title: Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia.
abstract: BACKGROUND
  In pregnancy, the discovery of fetal DNA in maternal blood outlined new scenarios for noninvasive prenatal diagnosis of numerous fetal pathological conditions based on a new source of fetal genetic material. Tests on fetal DNA circulating in maternal plasma are expected to replace or reduce invasive procedures, such as chorionic villi sampling and amniocentesis, that are typically carried out late in pregnancy and pose a risk of miscarriage.
  
  
  METHODS
  Nevertheless, at present, no accurate and simple methods for noninvasive prenatal diagnosis of genetic diseases are available, thus preventing a widespread clinical application.
  
  
  CONCLUSIONS
  Two highly different sensitive methodologies are reported both allowing the identification of fetal paternally inherited mutations in maternal plasma DNA during the first trimester of pregnancy in a clinically relevant genetic disease. The first one includes mutant enrichment amplification protocols either based on the use of PNA (peptide nucleic acids) or on CO-amplification at Lower Denaturation temperature-PCR (COLD-PCR). In the second approach, an extremely sensitive microarray substrates are exploited which allows the detection of fetal mutated alleles even without the need of any enrichment strategy. Beta-thalassemia has been chosen as a model of clinically relevant genetic disease.
authors.affiliation: Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, Genomic Unit for Diagnosis of Human Pathologies, Via Olgettina 60, 20132 Milan, Italy. galbiati.silvia@hsr.it
authors.forename: Silvia
authors.initials: S
authors.lastname: Galbiati
authors.forename: Angela
authors.initials: A
authors.lastname: Brisci
authors.forename: Francesco
authors.initials: F
authors.lastname: Damin
authors.forename: Barbara
authors.initials: B
authors.lastname: Gentilin
authors.forename: Cristina
authors.initials: C
authors.lastname: Curcio
authors.forename: Gabriella
authors.initials: G
authors.lastname: Restagno
authors.forename: Laura
authors.initials: L
authors.lastname: Cremonesi
authors.forename: Maurizio
authors.initials: M
authors.lastname: Ferrari
mesh_terms: D004247:DNA / Q000097:blood*; D005260:Female; D005333:Fetus / Q000378:metabolism*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis*
chemical_list: D004247:DNA