Recent advances in preimplantation genetic diagnosis and screening.
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.
Translational Center for Stem Cell Research, Tongji Hospital, Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, 200065, China.|School of Life Sciences and Technology, Advanced Institute of Translational Medicine, Tongji University, 1239 Siping Road, Shanghai, 200092, China.
Lina
L
Lu
Translational Center for Stem Cell Research, Tongji Hospital, Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, 200065, China.
Bo
B
Lv
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA.
Kevin
K
Huang
Translational Center for Stem Cell Research, Tongji Hospital, Department of Regenerative Medicine, Tongji University School of Medicine, Shanghai, 200065, China.
Zhigang
Z
Xue
School of Life Sciences and Technology, Advanced Institute of Translational Medicine, Tongji University, 1239 Siping Road, Shanghai, 200092, China.
Xianmin
X
Zhu
School of Life Sciences and Technology, Advanced Institute of Translational Medicine, Tongji University, 1239 Siping Road, Shanghai, 200092, China. eicjarg@gmail.com.|Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, 90095, USA. eicjarg@gmail.com.
Guoping
G
Fan
D000022:Abortion, Spontaneous / Q000235:genetics* / Q000503:physiopathology; D000782:Aneuploidy; D055028:Comparative Genomic Hybridization; D004624:Embryo Transfer; D005260:Female; D005307:Fertilization in Vitro / Q000009:adverse effects / Q000639:trends*; D005820:Genetic Testing / Q000379:methods* / Q000639:trends; D006801:Humans; D011247:Pregnancy; D019836:Preimplantation Diagnosis / Q000379:methods* / Q000639:trends
Embryo biopsy; In vitro fertilization (IVF); Non-invasive testing; Preimplantation genetic diagnosis (PGD); Preimplantation genetic screening (PGS)