title: High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma.
abstract: BACKGROUND
  The identification of very low-levels of minority sequences has interesting clinical and diagnostic applications. Among these, non-invasive prenatal diagnosis of genetic diseases on fetal DNA circulating in maternal plasma is an emerging field of application.
  
  
  METHODS
  A combined approach based on innovative microarray slides coated with a special copolymer was developed for the identification of three polymorphisms located in the causative gene for cystic fibrosis (CF). This technique was applied to the analysis of fetal DNA in maternal plasma from four couples that carried different allelic variants.
  
  
  RESULTS
  The use of highly sensitive slides correctly identified fetal paternally inherited alleles without any enrichment strategy.
  
  
  CONCLUSIONS
  Our results confirm that the high fluorescence signal provided by the optimized substrate may be applied to the identification of any fetal paternally inherited sequence. This helps extend the application of non-invasive prenatal diagnosis to genetic diseases caused by predominant mutations or minor rare molecular defects.
authors.affiliation: Genomic Unit for the Diagnosis of Human Pathologies, Center for Genomics, Bioinformatics and Biostatistics, San Raffaele Scientific Institute, Milan, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Bruno
authors.forename: Francesco
authors.initials: F
authors.lastname: Damin
authors.forename: Vincenza
authors.initials: V
authors.lastname: Causarano
authors.forename: Silvia
authors.initials: S
authors.lastname: Galbiati
authors.forename: Gabriele
authors.initials: G
authors.lastname: Di Carlo
authors.forename: Manuela
authors.initials: M
authors.lastname: Seia
authors.forename: Luigi
authors.initials: L
authors.lastname: Porcaro
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
authors.forename: Marcella
authors.initials: M
authors.lastname: Chiari
authors.forename: Laura
authors.initials: L
authors.lastname: Cremonesi
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000097:blood*; D005260:Female; D005333:Fetus; D005456:Fluorescent Dyes / Q000737:chemistry; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005838:Genotype; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013379:Substrate Specificity
chemical_list: D005456:Fluorescent Dyes; D004247:DNA