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J Assist Reprod Genet. 2016 Sep;33(9):1129-34. doi: 10.1007/s10815-016-0750-0. Epub 2016 Jun 7.

Recent advances in preimplantation genetic diagnosis and screening.

Lu L1,2, Lv B1, Huang K3, Xue Z1, Zhu X2, Fan G4,5.

Author information

1
Translational Center for Stem Cell Research, Tongji Hospital, Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, 200065, China.
2
School of Life Sciences and Technology, Advanced Institute of Translational Medicine, Tongji University, 1239 Siping Road, Shanghai, 200092, China.
3
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
4
School of Life Sciences and Technology, Advanced Institute of Translational Medicine, Tongji University, 1239 Siping Road, Shanghai, 200092, China. eicjarg@gmail.com.
5
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA. eicjarg@gmail.com.

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.

KEYWORDS:

Embryo biopsy; In vitro fertilization (IVF); Non-invasive testing; Preimplantation genetic diagnosis (PGD); Preimplantation genetic screening (PGS)

PMID:
27272212
PMCID:
PMC5010808
DOI:
10.1007/s10815-016-0750-0
[Indexed for MEDLINE]
Free PMC Article

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