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Complex chromosomal rearrangement—a lesson learned from PGS

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring.

Methods

A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes, approached our IVF-PGD center following eight early spontaneous miscarriages. PGS using chromosomal microarray analysis (CMA) was performed on biopsied trophectoderm. Fluorescence in situ hybridization (FISH), as well as re-karyotype, were performed on metaphase derived from peripheral blood of the couple. Subsequently, in the following PGD cycle, a total of seven blastocysts underwent CMA.

Results

A gain or loss at three chromosomes (3, 7, 9) was identified in six out of seven embryos in the first PGS-CMA cycle. FISH analysis of parental peripheral blood samples demonstrated that the male is a carrier of a CCR involving those chromosomes; this was in spite of a former diagnosis of normal karyotypes for both parents. Re-karyotype verified the complex translocation of 46,XY,t (3;7;9)(q23;q22;q22). Subsequently, in the following cycle, a total of seven blastocysts underwent PGD-CMA for the identified complex translocation. Two embryos were diagnosed with balanced chromosomal constitution. A single balanced embryo was transferred and pregnancy was achieved, resulting in the birth of a healthy female baby.

Conclusions

PGS employing CMA is an efficient method to detect unrevealed chromosomal abnormalities, including complicated cases of CCR. The combined application of array CGH and FISH technologies enables the identification of an increased number of CCR carriers for which PGD is particularly beneficial.

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Authors and Affiliations

  1. Wolf PGD Stem Cell Lab, Racine IVF Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

    Tsvia Frumkin, Sagit Peleg, Veronica Gold, Adi Reches, Shiri Asaf, Foad Azem, Dalit Ben-Yosef & Mira Malcov

  2. Genetic Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    Adi Reches

  3. Department of Cell and Developmental Biology, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel

    Dalit Ben-Yosef

  4. Lis Maternity Hospital, 6 Weizman Street, 6423906, Tel Aviv, Israel

    Dalit Ben-Yosef

Authors
  1. Tsvia Frumkin
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  2. Sagit Peleg
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  3. Veronica Gold
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  4. Adi Reches
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  5. Shiri Asaf
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  6. Foad Azem
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  7. Dalit Ben-Yosef
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  8. Mira Malcov
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Corresponding author

Correspondence to Dalit Ben-Yosef.

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Frumkin, T., Peleg, S., Gold, V. et al. Complex chromosomal rearrangement—a lesson learned from PGS. J Assist Reprod Genet 34, 1095–1100 (2017). https://doi.org/10.1007/s10815-017-0954-y

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  • DOI: https://doi.org/10.1007/s10815-017-0954-y

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