Recent advances in preimplantation genetic diagnosis and screening

被引：30
作者：
Lu, Lina [1 ,2 ]
Lv, Bo [1 ]
Huang, Kevin [3 ]
Xue, Zhigang [1 ]
Zhu, Xianmin [2 ]
Fan, Guoping [2 ,3 ]
机构：
[1] Tongji Univ, Sch Med, Dept Regenerat Med, Translat Ctr Stem Cell Res,Tongji Hosp, Shanghai 200065, Peoples R China
[2] Tongji Univ, Adv Inst Translat Med, Sch Life Sci & Technol, 1239 Siping Rd, Shanghai 200092, Peoples R China
[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
来源：
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | 2016年 / 33卷 / 09期
关键词：
Preimplantation genetic diagnosis (PGD); Preimplantation genetic screening (PGS); In vitro fertilization (IVF); Embryo biopsy; Non-invasive testing; COMPARATIVE GENOMIC HYBRIDIZATION; POLYMERASE-CHAIN-REACTION; CELL RNA-SEQ; CLEAVAGE-STAGE EMBRYOS; SINGLE-CELL; 24-CHROMOSOME ANEUPLOIDY; HUMAN BLASTOCYSTS; BLASTOCOELE FLUID; LIVE BIRTH; REAL-TIME;
D O I：
10.1007/s10815-016-0750-0
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：1129 / 1134
页数：6
相关论文
共 91 条
[1]   First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis [J].
Alfarawati, S. ;
Fragouli, E. ;
Colls, P. ;
Wells, D. .
HUMAN REPRODUCTION, 2011, 26 (06) :1560-1574
[2]   Non-invasive pre-implantation genetic diagnosis of X-linked disorders [J].
Assou, Said ;
Ait-Ahmed, Ounissa ;
El Messaoudi, Safia ;
Thierry, Alain R. ;
Hamamah, Samir .
MEDICAL HYPOTHESES, 2014, 83 (04) :506-508
[3]  
Blakeley P, 2015, DEVELOPMENT, V142, P3151, DOI [10.1242/dev.123547, 10.1242/dev.131235]
[4]   Clinical applications of preimplantation genetic testing [J].
Brezina, Paul R. ;
Kutteh, William H. .
BMJ-BRITISH MEDICAL JOURNAL, 2015, 350
[5]   The Evolving Role of Genetics in Reproductive Medicine [J].
Brezina, Paul R. ;
Kearns, William G. .
OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA, 2014, 41 (01) :41-+
[6]   At home testing: optimizing management for the infertility physician [J].
Brezina, Paul R. ;
Haberl, Elisabeth ;
Wallach, Edward .
FERTILITY AND STERILITY, 2011, 95 (06) :1867-1878
[7]   FISH reanalysis of inner cell mass and trophectoderm samples of previously array-CGH screened blastocysts shows high accuracy of diagnosis and no major diagnostic impact of mosaicism at the blastocyst stage [J].
Capalbo, Antonio ;
Wright, Graham ;
Elliott, Thomas ;
Ubaldi, Filippo Maria ;
Rienzi, Laura ;
Nagy, Zsolt Peter .
HUMAN REPRODUCTION, 2013, 28 (08) :2298-2307
[8]   Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development [J].
Capalbo, Antonio ;
Bono, Sara ;
Spizzichino, Letizia ;
Biricik, Anil ;
Baldi, Marina ;
Colamaria, Silvia ;
Ubaldi, Filippo Maria ;
Rienzi, Laura ;
Fiorentino, Francesco .
HUMAN REPRODUCTION, 2013, 28 (02) :509-518
[9]   Morphokinetic analysis of cleavage stage embryos and its relationship to aneuploidy in a retrospective time-lapse imaging study [J].
Chawla, Monika ;
Fakih, Michael ;
Shunnar, Amal ;
Bayram, Asina ;
Hellani, Ali ;
Perumal, Vanamail ;
Divakaran, Jayprakash ;
Budak, Erdal .
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2015, 32 (01) :69-75
[10]   Embryonic DNA sampling without biopsy: the beginnings of non-invasive PGD? [J].
Cohen, Jacques ;
Grudzinskas, Gedis ;
Johnson, Martin H. .
REPRODUCTIVE BIOMEDICINE ONLINE, 2013, 26 (06) :520-521
12345678910