title: New trend in non-invasive prenatal diagnosis.
abstract: The presence of fetal DNA in maternal plasma represents a source of genetic material which can be obtained non-invasively. To date, the translation of noninvasive prenatal diagnosis from research into clinical practice has been rather fragmented, and despite the advances in improving the analytical sensitivity of methods, distinguishing between fetal and maternal sequences remains very challenging. Thus, the field of noninvasive prenatal diagnosis of genetic diseases has yet to attain a routine application in clinical diagnostics. On the contrary, fetal sex determination in pregnancies at high risk of sex-linked disorders, tests for fetal RHD genotyping and non-invasive assessment of chromosomal aneuploidies are now available worldwide.
authors.affiliation: Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy; Laboratory of Clinical Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy; Università Vita-Salute San Raffaele, Milan, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.affiliation: Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy; Laboratory of Clinical Molecular Biology, IRCCS Ospedale San Raffaele, Milan, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Carrera
authors.affiliation: Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Lampasona
authors.affiliation: Unit of Genomic for the Diagnosis of Human Pathologies, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy. Electronic address: galbiati.silvia@hsr.it.
authors.forename: S
authors.initials: S
authors.lastname: Galbiati
mesh_terms: D004247:DNA / Q000097:blood; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000639:trends*
chemical_list: D004247:DNA
keywords: Chromosomal aneuploidies; Monogenic diseases; Non-invasive prenatal diagnosis; Paternally inherited features