title: Prenatal Diagnosis of DNA Copy Number Variations by Genomic Single-Nucleotide Polymorphism Array in Fetuses with Congenital Heart Defects.
abstract: OBJECTIVE
  To evaluate the usefulness of single-nucleotide polymorphism (SNP) array for prenatal genetic diagnosis of congenital heart defect (CHD), we used this approach to detect clinically significant copy number variants (CNVs) in fetuses with CHDs.
  
  
  METHODS
  A HumanCytoSNP-12 array was used to detect genomic samples obtained from 39 fetuses that exhibited cardiovascular abnormalities on ultrasound and had a normal karyotype. The relationship between CNVs and CHDs was identified by using genotype-phenotype comparisons and searching of chromosomal databases. All clinically significant CNVs were confirmed by real-time PCR.
  
  
  RESULTS
  CNVs were detected in 38/39 (97.4%) fetuses: variants of unknown significance were detected in 2/39 (5.1%), and clinically significant CNVs were identified in 7/39 (17.9%). In 3 of the 7 fetuses with clinically significant CNVs, 3 rare and previously undescribed CNVs were detected, and these CNVs encompassed the CHD candidate genes FLNA (Xq28 dup), BCOR (Xp11.4 dup), and RBL2 (16q12.2 del).
  
  
  CONCLUSIONS
  Compared with conventional cytogenetic genomics, SNP array analysis provides significantly improved detection of submicroscopic genomic aberrations in pregnancies with CHDs. Based on these results, we propose that genomic SNP array is an effective method which could be used in the prenatal diagnostic test to assist genetic counseling for pregnancies with CHDs.
authors.affiliation: Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, China.
authors.forename: Shaohua
authors.initials: S
authors.lastname: Tang
authors.forename: Jiaojiao
authors.initials: J
authors.lastname: Lv
authors.forename: Xiangnan
authors.initials: X
authors.lastname: Chen
authors.forename: Lili
authors.initials: L
authors.lastname: Bai
authors.forename: Huanzheng
authors.initials: H
authors.lastname: Li
authors.forename: Chong
authors.initials: C
authors.lastname: Chen
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
authors.forename: Xueqin
authors.initials: X
authors.lastname: Xu
authors.forename: Jianxin
authors.initials: J
authors.lastname: Lu
mesh_terms: D056915:DNA Copy Number Variations; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011446:Prospective Studies