Review article

https://doi.org/10.21860/medflum2022_280997

Molecular diagnostic methods in prenatal medicine

Luca Zaninović orcid.org/0000-0002-1839-4234 ; Klinika za dječje bolesti Zagreb, Zagreb, Hrvatska
Ana Katušić Bojanac orcid.org/0000-0002-9078-4966 ; Sveučilište u Zagrebu, Medicinski fakultet, Zavod za biologiju, Zagreb, Hrvatska, Sveučilište u Zagrebu, Medicinski fakultet, Znanstveni centar izvrsnosti za reproduktivnu i regenerativnu medicinu (CERRM), Zagreb, Hrvatska
Marko Bašković orcid.org/0000-0003-4218-6184 ; Klinika za dječje bolesti Zagreb, Zagreb, Hrvatska, Sveučilište u Zagrebu, Medicinski fakultet, Znanstveni centar izvrsnosti za reproduktivnu i regenerativnu medicinu (CERRM), Zagreb, Hrvatska

Abstract

Prenatal medicine, in terms of screening for fetal chromosomal abnormalities, originated in the 70s of the last century. In the 21st century, with the development of advanced and rapid genome analysis technologies, such as chromosomal microarray and nextgeneration genome sequencing, prenatal diagnostics has expanded from the most common aneuploidies to detection of many other structural chromosomal abnormalities (DNA copy number variations, deletions, duplications), as well as monogenic diseases. In addition to classical invasive techniques (chorionic villus sampling, amniocentesis) that collect cells for cytogenetic and genomic analysis, today it is possible to non-invasively screen the fetal genome by analysing cell-free DNA isolated from the mother’s blood. Given its relatively high accuracy, simplicity, and early application potential, it is likely that such non-invasive testing will replace classical first-trimester screening that combined biochemical and fetal ultrasound parameters. There is no doubt that non-invasive screening by cfDNA analysis, along with the use of modern sequencing technologies, will certainly become increasingly diagnostically useful in prenatal medicine. However, the problem may lie in the analysis of genomic data where variations in nucleotide sequences are detected, with unknown clinical significance, and there is not yet a clearly defined clinical action procedure after such data. The aim of this review paper is to present a coherent overview of modern screening and diagnostic molecular methods in prenatal medicine from various sources, clinical data, review articles, and metaanalyses. The advantages and disadvantages of using screening methods and the analytical possibilities of individual molecular methods are highlighted, with the ultimate critical review and conceptualization of the future of such procedures.

Keywords

cell-free nucleic acids; noninvasive prenatal testing; prenatal diagnosis

Hrčak ID:

280997

URI

https://hrcak.srce.hr/280997

Publication date:

1.9.2022.

Article data in other languages: croatian

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