall PGT series of 6204 PGT cycles for monogenic disorders (PGT-M), with 2,517 resulting births, free of genetic disorders. The accumulated experience, presented below, demonstrates considerable progress in using PGT for avoiding the birth of children with genetic predisposition to cardiac disease.

Reproductive decision‐making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease

“…PGT‐M is being utilized by individuals with inherited cardiac disease, including IAVDs (Kuliev et al, 2021 and prior research has explored the experiences of people with primary inherited cardiomyopathies and inherited arrhythmia syndromes considering PGT‐M (Yeates et al, 2022). This study identified factors such as personal experience with disease, a sense of responsibility for other generations, and finances as important to couples' decision‐making.…”