Simultaneous trophectoderm biopsies enable preimplantation genetic testing for monogenic disorders in de novo case of incontinentia pigmenti: case report.
Simultaneous trophectoderm biopsies may enable preimplantation genetic testing in challenging cases of de novo incontinentia pigmenti, but further research is needed to confirm these findings.
Where it sits
this study against the rest of the hmg (human menopausal gonadotropin) corpusSummary and findings
This case report describes the use of two simultaneous trophectoderm biopsies for preimplantation genetic testing for monogenic disorders in a 29-year-old woman with de novo incontinentia pigmenti. The procedure resulted in the successful development of a PGT-M test and the generation of 10 euploid embryos that tested negative for the IKBKG deletion. No therapeutic claims are made.
Abstract
<h4>Objective</h4>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).<h4>Design</h4>Case report.<h4>Subject</h4>A 29-year-old nulligravid woman with de novo IP, confirmed to have the common, large deletion of exons 4-10 in the <i>IKBKG</i> gene. Negative maternal testing confirmed the mutation was de novo in our patient.<h4>Exposure</h4>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.<h4>Main outcome measures</h4>PGT-M test development and subsequent intracytoplasmic sperm injection/PGT-M cycle targeting the <i>IKBKG</i> deletion.<h4>Results</h4>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 <i>IKBKG</i> deletion and were deemed suitable for transfer.<h4>Conclusions</h4>PGT-M for de novo IP is particularly challenging given the presence of the <i>IKBKGP1</i> 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.
Background
Not reported in abstract.
Methods
Not reported in abstract.
Results
Not reported in abstract.
Interpretation
Not reported in abstract.
Limitations
Not reported in abstract.