PMID- 27020032
OWN - NLM
STAT- MEDLINE
DCOM- 20161229
LR  - 20220408
IS  - 1673-8527 (Print)
IS  - 1673-8527 (Linking)
VI  - 43
IP  - 3
DP  - 2016 Mar 20
TI  - Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic 
      Hybridization on Products of Conception Culture Failure and Normal Karyotype 
      Samples.
PG  - 121-31
LID - S1673-8527(16)00028-X [pii]
LID - 10.1016/j.jgg.2016.02.002 [doi]
AB  - Approximately 30% of pregnancies after implantation end up in spontaneous 
      abortions, and 50% of them are caused by chromosomal abnormalities. However, the 
      spectrum of genomic copy number variants (CNVs) in products of conception (POC) 
      and the underlying gene-dosage-sensitive mechanisms causing spontaneous abortions 
      remain largely unknown. In this study, array comparative genomic hybridization 
      (aCGH) analysis was performed as a salvage procedure for 128 POC culture failure 
      (POC-CF) samples and as a supplemental procedure for 106 POC normal karyotype 
      (POC-NK) samples. Chromosomal abnormalities were detected in 10% of POC-CF and 
      pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. 
      Compiled results from this study and relevant case series through a literature 
      review demonstrated an abnormality detection rate (ADR) of 35% for chromosomal 
      abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 
      4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis (IPA) was 
      performed on the genes from pathogenic CNVs found in POC samples. The denoted 
      primary gene networks suggested that apoptosis and cell proliferation pathways 
      are involved in miscarriage. In summary, a similar spectrum of cytogenomic 
      abnormalities was observed in POC culture success and POC-CF samples. A threshold 
      effect correlating the number of dosage-sensitive genes in a chromosome with the 
      observed frequency of autosomal trisomy is proposed. A rationalized approach 
      using firstly fluorescence in situ hybridization (FISH) testing with probes of 
      chromosomes X/Y/18, 13/21, and 15/16/22 for common aneuploidies and polyploidies 
      and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF 
      samples.
CI  - Copyright (c) 2016 Institute of Genetics and Developmental Biology, Chinese Academy 
      of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights 
      reserved.
FAU - Zhou, Qinghua
AU  - Zhou Q
AD  - The First Affiliated Hospital, The Biomedical Translational Research Institute, 
      Jinan University, Guangzhou 510632, China; Department of Genetics, Yale 
      University School of Medicine, New Haven, CT 06520, USA. Electronic address: 
      qinghuazhou@jnu.edu.cn.
FAU - Wu, Shen-Yin
AU  - Wu SY
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, 
      USA.
FAU - Amato, Katherine
AU  - Amato K
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, 
      USA.
FAU - DiAdamo, Autumn
AU  - DiAdamo A
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, 
      USA.
FAU - Li, Peining
AU  - Li P
AD  - Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, 
      USA. Electronic address: peining.li@yale.edu.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20160213
PL  - China
TA  - J Genet Genomics
JT  - Journal of genetics and genomics = Yi chuan xue bao
JID - 101304616
SB  - IM
MH  - Abortion, Spontaneous/genetics
MH  - Adolescent
MH  - Adult
MH  - *Chromosome Aberrations
MH  - *Comparative Genomic Hybridization
MH  - DNA Copy Number Variations
MH  - Female
MH  - Fertilization/*genetics
MH  - Gene Dosage
MH  - Gene Regulatory Networks
MH  - Humans
MH  - *Karyotype
MH  - Male
MH  - Pregnancy
MH  - Young Adult
OTO - NOTNLM
OT  - Apoptosis
OT  - Array comparative genomic hybridization (aCGH)
OT  - Chromosomal and genomic abnormalities
OT  - Culture failure
OT  - Normal karyotype
OT  - Products of conception (POC)
EDAT- 2016/03/30 06:00
MHDA- 2016/12/31 06:00
CRDT- 2016/03/30 06:00
PHST- 2015/10/26 00:00 [received]
PHST- 2016/02/04 00:00 [revised]
PHST- 2016/02/07 00:00 [accepted]
PHST- 2016/03/30 06:00 [entrez]
PHST- 2016/03/30 06:00 [pubmed]
PHST- 2016/12/31 06:00 [medline]
AID - S1673-8527(16)00028-X [pii]
AID - 10.1016/j.jgg.2016.02.002 [doi]
PST - ppublish
SO  - J Genet Genomics. 2016 Mar 20;43(3):121-31. doi: 10.1016/j.jgg.2016.02.002. Epub 
      2016 Feb 13.