PMID- 31874470
OWN - NLM
STAT- MEDLINE
DCOM- 20200103
LR  - 20200108
IS  - 0529-567X (Print)
IS  - 0529-567X (Linking)
VI  - 54
IP  - 12
DP  - 2019 Dec 25
TI  - [Chromosomal abnormalities in spontaneous miscarriage specimens detected by 
      combinatorial probe anchor synthesis-based high-throughput low coverage whole 
      genome sequencing].
PG  - 808-814
LID - 10.3760/cma.j.issn.0529-567x.2019.12.004 [doi]
AB  - Objective: To evaluate the application of combinatorial probe anchor synthesis 
      (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal 
      aberration detection in spontaneous miscarriage. Methods: From September 2015 to 
      May 2017, spontaneous miscarriage samples were collected from Inner Mongolia 
      Maternal and Child Health Care Hospital. Those samples were further analyzed with 
      two independent methods, fluorescence in situ hybridization (FISH) and low 
      coverage whole genome sequencing on the BGISEQ-500 high-throughput platform. The 
      performance of low coverage whole genome sequencing was assessed by comparing to 
      FISH results. Results: In 595 spontaneous miscarried specimens, low coverage 
      whole genome sequencing revealed 144 cases (24.2%, 144/595) chromosomal 
      abnormalities, of which a subset of 137 cases (23.0%, 137/595) were detected as 
      aneuploidies, 2 cases (0.3%, 2/595) as mosaicisms and 5 cases (0.8%, 5/595) as 
      copy number variation (>/=5 Mb). Conclusion: cPAS-based high-throughput low 
      coverage whole genome sequencing is a reliable method in detecting chromosomal 
      aberrations inspontaneous abortion tissues, including chromosome aneuploidies, 
      mosaicisms and copy number variation (>/=5 Mb).
FAU - Wang, X H
AU  - Wang XH
AD  - Department of Genetic Eugenics, Inner Mongolia Maternal and Child Health Care 
      Hospital, Hohhot 010020, China.
FAU - Bai, R F
AU  - Bai RF
FAU - Zhou, Y
AU  - Zhou Y
FAU - Dong, H
AU  - Dong H
FAU - Ji, Y P
AU  - Ji YP
FAU - Hou, D X
AU  - Hou DX
FAU - Wu, R G M L
AU  - Wu RGML
FAU - Yang, X L
AU  - Yang XL
FAU - Ji, X P
AU  - Ji XP
LA  - chi
GR  - 2017MS0820/Natural Science Foundation of Inner Mongolia Autonomous Region/
PT  - Journal Article
PL  - China
TA  - Zhonghua Fu Chan Ke Za Zhi
JT  - Zhonghua fu chan ke za zhi
JID - 16210370R
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Abortion, Spontaneous/*genetics
MH  - Child
MH  - China
MH  - Chromosome Aberrations/embryology/*statistics & numerical data
MH  - Chromosomes/genetics
MH  - DNA/genetics
MH  - DNA Copy Number Variations/genetics
MH  - Female
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Pregnancy
MH  - Whole Genome Sequencing/methods
OTO - NOTNLM
OT  - Abortion, spontaneous
OT  - Chromosome aberrations
OT  - High-throughput nucleotide sequencing
OT  - Whole genome sequencing
EDAT- 2019/12/26 06:00
MHDA- 2020/01/04 06:00
CRDT- 2019/12/26 06:00
PHST- 2019/12/26 06:00 [entrez]
PHST- 2019/12/26 06:00 [pubmed]
PHST- 2020/01/04 06:00 [medline]
AID - 10.3760/cma.j.issn.0529-567x.2019.12.004 [doi]
PST - ppublish
SO  - Zhonghua Fu Chan Ke Za Zhi. 2019 Dec 25;54(12):808-814. doi: 
      10.3760/cma.j.issn.0529-567x.2019.12.004.