Current Applications and Controversies in Preimplantation Genetic Testing for Aneuploidies (PGT-A) in In Vitro Fertilization

Morales, Carmen

doi:10.1007/s43032-023-01301-0

Cited by 7 publications

(1 citation statement)

References 119 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Increasing the live birth rate and decreasing the miscarriage rate through in vitro fertilisation (IVF) treatment is a critical focus of reproductive medicine, specifically in combination with advanced maternal age [ 1 ]. A study showed that in women of advanced age (between 38 and 41 years), more than three quarters of the embryos produced by IVF were aneuploid, resulting in implantation failure and miscarriage [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing

Madritsch,

Arnold,

Haider

et al. 2024

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose Various screening techniques have been developed for preimplantation genetic testing for aneuploidy (PGT-A) to reduce implantation failure and miscarriages in women undergoing in vitro fertilisation (IVF) treatment. Among these methods, the Oxford nanopore technology (ONT) has already been tested in several tissues. However, no studies have applied ONT to polar bodies, a cellular material that is less restrictively regulated for PGT-A in some countries. Methods We performed rapid short nanopore sequencing on pooled first and second polar bodies of 102 oocytes from women undergoing IVF treatment to screen for aneuploidy. An automated analysis pipeline was developed with the expectation of three chromatids per chromosome. The results were compared to those obtained by array-based comparative genomic hybridisation (aCGH). Results ONT and aCGH were consistent for 96% (98/102) of sample ploidy classification. Of those samples, 36 were classified as euploid, while 62 were classified as aneuploid. The four discordant samples were assessed as euploid using aCGH but classified as aneuploid using ONT. The concordance of the ploidy classification (euploid, gain, or loss) per chromosome was 92.5% (2169 of 2346 of analysed chromosomes) using aCGH and ONT and increased to 97.7% (2113/2162) without the eight samples assessed as highly complex aneuploid using ONT. Conclusion The automated detection of the ploidy classification per chromosome and shorter duplications or deletions depending on the sequencing depth demonstrates an advantage of the ONT method over standard, commercial aCGH methods, which do not consider the presence of three chromatids in pooled polar bodies.

show abstract

Section: Introductionmentioning

confidence: 99%