title: [New frontiers in noninvasive, prenatal screening and diagnosis: fetal DNA circulating in maternal blood].
abstract: Prenatal diagnosis is aimed to provide reliable clinical information to parents and physician on the risk of having babies affected by inherited anomalies or genetic disorders. Placenta is not a barrier between the pregnant woman and her genetically different fetus, but it is the centre of a complex bidirectional transfer. The discovery of circulating fetal DNA in maternal blood has disclosed new strategies to perform noninvasive testing for prenatal diagnosis, without any harm for the fetus. The possibility to measure rapidly and reproducibly fetal cell-free DNA with noninvasive techniques has warranted many clinical applications: gender detection, diagnosis of fetal aneuploidy such as 13, 18 and 21 trisomies, complications of pregnancy, X-linked diseases, cystic fibrosis, and several others.
authors.affiliation: Sezione di Chimica e Microscopia Clinica, Dipartimento di Scienze Morfologico-Biomediche, Università degli Studi di Verona, Verona, Italy. martina.montagnana@med.lu.se
authors.forename: M
authors.initials: M
authors.lastname: Montagnana
authors.forename: G
authors.initials: G
authors.lastname: Lippi
authors.forename: G C
authors.initials: GC
authors.lastname: Guidi
mesh_terms: D000782:Aneuploidy; D003550:Cystic Fibrosis / Q000175:diagnosis; D004247:DNA / Q000097:blood*; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005315:Fetal Diseases / Q000097:blood* / Q000175:diagnosis / Q000235:genetics*; D053686:Fetal Stem Cells; D005333:Fetus; D030342:Genetic Diseases, Inborn / Q000097:blood* / Q000175:diagnosis / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis; D005838:Genotype; D006801:Humans; D008403:Mass Screening; D009035:Mothers; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004247:DNA