PMID- 26825930
OWN - NLM
STAT- MEDLINE
DCOM- 20161213
LR  - 20161230
IS  - 1741-7899 (Electronic)
IS  - 1470-1626 (Linking)
VI  - 151
IP  - 4
DP  - 2016 Apr
TI  - Chromosomal analysis of blastocysts from balanced chromosomal rearrangement 
      carriers.
PG  - 455-64
LID - 10.1530/REP-16-0007 [doi]
AB  - Balanced chromosomal rearrangements (CRs) are among the most common genetic 
      abnormalities in humans. In the present study, we have investigated the degree of 
      consistency between the chromosomal composition of the blastocyst inner cell mass 
      (ICM) and trophectoderm (TE) in carriers with balanced CR, which has not been 
      previously addressed. As a secondary aim, we have also evaluated the validity of 
      cleavage-stage preimplantation genetic diagnosis (PGD) based on fluorescence in 
      situ hybridization (FISH) of blastocysts from CR carriers. Blastocyst ICM and TE 
      were screened for chromosomal aneuploidy and imbalance of CR-associated 
      chromosomes based on whole-genome copy number variation analysis by low-coverage 
      next-generation sequencing (NGS) following single-cell whole-genome amplification 
      by multiple annealing and looping-based amplification cycling. The NGS results 
      were analyzed without knowledge of cleavage-stage FISH results. NGS results for 
      blastocyst ICM and TE from CR carriers were 86.49% (32/37) consistent. Of the 
      1702 (37 x 46) chromosomes examined, 99.47% (1693/1702) showed consistency. 
      However, only 40.0% (18/45) of all embryos had consistent results for chromosomes 
      involved in CR, as determined by blastocyst NGS and cleavage-stage FISH. Of the 
      85 CR-affected chromosomes analyzed by FISH, 37.65% (32/85) were incongruous with 
      NGS results, with 87.5% (28/32) showing imbalanced composition by FISH but 
      balanced composition by NGS. These results indicate that chromosomal composition 
      of blastocyst ICM and TE in balanced CR carriers is highly consistent, and that 
      PGD based on cleavage-stage FISH is inaccurate; therefore, using blastocyst TE 
      biopsies for NGS-based PGD is recommended for identifying chromosomal imbalance 
      in embryos from balanced CR carriers.
CI  - (c) 2016 Society for Reproduction and Fertility.
FAU - Gui, Baoheng
AU  - Gui B
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Yao, Zhongyuan
AU  - Yao Z
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Li, Yanping
AU  - Li Y
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Liu, Donge
AU  - Liu D
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Liu, Nenghui
AU  - Liu N
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Xia, Yan
AU  - Xia Y
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Huang, Yanru
AU  - Huang Y
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Mei, Libin
AU  - Mei L
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Ma, Ruiyu
AU  - Ma R
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Lu, Sijia
AU  - Lu S
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Liang, Desheng
AU  - Liang D
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China.
FAU - Wu, Lingqian
AU  - Wu L
AD  - The State Key Laboratory of Medical Genetics of ChinaCentral South University, 
      No. 110 Xiangya Road, Changsha, Hunan 410008, ChinaThe Reproductive Medical 
      Center of Xiangya HospitalCentral South University, No. 87 Xiangya Road, 
      Changsha, Hunan 410008, ChinaYikon Genomics Co. Ltd1 China Medical Avenue, 
      Taizhou, Jiangsu 225300, China wulingqian@sklmg.edu.cn.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20160129
PL  - England
TA  - Reproduction
JT  - Reproduction (Cambridge, England)
JID - 100966036
SB  - IM
MH  - Aneuploidy
MH  - Blastocyst/cytology/*metabolism
MH  - Blastocyst Inner Cell Mass/cytology/*metabolism
MH  - *Chromosome Aberrations
MH  - Comparative Genomic Hybridization
MH  - DNA Copy Number Variations
MH  - Female
MH  - *Gene Rearrangement
MH  - Heterozygote
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
EDAT- 2016/01/31 06:00
MHDA- 2016/12/15 06:00
CRDT- 2016/01/31 06:00
PHST- 2015/05/28 00:00 [received]
PHST- 2016/01/28 00:00 [accepted]
PHST- 2016/01/31 06:00 [entrez]
PHST- 2016/01/31 06:00 [pubmed]
PHST- 2016/12/15 06:00 [medline]
AID - REP-16-0007 [pii]
AID - 10.1530/REP-16-0007 [doi]
PST - ppublish
SO  - Reproduction. 2016 Apr;151(4):455-64. doi: 10.1530/REP-16-0007. Epub 2016 Jan 29.