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Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst

Victor, Andrea R., Griffin, Darren K., Brake, Alan J, Tyndall, Jack C, Murphy, Alex E, Lepkowsky, Laura T, Lal, Archana, Zouves, Christo G, Barnes, Frank L, McCoy, Rajiv C, and others. (2019) Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst. Human Reproduction, 34 (1). pp. 181-192. ISSN 0268-1161. (doi:10.1093/humrep/dey327) (KAR id:72159)

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Abstract

STUDY QUESTION

In the analyzed group of blastocysts, a clinical TE biopsy was an excellent representative of blastocyst karyotype in cases of whole chromosome aneuploidy, but in cases of only segmental (sub-chromosomal) aneuploidy, a TE biopsy was a poor representative of blastocyst karyotype.

WHAT IS KNOWN ALREADY

For this study, 45 patients donated 100 blastocysts classified as uniform aneuploids (non-mosaic) using PGT-A by NGS (n = 93 whole chromosome aneuploids, n = 7 segmental aneuploids). In addition to the original clinical TE biopsy used for PGT-A, each blastocyst was subjected to an ICM biopsy as well as a second TE biopsy. All biopsies were processed for chromosomal analysis by NGS, and karyotypes were compared to the original TE biopsy.

PARTICIPANTS/MATERIALS, SETTING, METHODS

When one or more whole chromosomes were aneuploid in the clinical TE biopsy, the corresponding ICM was aneuploid in 90 out of 93 blastocysts (96.8%). When the clinical TE biopsy contained only segmental (sub-chromosomal) aneuploidies, the ICM was aneuploid in three out of seven cases (42.9%). Blastocysts showing aneuploidy concordance between clinical TE biopsy and ICM were also aneuploid in a second TE biopsy in 86 out of 88 cases (97.7%). In blastocysts displaying clinical TE–ICM discordance, a second TE biopsy was aneuploid in only two out of six cases (33.3%).

LIMITATIONS, REASONS FOR CAUTION

The high rate of intra-blastocyst concordance observed in this study concerning whole chromosome aneuploidy contributes experimental evidence to the validation of PGT-A at the blastocyst stage. Concomitantly, the results suggest potential clinical value in reassessing blastocysts deemed aneuploid by TE re-biopsy in select cases, particularly in instances of segmental aneuploidies. This could impact infertility treatment for patients who only have blastocysts classified as aneuploid by PGT-A available.

STUDY FUNDING/COMPETING INTEREST(S)

This study was supported by the Zouves Foundation for Reproductive Medicine and Zouves Fertility Center. The authors have no competing interest to disclose.

Item Type: Article
DOI/Identification number: 10.1093/humrep/dey327
Uncontrolled keywords: aneuploidy, concordance, blastocyst, PGT-A, mosaic, karyotype determination procedure, biopsy, aneuploidy, embryo stage 3, chromosomes, embryo, mosaicism, massively-parallel genome sequencing
Divisions: Faculties > Sciences > School of Biosciences
Depositing User: Darren Griffin
Date Deposited: 05 Feb 2019 09:59 UTC
Last Modified: 23 Jan 2020 04:15 UTC
Resource URI: https://kar.kent.ac.uk/id/eprint/72159 (The current URI for this page, for reference purposes)
Griffin, Darren K.: https://orcid.org/0000-0001-7595-3226
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