Chromosomal integrity of human preimplantation embryos at different days post fertilization

被引:16
作者
Dekel-Naftali, Michal [1 ,2 ,4 ]
Aviram-Goldring, Ayala [1 ,2 ]
Litmanovitch, Talia [2 ]
Shamash, Jana [1 ,2 ]
Yonath, Hagith [2 ]
Hourvitz, Ariel [3 ]
Yung, Yuval [3 ]
Brengauz, Masha [3 ]
Schiff, Eyal [3 ]
Rienstein, Shlomit [2 ]
机构
[1] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel
[2] Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, IL-52621 Tel Hashomer, Israel
[3] Chaim Sheba Med Ctr, Dept Obstet & Gynecol, IL-52621 Tel Hashomer, Israel
[4] Tel Aviv Univ, Sackler Fac Med, Ramat Aviv, Israel
关键词
Preimplantation embryos; Aneuploidy; Mosaicism; Normalization; FISH; CGH; Array CGH; COMPARATIVE GENOMIC HYBRIDIZATION; IN-SITU HYBRIDIZATION; ADVANCED MATERNAL AGE; GENETIC DIAGNOSIS; SPONTANEOUS-ABORTIONS; HUMAN BLASTOCYST; SELF-CORRECTION; ANEUPLOIDY; MOSAICISM; STAGE;
D O I
10.1007/s10815-013-9988-y
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In order to investigate the dynamics of genomic alterations that occur at different developmental stages in vitro, we examined the chromosome content of human preimplantation embryos by molecular-cytogenetic techniques at the single-cell level, up to 13 days post fertilization. The embryos were genetically analyzed several times during their development in culture; each embryo was first analyzed by FISH at 'Day 3' post fertilization, than during its growth in vitro and the third analysis was performed at development arrest, then the entire blastocyst was analyzed by comparative genomic hybridization (CGH/aCGH). We found that while on 'Day 3' only 31 % of the embryos were detected as normal, on 'Day 5-6', 44 % of the embryos were classified as normal and on 'Day 7', 57 % were normal. On 'Days 8-13', 52 % of the embryos were classified as chromosomally normal. One third of the embryos that were chromosomally abnormal on 'Day 3', were found to be normal at development arrest point. These dynamic changes that occur at early developmental stages suggest that testing a single blastomere at 'Day 3' post fertilization for PGD might inaccurately reflect the embryo ploidy and increase the risk of false aneuploidy diagnosis. Alternatively, blastocyst stage diagnosis may be more appropriate.
引用
收藏
页码:633 / 648
页数:16
相关论文
共 55 条
[51]   Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization [J].
Voullaire, L ;
Slater, H ;
Williamson, R ;
Wilton, L .
HUMAN GENETICS, 2000, 106 (02) :210-217
[52]   Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization [J].
Wells, D ;
Delhanty, JDA .
MOLECULAR HUMAN REPRODUCTION, 2000, 6 (11) :1055-1062
[53]   Preimplantation genetic diagnosis for aneuploidy screening in early human embryos: a review [J].
Wilton, L .
PRENATAL DIAGNOSIS, 2002, 22 (06) :512-518
[54]   Identification of embryonic chromosomal abnormality using FISH-based preimplantaion genetic diagnosis [J].
Ying-hui Ye ;
Chen-ming Xu ;
Fan Jin ;
Yu-li Qian .
Journal of Zhejiang University-SCIENCE A, 2004, 5 (10) :1249-1254
[55]   PGS-FISH in reproductive medicine and perspective directions for improvement: a systematic review [J].
Zamora, Sandra ;
Clavero, Ana ;
Carmen Gonzalvo, M. ;
de Dios Luna del Castillo, Juan ;
Antonio Roldan-Nofuentes, Jose ;
Mozas, Juan ;
Antonio Castilla, Jose .
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2011, 28 (08) :747-757