title: Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomalies.
abstract: OBJECTIVE
  To describe the diagnostic performance of array comparative genomic hybridization (aCGH) as a potential first line diagnostic method in first trimester high risk pregnancies.
  
  
  METHODS
  In a retrospective study we performed aCGH using a targeted array BAC platform (Constitutional Chip® 4.0, PerkinElmer, Turku Finland, median resolution 600 kB) and the Affymetrix Cytogenetics® Whole Genome 2.7 M array (at a resolution of 400kB) on 100 anonymized prenatal samples from first trimester high risk pregnancies with normal conventional karyotype. We studied the technical feasibility and turn-around-time as well as the detection rate of pathogenic submicroscopic chromosome anomalies and CNVs of unknown significance.
  
  
  RESULTS
  We obtained results in 98 of 100 samples in 3 to a maximum of 5 days after DNA extraction. At the given resolution we did not identify any additional pathogenic CNVs but two CNVs of unknown significance in the chromosomal regions 1q21.1q21.2 (deletion) and 5p15.33 (duplication) (2%).
  
  
  CONCLUSIONS
  In accordance with a growing number of reports this study supports the concept that aCGH at a resolution of 400-600kB may be used as a first line prenatal diagnostic test with high diagnostic safety and rapid turn-around time in high-risk first trimester pregnancies. Detection rate of CNVs of unknown significance, considered as a major hindrance for replacing conventional karyotyping by aCGH, is 2%, but the diagnosis of additional submicroscopic anomalies in this heterogeneous group of patients seems to be rare.
authors.affiliation: Dr, med, Isabel Filges, Division of Medical Genetics, University Children's Hospital and Department of Biomedicine, University of Basel, Burgfelderstrasse 101, Building J, CH-4055, Basel, Switzerland. Isabel.Filges@unibas.ch.
authors.forename: Isabel
authors.initials: I
authors.lastname: Filges
authors.forename: Anjeung
authors.initials: A
authors.lastname: Kang
authors.forename: Vanessa
authors.initials: V
authors.lastname: Klug
authors.forename: Friedel
authors.initials: F
authors.lastname: Wenzel
authors.forename: Karl
authors.initials: K
authors.lastname: Heinimann
authors.forename: Sevgi
authors.initials: S
authors.lastname: Tercanli
authors.forename: Peter
authors.initials: P
authors.lastname: Miny