title: Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings.
abstract: OBJECTIVE
  To evaluate the clinical value of a high-resolution whole-genome array method for examination of genomic imbalances in prenatal samples (46 amniotic fluid, 17 chorionic villus, and 26 products of conception) from fetuses with abnormal ultrasound, in a clinical setting where more than 90% of pregnant women receive first-trimester combined screening and a second-trimester anomaly scan.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  Fetal medicine units (national healthcare system) in Central and North Denmark Regions from March 2009 to April 2012.
  
  
  METHODS
  Eighty-nine samples obtained at 11.5-35.0 (mean 19.3) gestational weeks, either during ongoing pregnancy or after termination.
  
  
  METHODS
  DNA was extracted directly from amniotic fluid cells and chorionic villus samples, or from cultured cells, and examined with 80-kb resolution oligonucleotide array-based comparative genomic hybridization (aCGH).
  
  
  METHODS
  Clinically significant copy number variations identified by aCGH.
  
  
  RESULTS
  We detected clinically significant copy number variations in 11 fetuses (12%, confidence interval 6.0-19%) with structural malformations. Three fetuses (3.4%) had uncertain clinical significant variations and incidental findings.
  
  
  CONCLUSIONS
  aCGH is a valuable diagnostic tool when fetal malformations are detected. More affected fetuses may be diagnosed at an earlier gestational age providing better possibilities for postnatal treatment and allowing for women to decide earlier on termination of pregnancy. When a normal result has reduced the risk of significant chromosomal aberration, aCGH may facilitate parental decision-making on whether to continue the pregnancy.
authors.affiliation: Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. else.marie.vestergaard@dadlnet.dk
authors.forename: Else Marie
authors.initials: EM
authors.lastname: Vestergaard
authors.forename: Rikke
authors.initials: R
authors.lastname: Christensen
authors.forename: Olav B
authors.initials: OB
authors.lastname: Petersen
authors.forename: Ida
authors.initials: I
authors.lastname: Vogel
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D055028:Comparative Genomic Hybridization; D003430:Cross-Sectional Studies; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D011247:Pregnancy; D011264:Pregnancy Trimesters; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal