PMID- 32767744
OWN - NLM
STAT- MEDLINE
DCOM- 20210531
LR  - 20210531
IS  - 2324-9269 (Electronic)
IS  - 2324-9269 (Linking)
VI  - 8
IP  - 10
DP  - 2020 Oct
TI  - Prenatal diagnosis of BACs-on-Beads assay in 1520 cases from Fujian Province, 
      China.
PG  - e1446
LID - 10.1002/mgg3.1446 [doi]
LID - e1446
AB  - BACKGROUND: The aim of this study was to evaluate the application of 
      BACs-on-Beads (BoBs) assay for rapid detection of chromosomal abnormalities for 
      prenatal diagnosis (PND). METHODS: A total of 1520 samples, including seven 
      chorionic villi biopsy samples, 1328 amniotic fluid samples, and 185 umbilical 
      cord samples from pregnant women were collected to detect the chromosomal 
      abnormalities using BoBs assay and karyotyping. Furthermore, abnormal specimens 
      were verified by chromosome microarray analysis (CMA) and fluorescence in situ 
      hybridization (FISH). RESULTS: The results demonstrated that the success rate of 
      karyotyping and BoBs assay in PND was 98.09% and 100%, respectively. BoBs assay 
      was concordant with karyotyping for Trisomy 21, Trisomy 18, and Trisomy 13, sex 
      chromosomal aneuploidy, Wolf-Hirschhorn syndrome, and mosaicism. BoBs assay also 
      detected Smith-Magenis syndrome, Williams-Beuren syndrome, DiGeorge syndrome, 
      Miller-Dieker syndrome, Prader-Willi syndrome, Xp22.31 microdeletions, 22q11.2, 
      and 17p11.2 microduplications. However, karyotyping failed to show these 
      chromosomal abnormalities. A case of 8q21.2q23.3 duplication which was found by 
      karyotyping was not detected by BoBs assay. Furthermore, all these chromosomal 
      abnormalities were consistent with CMA and FISH verifications. According to the 
      reports, we estimated that the detection rates of karyotyping, BoBs, and CMA in 
      the present study were 4.28%, 4.93%, and 5%, respectively, which is consistent 
      with the results of a previous study. The respective costs for the three methods 
      were about $135-145, $270-290, and $540-580. CONCLUSION: BoBs assay is 
      considered a reliable, rapid test for use in PND. A variety of comprehensive 
      technological applications can complement each other in PND, in order to maximize 
      the diagnosis rate and reduce the occurrence of birth defects.
CI  - (c) 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley 
      Periodicals LLC.
FAU - Wang, Yan
AU  - Wang Y
AUID- ORCID: 0000-0003-0928-8015
AD  - Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity 
      and Child Health Hospital, Affiliated Hospital of Fujian Medical University, 
      Fuzhou, China.
FAU - Zhang, Min
AU  - Zhang M
AUID- ORCID: 0000-0003-1027-7196
AD  - Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity 
      and Child Health Hospital, Affiliated Hospital of Fujian Medical University, 
      Fuzhou, China.
FAU - Chen, Lingji
AU  - Chen L
AD  - Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity 
      and Child Health Hospital, Affiliated Hospital of Fujian Medical University, 
      Fuzhou, China.
FAU - Huang, Hailong
AU  - Huang H
AD  - Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity 
      and Child Health Hospital, Affiliated Hospital of Fujian Medical University, 
      Fuzhou, China.
FAU - Xu, Liangpu
AU  - Xu L
AD  - Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity 
      and Child Health Hospital, Affiliated Hospital of Fujian Medical University, 
      Fuzhou, China.
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20200807
PL  - United States
TA  - Mol Genet Genomic Med
JT  - Molecular genetics & genomic medicine
JID - 101603758
SB  - IM
MH  - Adult
MH  - Amniocentesis/economics/*methods/standards
MH  - Chromosome Aberrations
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - Comparative Genomic Hybridization/economics/methods/standards
MH  - Costs and Cost Analysis
MH  - Female
MH  - Genetic Testing/economics/*methods/standards
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/economics/methods/standards
MH  - Karyotyping/economics/methods/standards
MH  - Pregnancy
MH  - Sensitivity and Specificity
PMC - PMC7549593
OTO - NOTNLM
OT  - BoBs
OT  - CMA
OT  - FISH
OT  - PND
OT  - karyotyping
OT  - microdeletions
OT  - microduplications
COIS- The authors declare that no conflict of interest was present that can be 
      perceived as having prejudiced the impartiality of the research reported.
EDAT- 2020/08/09 06:00
MHDA- 2021/06/01 06:00
PMCR- 2020/08/07
CRDT- 2020/08/09 06:00
PHST- 2020/03/02 00:00 [received]
PHST- 2020/07/08 00:00 [revised]
PHST- 2020/07/16 00:00 [accepted]
PHST- 2020/08/09 06:00 [pubmed]
PHST- 2021/06/01 06:00 [medline]
PHST- 2020/08/09 06:00 [entrez]
PHST- 2020/08/07 00:00 [pmc-release]
AID - MGG31446 [pii]
AID - 10.1002/mgg3.1446 [doi]
PST - ppublish
SO  - Mol Genet Genomic Med. 2020 Oct;8(10):e1446. doi: 10.1002/mgg3.1446. Epub 2020 
      Aug 7.