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Current and Novel Methods for Chromosome Testing

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In Vitro Fertilization

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Abstract

More than 50% cleavage and blastocyst stage embryos produced in-vitro are found to be chromosomally abnormal, increasing up to 80% in women over 42 years of age. While some abnormal embryos arrest during culture, most do not. Embryos with numerical chromosomal abnormalities are usually not compatible with either implantation or birth, with and up to 70% of spontaneous abortions are chromosomally abnormal, clearly highlighting the detrimental effects of aneuploidy. Thus, we hypothesized that the selection of normal (euploid) embryos for transfer should improve the success rate of IVF. This process of selection against aneuploidy is known as preimplantation genetic diagnosis (PGD) of aneuploidy (PGD-A) or preimplantation genetic screening (PGS).

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Author information

Authors and Affiliations

  1. MedAnswers, University of Kent, Canterbury, UK

    Sarthak Sawarkar

  2. CooperGenomics, a Cooper Surgical Company, School of Biosciences, University of Kent, Canterbury, UK

    Santiago Munné

Authors
  1. Sarthak Sawarkar
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  2. Santiago Munné
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Corresponding author

Correspondence to Sarthak Sawarkar .

Editor information

Editors and Affiliations

  1. Reproductive Biology Associates – Prelude, Atlanta, GA, USA

    Zsolt Peter Nagy

  2. Astra Fertility Group, Mississauga, ON, Canada

    Alex C. Varghese

  3. Cleveland Clinic, Cleveland, OH, USA

    Ashok Agarwal

Review Questions

Review Questions

  1. 1.

    More than ____ in vitro embryos are found to be chromosomally abnormal.

    1. A.

      10%

    2. B.

      25%

    3. C.

      50%

    4. D.

      35%

  1. 2.

    Embryos from which of the developmental stages may be used in obtaining biological material for genetic testing of embryos?

    1. A.

      Polar body biopsy

    2. B.

      Blastocyst biopsy

    3. C.

      Blastomere biopsy

    4. D.

      All of the above

  1. 3.

    Multiplexing of a large number of samples is possible in next-generation sequencing. This is possible due to

    1. A.

      Addition of barcodes, 6–10 bp unique oligonucleotides

    2. B.

      High number of reads possible during a sequencing run

    3. C.

      Blastocyst biopsy samples being used for NGS compared to polar body or blastomere biopsy samples

    4. D.

      None of the above

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Sawarkar, S., Munné, S. (2019). Current and Novel Methods for Chromosome Testing. In: Nagy, Z., Varghese, A., Agarwal, A. (eds) In Vitro Fertilization. Springer, Cham. https://doi.org/10.1007/978-3-319-43011-9_49

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