PMID- 25863078
OWN - NLM
STAT- MEDLINE
DCOM- 20150618
LR  - 20191210
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 32
IP  - 2
DP  - 2015 Apr
TI  - [Application of whole-genome and high-resolution chromosome microarray analysis 
      for the investigation of fetuses with ultrasound abnormalities].
PG  - 169-74
LID - 10.3760/cma.j.issn.1003-9406.2015.02.004 [doi]
AB  - OBJECTIVE: To assess the value of whole-genome high-resolution chromosome 
      microarray analysis (CMA) for the investigation of fetuses with ultrasound 
      abnormalities. METHODS: Whole genome high-resolution CytoScanHD array from 
      Affymetrix was employed to investigate 651 fetuses with structural abnormalities 
      detected by ultrasound, for whom standard G-banded chromosome analysis has 
      revealed a normal karyotype. The fetuses were divided into a single malformation 
      group (n=264) and a multiple malformations group (n=387). In total there were 130 
      chorionic villus samples, 192 amniotic fluid samples and 329 cord blood samples. 
      Extraction of fetal DNA and CMA experiment have followed the standard guidelines 
      from the manufacturers. All copy number variations (CNVs) detected by CMA were 
      confirmed by fluorescence in situ hybridization (FISH) or real-time polymerase 
      chain reaction (RT-PCR). RESULTS: CMA analysis has detected genomic CNVs in 475 
      (73%) cases. Clinically significant CNVs were found in 11.5% (75/651) of fetuses, 
      including two uniparental disomies (UPD) and two cryptic mosaicisms. Variations 
      of unknown significance (VOUS) was found in 2.0% (13/651) of tested fetuses. 
      CONCLUSION: Above results have suggested that whole-genome and high-resolution 
      CMA is valuable for the analysis of fetuses with structural abnormalities 
      detected by ultrasound, which can increase the detection rate by approximately 
      11%. CMA using single nucleotide polymorphism (SNP) array has the ability to 
      detect UPD and low-level mosaicisms. Sufficient communication between technicians 
      and genetic counselors, parental testing and comparison the results with in-house 
      and relevant online databases can significantly reduce the rate of VOUS.
FAU - Zhang, Yan
AU  - Zhang Y
AD  - Prenatal Diagnostic Center, Guangzhou Women and Chilren's Medical Centre, 
      Guangzhou Medical University, Guangzhou, Guangdong 510623, P.R. China. 
      canliao@hotmail.com.
FAU - Fu, Fang
AU  - Fu F
FAU - Li, Ru
AU  - Li R
FAU - Xie, Guie
AU  - Xie G
FAU - Han, Jin
AU  - Han J
FAU - Pan, Min
AU  - Pan M
FAU - Zhen, Li
AU  - Zhen L
FAU - Yang, Xin
AU  - Yang X
FAU - Li, Dongzhi
AU  - Li D
FAU - Liao, Can
AU  - Liao C
LA  - chi
PT  - Evaluation Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Chromosome Aberrations
MH  - Chromosomes, Human/*genetics
MH  - DNA Copy Number Variations
MH  - Female
MH  - Fetal Diseases/*diagnosis/diagnostic imaging/*genetics
MH  - Genome, Human
MH  - Humans
MH  - Karyotyping
MH  - Male
MH  - Oligonucleotide Array Sequence Analysis/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Ultrasonography
EDAT- 2015/04/12 06:00
MHDA- 2015/06/19 06:00
CRDT- 2015/04/12 06:00
PHST- 2015/04/12 06:00 [entrez]
PHST- 2015/04/12 06:00 [pubmed]
PHST- 2015/06/19 06:00 [medline]
AID - 940632035 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2015.02.004 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):169-74. doi: 
      10.3760/cma.j.issn.1003-9406.2015.02.004.