Simultaneous trophectoderm biopsies enable preimplantation genetic testing for monogenic disorders in de novo case of incontinentia pigmenti: case report

Objective: To describe the use of two simultaneous trophectoderm biopsies as a method to establish linkage analysis for preimplantation genetic testing for monogenic disorders (PGT-M) test development in a case of de novo incontinentia pigmenti (IP). Design: Case report. Subject: gene. Negative maternal testing confirmed the mutation was de novo in our patient. Exposure: Two simultaneous trophectoderm biopsies from a minimum of four embryos were obtained to enable two independent deoxyribonucleic acid preparations. This approach was utilized to complete linkage analysis, facilitating successful test development for PGT-M. Main Outcome Measures: deletion. Results: deletion and were deemed suitable for transfer. Conclusions: pseudogene, its terminal location, and the fact that indirect linkage analysis is necessary for large gene deletions. Without genetic information from parents and offspring, PGT-M test development is frequently unsuccessful. This case demonstrates that simultaneous trophectoderm biopsies can enable PGT-M in otherwise ineligible cases, offering a viable path forward for patients affected by de novo IP.