Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Reproduction : the Official Journal of the Society for the Study of Fertility
Baoheng GuiLingqian Wu

Abstract

Balanced chromosomal rearrangements (CRs) are among the most common genetic abnormalities in humans. In the present study, we have investigated the degree of consistency between the chromosomal composition of the blastocyst inner cell mass (ICM) and trophectoderm (TE) in carriers with balanced CR, which has not been previously addressed. As a secondary aim, we have also evaluated the validity of cleavage-stage preimplantation genetic diagnosis (PGD) based on fluorescence in situ hybridization (FISH) of blastocysts from CR carriers. Blastocyst ICM and TE were screened for chromosomal aneuploidy and imbalance of CR-associated chromosomes based on whole-genome copy number variation analysis by low-coverage next-generation sequencing (NGS) following single-cell whole-genome amplification by multiple annealing and looping-based amplification cycling. The NGS results were analyzed without knowledge of cleavage-stage FISH results. NGS results for blastocyst ICM and TE from CR carriers were 86.49% (32/37) consistent. Of the 1702 (37 × 46) chromosomes examined, 99.47% (1693/1702) showed consistency. However, only 40.0% (18/45) of all embryos had consistent results for chromosomes involved in CR, as determined by blastocyst NGS and cleav...Continue Reading

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Citations

Oct 5, 2017·Proceedings of the National Academy of Sciences of the United States of America·Jiawei XuYingpu Sun
Feb 6, 2017·Human Reproduction·Eftychia DimitriadouJoris Robert Vermeesch
Oct 30, 2016·Proceedings of the National Academy of Sciences of the United States of America·Juanjuan XuSijia Lu

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