title: [Next generation sequencing and its applications in non-invasive prenatal testing of aneuploidies].
abstract: The development of the new generation sequencing techniques brought a new era in the field of DNA sequencing, that also revolutionized the prenatal screening for aneuploidy. In order to provide a more complete view, the authors describe some first generation methods as well as the theoretical and technical background of the next generation methods. In the second part of this review, the authors focuse on non-invasive prenatal testing, which is a fetal cell-free DNA based method requiring advanced sequencing procedures. After discussing the theoretical and technical background, the authors review current application and utility of non-invasive prenatal testing. They conclude that non-invasive prenatal testing is the most effective screening test in high risk pregnancies and its efficiency can be justified in studies involving low risk pregnancies as well.
authors.affiliation: I. Szülészeti és Nőgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Baross u. 27., 1088.
authors.forename: Lilla Éva
authors.initials: LÉ
authors.lastname: Babay
authors.forename: Dániel
authors.initials: D
authors.lastname: Horányi
authors.forename: János
authors.initials: J
authors.lastname: Rigó
authors.forename: Gyula Richárd
authors.initials: GR
authors.lastname: Nagy
mesh_terms: D000782:Aneuploidy; D004247:DNA / Q000032:analysis; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA
keywords: cell-free DNA; next generation sequencing; non-invasive prenatal testing; noninvazív praenatalis tesztelés; szabad DNS; új generációs szekvenálás