Dataset Information

Concordance between different trophectoderm biopsy sites and the inner cell mass of chromosomal composition measured with a next-generation sequencing platform.

ABSTRACT:

Study question

In PGS, does chromosomal constitution differ among trophectoderm (TE) biopsy sites and between them and the inner cell mass (ICM)?

Summary answer

The ploidy concordance between ICM and TE was independent of whether the biopsy site in the TE was near to or far from the ICM.

What is known already

TE biopsies are considered less harmful to developing embryos than blastomere biopsies. Removal of multi-cellular samples permits high-resolution next-generation sequencing (Veriseq NGS) to detect aneuploidy present in a minority of cells (mosaicism of diploid and aneuploid cells). However, the prevalence of ploidy discrepancies between different TE biopsy sites and the ICM, as well as confined mosaicism (aneuploidy only in a particular area), has not been established.

Study design, size, duration

Biopsies were taken from a site opposite to the ICM (TE1), near the ICM (TE2) and within the ICM of the same embryo in 33 donated blastocysts obtained from 12 volunteer patients. The samples were analyzed by the Veriseq NGS to assess ploidy concordance.

Participants/materials, setting, methods

The mean age of the patients was 34.4 years, and samples from all three biopsy sites were achieved in 29 frozen thawed blastocysts. The aneuploid percentage in each sample was interpreted by Veriseq NGS at the finest resolution involving the number of reads after filtering, sample overall noise score, and average quality/alignment scores according to the Veriseq quality control assessment. Ploidy concordance was then assessed between different TE fractions, and between the TE and ICM.

Main results and the role of chance

The euploid rates were similar in the TEs and ICM, and no preferential allocation of euploid lineage within a blastocyst was demonstrated. Whether the biopsy site in the TE was near to or far from the ICM, the chromosomal consistency rate was similar [TE1-to-ICM, 86.2% (25/29) versus TE2-to-ICM, 89.7% (26/29); P = 1.0], suggesting that the cells with different chromosomal components may spread randomly throughout the TE. The following two types of inconsistent PGS conclusions between TE and ICM due to confined mosaicism were observed: (i) euploid TE with mosaic ICM (3%) (1/29); and (ii) mosaic TE with euploid ICM (3%) (1/29) or with aneuploid ICM (7%) (2/29). Thus, the overall rate of confined mosaicism was 14% (4/29).

Large scale data

N/A.

Limitation, reasons for caution

The approach used in the present study was affected by biopsy manipulation limitations involving possible cell contamination and the technical challenge of comprehensive chromosomal screening (CCS) procedures.

Wider implications of the findings

The rate of confined mosaicism in the blastocysts was estimated in this preliminary study, thus, specifying the incidence of biological sampling biases. The results also verified the random distribution of different cell lineages, and the representative value of a single biopsied sample from the TE.

Study funding and conflict of interest(s)

No external funding was obtained; all the authors declare no conflicts of interest regarding this study.

SUBMITTER: Chuang TH

PROVIDER: S-EPMC6262631 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Publications

Concordance between different trophectoderm biopsy sites and the inner cell mass of chromosomal composition measured with a next-generation sequencing platform.

Chuang Tzu-Hsuan TH Hsieh Jhih-Yuan JY Lee Meng-Ju MJ Lai Hsing-Hua HH Hsieh Chia-Lin CL Wang Huai-Lin HL Chang Yu-Jen YJ Chen Shee-Uan SU

Molecular human reproduction 20181201 12

<h4>Study question</h4>In PGS, does chromosomal constitution differ among trophectoderm (TE) biopsy sites and between them and the inner cell mass (ICM)?<h4>Summary answer</h4>The ploidy concordance between ICM and TE was independent of whether the biopsy site in the TE was near to or far from the ICM.<h4>What is known already</h4>TE biopsies are considered less harmful to developing embryos than blastomere biopsies. Removal of multi-cellular samples permits high-resolution next-generation seque ...[more]

PMID: 30371814

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Dataset Information

Concordance between different trophectoderm biopsy sites and the inner cell mass of chromosomal composition measured with a next-generation sequencing platform.

Study question

Summary answer

What is known already

Study design, size, duration

Participants/materials, setting, methods

Main results and the role of chance

Large scale data

Limitation, reasons for caution

Wider implications of the findings

Study funding and conflict of interest(s)

Publications

Concordance between different trophectoderm biopsy sites and the inner cell mass of chromosomal composition measured with a next-generation sequencing platform.

Similar Datasets

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