Pregledni rad
https://doi.org/10.21860/medflum2026_349319
Non-Invasive Prenatal Diagnosis: Challenges, Obstacles and Potential
Jadranka Vraneković
orcid.org/0000-0001-6365-5686
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
*
Andrej Sušlić
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska
Anita Barišić
; Klinički bolnički centar Rijeka, Klinika za ginekologiju i opstetriciju, Rijeka Hrvatska
Ivana Babić Božović
; Sveučilište u Rijeci, Medicinski fakultet, Zavod za medicinsku biologiju i genetiku, Rijeka, Hrvatska; Klinički bolnički centar Rijeka, Klinika za ginekologiju i opstetriciju, Rijeka Hrvatska; Univerzitetni klinički centar Ljubljana, Klinički institut za genomsku medicinu, Ljubljana, Slovenija
* Dopisni autor.
Sažetak
Non-invasive prenatal diagnosis (NIPD) based on the analysis of cell-free fetal DNA in maternal circulation represents a revolutionary approach in prenatal medicine. This method enables early and accurate genetic assessment of the fetus without the risks associated with invasive diagnostic procedures. At present, non-invasive prenatal diagnosis is available only in specific, well-defined clinical circumstances, primarily in high-risk pregnancies and for the detection of certain monogenic disorders in cases where a familial mutation is known. Due to current technical limitations, the method is not yet applicable to all pregnancies or to all types of genetic disorders. With the rapid advancement of technologies, future developments are expected to enable the analysis of intact fetal DNA isolated from rare fetal cells in maternal blood.
Ključne riječi
cell free fetal DNA; fetal cells; non-invasive prenatal diagnostics; non-invasive prenatal screening tests
Hrčak ID:
349319
URI
Datum izdavanja:
1.9.2026.
Posjeta: 0 *