F&S reports · 2026
Simultaneous trophectoderm biopsies enable preimplantation genetic testing for monogenic disorders in de novo case of incontinentia pigmenti: case report.
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Gemmell Laura C, Galloway Stephanie, Rembisz Katie, Snider Alyssa, Nassab Paulina, Sanz Ana Cristina Cervero, Wolfkamp Mikaela, Koustas Georgios, Karipcin Sinem
Аннотация
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: A 29-year-old nulligravid woman with de novo IP, confirmed to have the common, large deletion of exons 4-10 in the IKBKG 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: PGT-M test development and subsequent intracytoplasmic sperm injection/PGT-M cycle targeting the IKBKG deletion.
RESULTS: PGT-M test development was successful. The patient underwent two antagonist stimulation protocols with intracytoplasmic sperm injection and PGT-M, yielding 10 euploid embryos that tested negative for the IKBKG deletion and were deemed suitable for transfer.
CONCLUSIONS: PGT-M for de novo IP is particularly challenging given the presence of the IKBKGP1 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.
DESIGN: Case report.
SUBJECT: A 29-year-old nulligravid woman with de novo IP, confirmed to have the common, large deletion of exons 4-10 in the IKBKG 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: PGT-M test development and subsequent intracytoplasmic sperm injection/PGT-M cycle targeting the IKBKG deletion.
RESULTS: PGT-M test development was successful. The patient underwent two antagonist stimulation protocols with intracytoplasmic sperm injection and PGT-M, yielding 10 euploid embryos that tested negative for the IKBKG deletion and were deemed suitable for transfer.
CONCLUSIONS: PGT-M for de novo IP is particularly challenging given the presence of the IKBKGP1 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.