title: [Analysis of genome-wide copy number variations among fetuses with abnormalities detected by prenatal ultrasouography].
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: School of Laboratory Medicine, School of Life Science, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. jxlu313@163.com.
authors.forename: Ke
authors.initials: K
authors.lastname: Wu
authors.forename: Shaohua
authors.initials: S
authors.lastname: Tang
authors.forename: Chong
authors.initials: C
authors.lastname: Chen
authors.forename: Huanzheng
authors.initials: H
authors.lastname: Li
authors.forename: Lili
authors.initials: L
authors.lastname: Zhou
authors.forename: Jianxin
authors.initials: J
authors.lastname: Lyu
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D056915:DNA Copy Number Variations; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011296:Prenatal Diagnosis; D014463:Ultrasonography; D055815:Young Adult