Magzati aneuploidiák szabadnukleinsav-alapú, nem invazív diagnosztikája

Translated title of the contribution: Cell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidies

Levente Lázár, Gyula Richárd Nagy, János Rigó, Bálint Nagy

Research output: Contribution to journalArticle

1 Citation (Scopus)

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.

Translated title of the contributionCell-free nucleic acid based non-invasive prenatal diagnosis of fetal aneuploidies
Original languageHungarian
Pages (from-to)1687-1691
Number of pages5
JournalOrvosi hetilap
Volume153
Issue number43
DOIs
Publication statusPublished - Oct 1 2012

ASJC Scopus subject areas

  • Medicine(all)

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