Assessing the necessity of screening ≤ 5 Mb segmental aneuploidy in routine preimplantation genetic testing for aneuploidy
Reproductive BioMedicine Online(2024)
摘要
Research Question
Does routine clinical practice require an increase in the resolution of preimplantation genetic testing for aneuploidy (PGT-A) to detect segmental aneuploidies (SAs) ≤ 5 Mb?
Design
This retrospective study analyzed 963 trophectoderm (TE) biopsies from 346 couples undergoing PGT between 2019 and 2023. SAs ≥ 1 Mb were reported. Characteristics, clinical interpretation and concordance of ≤ 5 Mb SAs were analyzed.
Results
The incidence of SAs was 15.1% (145/963) in blastocysts, with SAs of 5 Mb or smaller accounting for 2.3% (22/963). The size of SAs showed a skew distribution. For SAs ≤ 5 Mb, they were found to occur more frequently on the q arm of the chromosome, compared to the p arm. Losses of ≤ 5 Mb SAs were more prevalent than gains, with 17 deletions compared to 5 duplications, respectively. 63.6% (14/22) ≤ 5 Mb SAs were of de novo and 50.0% (7/14) de novo SAs were pathogenic/likely pathogenic (P/LP) CNVs, accounting for 0.7% of 963 blastocysts. For these blastocysts carrying ≤ 5 Mb SAs, reanalysis of backup biopsy samples showed that 35.7% of de novo SAs (5/14) were not detected in the backup samples. Cases were reported that prenatal diagnosis (amniocentesis) revealed the absence of the embryonic ≤ 5 Mb SA detected at blastocyst stage.
Conclusions
The incidence of P/LP de novo ≤ 5 Mb SAs in human blastocysts is extremely low. There is no compelling need to increase the resolution of PGT-A to 5 Mb in routine clinical practice.
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关键词
aneuploidy,segmental aneuploidy,chromosome abnormalities,preimplantation genetic testing,resolution
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