Preimplantation genetic testing for cardiomyopathies: a case series illustrating the clinical and technological perspective

Preimplantation genetic testing (PGT) is increasingly used in patients with inherited cardiac disease. Technological advances have expanded its applicability, yet the process remains highly individualized and complex.

We present a case series of four patients undergoing PGT for various cardiogenetic disorders. The cases illustrate technical developments evolving from polymerase chain reaction (PCR) to whole genome sequencing (WGS). Each case highlights distinct aspects of the PGT process to illustrate the steps: (i) the variability in disease penetrance, (ii) the clinical decision-making process, (iii) the duration and timeline of the trajectory, and (iv) the sequencing methodology.

These cases emphasize the importance of selecting patients who will benefit the greatest risk reduction from PGT, reflecting the significance of individual assessment per couple. Additionally, clinicians should be aware and discuss the possibility of PGT with eligible patients consistently to ensure a comprehensive understanding of their reproductive options.