PMID- 28397213
OWN - NLM
STAT- MEDLINE
DCOM- 20170914
LR  - 20170914
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 34
IP  - 2
DP  - 2017 Apr 10
TI  - [Analysis of genome-wide copy number variations among fetuses with abnormalities 
      detected by prenatal ultrasouography].
PG  - 178-182
LID - 10.3760/cma.j.issn.1003-9406.2017.02.005 [doi]
AB  - OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by 
      prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. 
      METHODS: Two hundred and eight fetuses were tested with SNP array and 
      conventional karyotyping. Complex copy number variations (CNVs) were verified 
      with fluorescence in situ hybridization (FISH), multiplex ligation-dependent 
      probe amplification (MLPA) and quantitative fluorescence polymerase chain 
      reaction (QF-PCR). RESULTS: For the 208 cases, the diagnostic yields of 
      conventional karyotping and SNP assay were 8.2%(17/208) and 13.9%(29/208), 
      respectively. For fetuses with malformations of the cardiovascular system, 
      central nervous system or multiple systems, pathogenic CNVs was detected in 4.6% 
      (8/174), 2.3%(4/174), and 1.1% (2/174) of all fetuses, respectively. No 
      pathogenic CNVs was detected among those with abnormalities of the renal system, 
      digestive system, skeletal system, facial dysmorphism or respiratory system. 
      CONCLUSION: CNVs are significantly related with birth defects. Compared with 
      conventional karyotyping, SNP array is a better platform for CNVs detection and 
      can provide more clues for genetic counseling, recurrence risk assessment and 
      prenatal diagnosis.
FAU - Wu, Ke
AU  - Wu K
AD  - School of Laboratory Medicine, School of Life Science, Wenzhou Medical 
      University, Wenzhou, Zhejiang 325035, China. jxlu313@163.com.
FAU - Tang, Shaohua
AU  - Tang S
FAU - Chen, Chong
AU  - Chen C
FAU - Li, Huanzheng
AU  - Li H
FAU - Zhou, Lili
AU  - Zhou L
FAU - Lyu, Jianxin
AU  - Lyu J
LA  - chi
PT  - Journal Article
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  - Adult
MH  - Chromosome Aberrations
MH  - *DNA Copy Number Variations
MH  - Female
MH  - Fetal Diseases/diagnosis/diagnostic imaging/*genetics
MH  - Genome-Wide Association Study
MH  - Humans
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - Pregnancy
MH  - Pregnancy Complications/diagnosis/diagnostic imaging/*genetics
MH  - Prenatal Diagnosis
MH  - Ultrasonography
MH  - Young Adult
EDAT- 2017/04/12 06:00
MHDA- 2017/09/15 06:00
CRDT- 2017/04/12 06:00
PHST- 2017/04/12 06:00 [entrez]
PHST- 2017/04/12 06:00 [pubmed]
PHST- 2017/09/15 06:00 [medline]
AID - 940634036 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2017.02.005 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):178-182. doi: 
      10.3760/cma.j.issn.1003-9406.2017.02.005.