Karyotype of the blastocoel fluid demonstrates low concordance with both trophectoderm and inner cell mass

Blastocele fluid displays high levels of mosaicism and has low karyotype concordance with the embryo inner cell mass and trophectoderm, making it unsuitable for diagnostic purposes.

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Volume 109, Issue 6, Pages 1127–1134.e1

Authors:

Olga Tšuiko, M.Sc., Daria I. Zhigalina, M.Sc., Tatjana Jatsenko, M.Sc., Nikolay A. Skryabin, Ph.D., Olga R. Kanbekova, M.D., Victoria G. Artyukhova, M.Sc., Anatoly V. Svetlakov, Ph.D., Katre Teearu, M.Sc., Aleksander Trošin, M.D., Andres Salumets, Ph.D., Ants Kurg, Ph.D., Igor N. Lebedev, Ph.D.

Abstract:

Objective

To compare the genomic profiles of blastocoel fluid (BF), inner cell mass (ICM), and trophectoderm (TE) cells derived from the same blastocyst.

Design

Prospective study.

Setting

Academic and in vitro fertilization units.

Patient(s)

Sixteen donated cryopreserved embryos at blastocyst stage.

Intervention(s)

BF, TE, and ICM cells were retrieved from each blastocyst for chromosome analysis by means of next-generation sequencing (NGS).

Main Outcome Measure(s)

Aneuploidy screening and assessment of mosaicism in BF, TE and ICM samples with subsequent comparison of genomic profiles between the three blastocyst compartments.

Result(s)

Out of 16 blastocysts, 10 BF samples and 14 TE and ICM samples provided reliable NGS data for comprehensive chromosome analysis. Only 40.0% of BF-DNA karyotypes were fully concordant with TE or ICM, compared with 85.7% concordance between TE and ICM. In addition, BF-DNA was burdened with mosaic aneuploidies and the total number of affected chromosomes in BF was significantly higher compared with the TE and ICM.

Conclusion(s)

BF-DNA can be successfully amplified and subjected to NGS, but owing to increased discordance with ICM and TE, BF does not adequately represent the status of the rest of the embryo. To overcome biologic and technical challenges associated with BF sampling and processing, blastocentesis would require improvement in both laboratory protocols and aneuploidy calling algorithms. Therefore, TE biopsy remains the most effective way to predict embryonic karyotype, and the use of BF as a single source of DNA for preimplantation genetic screening is not yet advised.


Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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