title: [Cell-free nucleic acid-based non-invasive prenatal diagnosis of fetal aneuploidies].
abstract: Prenatal detection of fetal aneuploidies is one of the main goals of the prenatal diagnostic approach. As a benefit of the development of advanced ultrasound equipment and advances in molecular biology in the last decade, there is a significant progress in screening methods for fetal aneuploidies, although invasive methods remain the gold standard for aneuploidy detection. Non-invasive prenatal diagnosis has substantial medical impact as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently used invasive methods. Identification of fetal-specific messenger ribonucleic acids, digital polymerase chain reaction and next-generation sequencing give the real chance for non-invasive prenatal diagnosis of fetal aneuploidies. Although all these methods have both advantages and limitations, some of them are moving closer to clinical implementation. In this review the authors highlight the most recent advances in methods for non-invasive prenatal diagnosis of aneuploidies.
authors.affiliation: Semmelweis Egyetem, Általános Orvostudományi Kar I. Szülészeti és Nőgyógyászati Klinika, Budapest, Baross u. 27. lazar_levente@hotmail.com
authors.forename: Levente
authors.initials: L
authors.lastname: Lázár
authors.forename: Gyula Richárd
authors.initials: GR
authors.lastname: Nagy
authors.forename: János
authors.initials: J
authors.lastname: Rigó
authors.forename: Bálint
authors.initials: B
authors.lastname: Nagy
mesh_terms: D000022:Abortion, Spontaneous / Q000517:prevention & control; D000328:Adult; D000782:Aneuploidy; D004247:DNA / Q000097:blood; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009035:Mothers; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012333:RNA, Messenger / Q000302:isolation & purification*; D017423:Sequence Analysis, RNA
chemical_list: D012333:RNA, Messenger; D004247:DNA