PMID- 32908864
OWN - NLM
STAT- MEDLINE
DCOM- 20200918
LR  - 20220416
IS  - 2314-6141 (Electronic)
IS  - 2314-6133 (Print)
VI  - 2019
DP  - 2019
TI  - Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal 
      Translucency Greater than 2.5 mm.
PG  - 6504159
LID - 10.1155/2019/6504159 [doi]
LID - 6504159
AB  - OBJECTIVE: To assess the clinical value of prenatal diagnosis using quantitative 
      fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray 
      analysis (CMA) for the examination of genomic imbalances in prenatal amniotic 
      fluid samples from fetuses with a nuchal translucency (NT) greater than or equal 
      to 2.5 mm. MATERIALS AND METHODS: A total of 494 amniotic fluid samples and 5 
      chorionic villus samples were included in this study, with a fetal NT >/= 2.5 mm at 
      11-13(+6) weeks of gestation from November 2015 to December 2018. All cases were 
      examined with QF-PCR, and those with normal QF-PCR results were then analyzed by 
      CMA. RESULTS: Of the 499 cases, common aneuploidies were detected by QF-PCR in 61 
      (12.2%) cases. One case of triploidy, one case of trisomy 21 mosaicism, and two 
      cases of X/XX mosaicism were further confirmed by fluorescence in situ 
      hybridization (FISH). Among the 434 cases with normal QF-PCR results, microarray 
      detected additional pathogenic copy number variants (CNVs) in 4.8% (21/434) of 
      cases. Six cases would have been expected to be detectable by conventional 
      karyotyping because of large deletions/duplications (>10 Mb), leaving fifteen 
      (3.5%, 15/428) cases with pathogenic CNVs only detectable by CMA. Pathogenic 
      CNVs, especially those <10 Mb, were centralized in cases with an NT < 4.5 mm, 
      including 5 pathogenic CNVs in cases with an NT of 2.5-3.5 mm and 7 pathogenic 
      CNVs in cases with an NT of 3.5-4.5 mm. CONCLUSIONS: It is rational to use a 
      diagnostic strategy in which CMA is preceded by a less-expensive, rapid method, 
      namely, QF-PCR, to detect common aneuploidies. CMA allows for the detection of a 
      number of pathogenic chromosomal aberrations in fetuses with an NT >/= 2.5 mm.
CI  - Copyright (c) 2019 Zhu Zhang et al.
FAU - Zhang, Zhu
AU  - Zhang Z
AUID- ORCID: 0000-0002-7489-6917
AD  - Prenatal Diagnosis Center, West China Second University Hospital, Sichuan 
      University, Chengdu, Sichuan, China.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children 
      (Sichuan University), Ministry of Education, Chengdu, China.
FAU - Hu, Ting
AU  - Hu T
AD  - Prenatal Diagnosis Center, West China Second University Hospital, Sichuan 
      University, Chengdu, Sichuan, China.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children 
      (Sichuan University), Ministry of Education, Chengdu, China.
FAU - Wang, Jiamin
AU  - Wang J
AD  - Prenatal Diagnosis Center, West China Second University Hospital, Sichuan 
      University, Chengdu, Sichuan, China.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children 
      (Sichuan University), Ministry of Education, Chengdu, China.
FAU - Li, Qinqin
AU  - Li Q
AD  - Prenatal Diagnosis Center, West China Second University Hospital, Sichuan 
      University, Chengdu, Sichuan, China.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children 
      (Sichuan University), Ministry of Education, Chengdu, China.
FAU - Wang, He
AU  - Wang H
AUID- ORCID: 0000-0002-9357-9693
AD  - Prenatal Diagnosis Center, West China Second University Hospital, Sichuan 
      University, Chengdu, Sichuan, China.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children 
      (Sichuan University), Ministry of Education, Chengdu, China.
FAU - Liu, Shanling
AU  - Liu S
AUID- ORCID: 0000-0001-8788-7991
AD  - Prenatal Diagnosis Center, West China Second University Hospital, Sichuan 
      University, Chengdu, Sichuan, China.
AD  - Key Laboratory of Birth Defects and Related Diseases of Women and Children 
      (Sichuan University), Ministry of Education, Chengdu, China.
LA  - eng
PT  - Journal Article
DEP - 20191003
PL  - United States
TA  - Biomed Res Int
JT  - BioMed research international
JID - 101600173
SB  - IM
MH  - Adult
MH  - Chromosome Disorders/*diagnosis
MH  - DNA Copy Number Variations/genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Microarray Analysis
MH  - *Nuchal Translucency Measurement
MH  - Pregnancy
MH  - *Prenatal Diagnosis
PMC - PMC7471829
COIS- The authors declare no conflicts of interest.
EDAT- 2020/09/11 06:00
MHDA- 2020/09/20 06:00
PMCR- 2019/10/03
CRDT- 2020/09/10 05:36
PHST- 2019/05/18 00:00 [received]
PHST- 2019/09/17 00:00 [accepted]
PHST- 2020/09/10 05:36 [entrez]
PHST- 2020/09/11 06:00 [pubmed]
PHST- 2020/09/20 06:00 [medline]
PHST- 2019/10/03 00:00 [pmc-release]
AID - 10.1155/2019/6504159 [doi]
PST - epublish
SO  - Biomed Res Int. 2019 Oct 3;2019:6504159. doi: 10.1155/2019/6504159. eCollection 
      2019.