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Recent advances in preimplantation genetic diagnosis and screening

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Abstract

Preimplantation genetic diagnosis/screening (PGD/PGS) aims to help couples lower the risks of transmitting genetic defects to their offspring, implantation failure, and/or miscarriage during in vitro fertilization (IVF) cycles. However, it is still being debated with regard to the practicality and diagnostic accuracy of PGD/PGS due to the concern of invasive biopsy and the potential mosaicism of embryos. Recently, several non-invasive and high-throughput assays have been developed to help overcome the challenges encountered in the conventional invasive biopsy and low-throughput analysis in PGD/PGS. In this mini-review, we will summarize the recent progresses of these new methods for PGD/PGS and discuss their potential applications in IVF clinics.

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    Authors and Affiliations

    1. Translational Center for Stem Cell Research, Tongji Hospital, Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, 200065, China

      Lina Lu, Bo Lv & Zhigang Xue

    2. School of Life Sciences and Technology, Advanced Institute of Translational Medicine, Tongji University, 1239 Siping Road, Shanghai, 200092, China

      Lina Lu, Xianmin Zhu & Guoping Fan

    3. Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA

      Kevin Huang & Guoping Fan

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    1. Lina Lu
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    2. Bo Lv
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    3. Kevin Huang
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    4. Zhigang Xue
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    5. Xianmin Zhu
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    6. Guoping Fan
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    Correspondence to Guoping Fan.

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    PGD/PGS has become a routine clinical procedure in many IVF clinics worldwide. New techniques have been quickly adopted as embryo selection strategies in hopes of improving live birth outcomes in human ARTs.

    Lina Lu and Bo Lv contributed equally to this work.

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    Lu, L., Lv, B., Huang, K. et al. Recent advances in preimplantation genetic diagnosis and screening. J Assist Reprod Genet 33, 1129–1134 (2016). https://doi.org/10.1007/s10815-016-0750-0

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