PMID- 31319160
OWN - NLM
STAT- MEDLINE
DCOM- 20200430
LR  - 20200430
IS  - 1096-1194 (Electronic)
IS  - 0890-8508 (Linking)
VI  - 46
DP  - 2019 Aug
TI  - Evaluation of two aneuploidy screening tests for chorionic villus samples: 
      Multiplex ligation-dependent probe amplification and fluorescence in situ 
      hybridization.
PG  - 101422
LID - S0890-8508(19)30201-4 [pii]
LID - 10.1016/j.mcp.2019.101422 [doi]
AB  - The vast majority of first-trimester pregnancy losses are the consequence of 
      numerical aberrations in fetal chromosomes, which may involve nearly all 
      chromosomes. Although commercial probes for all chromosomes are available for 
      multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ 
      hybridization (FISH) analyses, their use has rarely been reported for screening 
      all 24 chromosomes for early fetal demise, especially by FISH. Here, we validated 
      the ability of MLPA and FISH techniques as two low-cost aneuploidy screening 
      methods for 24 chromosomes in 165 chorionic villus samples (CVSs). The results 
      obtained by two methods were compared by the Chi-square test and the Kappa 
      agreement test. Both methods gave conclusive results for all CVSs tested and 
      showed highly consistent results (kappa = 0.890, p < 0.001). There was no 
      statistically significant difference between the aneuploidy rate of the CVSs 
      tested by the two methods (p = 0.180). Most of the samples showed fully 
      concordant molecular karyotyping results (81.21%) between the two analytical 
      methods, 10.91% had incompletely concordant results, and 7.88% had discordant 
      results. The inconsistencies included segmental abnormalities, mosaicism, and 
      polyploidy. Both assays used to screen 24 chromosomes were powerful techniques 
      for detecting aneuploidy in CVSs. In terms of cost-effectiveness and diagnostic 
      accuracy, the combination of subtelomeric (P036, P070) and centromeric (P181) 
      MLPA assays is the better analytic strategy and follow-up analysis by FISH is 
      recommended for MLPA-negative samples.
CI  - Copyright (c) 2019 Elsevier Ltd. All rights reserved.
FAU - Wu, Tonghua
AU  - Wu T
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Zhu, Yuanchang
AU  - Zhu Y
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Hong, Ling
AU  - Hong L
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Lin, Qi
AU  - Lin Q
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Chen, Chunmei
AU  - Chen C
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Yang, Jing
AU  - Yang J
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Ye, Lijun
AU  - Ye L
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Huang, Wensi
AU  - Huang W
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China.
FAU - Zeng, Yong
AU  - Zeng Y
AD  - Shenzhen Key Laboratory for Reproductive Immunology of Preimplantation, Shenzhen 
      Zhongshan Institute for Reproduction and Genetics, Fertility Center, Shenzhen 
      Zhongshan Urology Hospital, Shenzhen, Guangdong, 518045, China. Electronic 
      address: zengyong1966@sina.com.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190715
PL  - England
TA  - Mol Cell Probes
JT  - Molecular and cellular probes
JID - 8709751
SB  - IM
MH  - *Aneuploidy
MH  - Chorionic Villi/*physiopathology
MH  - Chorionic Villi Sampling/*methods
MH  - Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Mosaicism
MH  - Multiplex Polymerase Chain Reaction
MH  - Pregnancy
OTO - NOTNLM
OT  - Fetal chromosomal abnormality
OT  - Fluorescence in situ hybridization (FISH)
OT  - Mosaicism
OT  - Multiplex ligation-dependent probe amplification (MLPA)
OT  - Pregnancy loss
EDAT- 2019/07/19 06:00
MHDA- 2020/05/01 06:00
CRDT- 2019/07/19 06:00
PHST- 2019/05/26 00:00 [received]
PHST- 2019/07/09 00:00 [revised]
PHST- 2019/07/15 00:00 [accepted]
PHST- 2019/07/19 06:00 [pubmed]
PHST- 2020/05/01 06:00 [medline]
PHST- 2019/07/19 06:00 [entrez]
AID - S0890-8508(19)30201-4 [pii]
AID - 10.1016/j.mcp.2019.101422 [doi]
PST - ppublish
SO  - Mol Cell Probes. 2019 Aug;46:101422. doi: 10.1016/j.mcp.2019.101422. Epub 2019 
      Jul 15.