title: [Implementation of arrays in first trimester prenatal diagnosis].
abstract: OBJECTIVE
  Array technology in chorionic villus sampling (CVS) - analysis of clinical benefit and a proposal of a more effective 1st trimester genetic testing policy.
  
  
  METHODS
  Retrospective study.
  
  
  METHODS
  Gennet, Center of Medical Genetics and Reproductive Medicine, Prague.
  
  
  METHODS
  Total of 913 CVS were performed at Gennet between 2010-2014. All 913 samples were tested by QF-PCR rapid test for aneuploidy of chromosomes 13, 18, 21, X and Y and karyotyping following standard long term culture. Microarray analysis (Illumina HumanCytoSNP12 v2.1) was performed on 179 samples with normal result from both - QF-PCR and karyotyping.
  
  
  RESULTS
  At 229 samples the common chromosomal aneuploidy was detected using rapid QF-PCR (25% from 911 successful rapid tests). Conventional karyotyping revealed 239 unbalanced chromosome aberrations (27% from 897 successful cultivations). 227/239 (95%) positive karyotypes confirmed QF-PCR finding of common aneuploidies. 10 unbalanced chromosome aberrations were not covered by rapid QF-PCR test. Microarray analysis of samples with normal result from both- QF-PCR and karyotyping- revealed 13 clinically relevant chromosome aberrations (7.5%).
  
  
  CONCLUSIONS
  New policy for chorionic villi testing at Gennet was established. Based on evaluation of the results of karyotyping, array and QF-PCR and analysis of published data we decided to replace karyotyping by microarray analysis in all cases of foetuses with normal results from QF-PCR. More effective detection of pathological and clinically relevant chromosome aberrations in examined foetuses is expected.
authors.forename: M
authors.initials: M
authors.lastname: Trková
authors.forename: M
authors.initials: M
authors.lastname: Putzová
authors.forename: V
authors.initials: V
authors.lastname: Bečvářová
authors.forename: J
authors.initials: J
authors.lastname: Horáček
authors.forename: I
authors.initials: I
authors.lastname: Soldátová
authors.forename: L
authors.initials: L
authors.lastname: Krautová
authors.forename: M
authors.initials: M
authors.lastname: Sekowská
authors.forename: J
authors.initials: J
authors.lastname: Hodačová
authors.forename: L
authors.initials: L
authors.lastname: Hnyková
authors.forename: E
authors.initials: E
authors.lastname: Hlavová
authors.forename: D
authors.initials: D
authors.lastname: Smetanová
authors.forename: D
authors.initials: D
authors.lastname: Stejskal
mesh_terms: D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D025063:Chromosome Disorders / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods*; D016133:Polymerase Chain Reaction / Q000379:methods; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies
keywords: CVS; QF-PCR; array.; karyotype; prenatal diagnosis