High-sensitive microarray substrates specifically designed to improve sensitivity for the identification of fetal paternally inherited sequences in maternal plasma

Francesca Bruno, Francesco Damin, Vincenza Causarano, Silvia Galbiati, Gabriele Di Carlo, Manuela Seia, Luigi Porcaro, Maurizio Ferrari, Marcella Chiari, Laura Cremonesi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)818-823
Number of pages6
JournalClinical Chemistry and Laboratory Medicine
Volume47
Issue number7
DOIs
Publication statusPublished - Jul 1 2009

Keywords

  • Fetal DNA in maternal plasma
  • Fluorescence amplifying slides
  • Microarray
  • Non-invasive prenatal diagnosis

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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