Publikácie

@article{Gazdarica2024,

title = {Insights into non-informative results from non-invasive prenatal screening through gestational age, maternal BMI, and age analyses},

author = {J. Gazdarica and N. Forgacova and T. Sladecek and M. Kucharik and J. Budis and M. Hyblova and M. Sekelska and A. Gnip and G. Minarik and T. Szemes},

url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85187162464&doi=10.1371%2fjournal.pone.0280858&partnerID=40&md5=c7288799cea18fb3514ec062aa42a91f},

doi = {10.1371/journal.pone.0280858},

issn = {19326203},

year  = {2024},

date = {2024-01-01},

urldate = {2024-01-01},

journal = {PLoS ONE},

volume = {19},

number = {3 March},

publisher = {Public Library of Science},

abstract = {The discovery of cell-free fetal DNA fragments in the maternal plasma initiated a novel testing method in prenatal care, called non-invasive prenatal screening (NIPS). One of the limitations of NIPS is the necessity for a sufficient proportion of fetal fragments in the analyzed circulating DNA mixture (fetal fraction), otherwise, the sample is uninterpretable. We present the effect of gestational age, maternal body mass index (BMI), and maternal age on the fetal fraction (FF) of the sample. We retrospectively analyzed data from 5543 pregnant women with a single male fetus who underwent NIPS from which 189 samples received a repeat testing due to an insufficient FF. We showed the relationship between the failure rate of the samples after the repeated analysis, the FF, and the gestational age at the first sampling. Next, we found that different maternal BMI categories affect the FF and thus the chance of an informative redraw. A better understanding of the factors affecting the FF will reduce the number of non-informative calls from repeated analyzes. In this study, we provide helpful information to clinicians on how to approach non-informative analyses. © 2024 Gazdarica et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.},

keywords = {Aneuploidy, Cell-free nucleic acids, Prenatal diagnosis},

pubstate = {published},

tppubtype = {article}

}

@article{Forgacova2022,

title = {Non-intuitive trends of fetal fraction development related to gestational age and fetal gender, and their practical implications for non-invasive prenatal testing},

author = {N. Forgacova and J. Gazdarica and J. Budis and M. Kucharik and M. Sekelska and T. Szemes},

url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85141451340&doi=10.1016%2fj.mcp.2022.101870&partnerID=40&md5=5f0a0eeb4603486d4288fc56950e00fe},

doi = {10.1016/j.mcp.2022.101870},

issn = {08908508},

year  = {2022},

date = {2022-01-01},

urldate = {2022-01-01},

journal = {Molecular and Cellular Probes},

volume = {66},

publisher = {Academic Press},

abstract = {Discovery of fetal cell-free DNA fragments in maternal blood revolutionized prenatal diagnostics. Although non-invasive prenatal testing (NIPT) is already a matured screening test with high specificity and sensitivity, the accurate estimation of the proportion of fetal fragments, called fetal fraction, is crucial to avoid false-negative results. In this study, we collected 6999 samples from women undergoing NIPT testing with a single male fetus to demonstrate the influence of fetal fraction by the maternal and fetal characteristics. We show several fetal fraction discrepancies that contradict the generally presented conventional view. At first, the fetal fraction is not consistently rising with the maturity of the fetus due to a drop in 15 weeks of maturation. Secondly, the male samples have a lower fetal fraction than female fetuses, arguably due to the smaller gonosomal chromosomes. Finally, we discuss not only the possible reasons why this inconsistency exists but we also outline why these differences have not yet been identified and published. We demonstrate two non-intuitive trends to better comprehend the fetal fraction development and more precise selection of patients with sufficient fetal fraction for accurate testing. © 2022 The Authors},

keywords = {Genetic testing, Non-invasive prenatal testing, Prenatal diagnosis},

pubstate = {published},

tppubtype = {article}

}

@article{Kiani2020e2020021,

title = {Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test},

author = {A K Kiani and S Paolacci and P Scanzano and S Michelini and N Capodicasa and L DÁgruma and A Notarangelo and G Tonini and D Piccinelli and K R Farshid and P Petralia and E Fulcheri and F Buffelli and P Chiurazzi and C Terranova and F Plotti and R Angioli and M Castori and O Pös and T Szemes and M Bertelli},

url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85096079899&doi=10.23750%2fabm.v91i13-S.10534&partnerID=40&md5=8100ee0e6931cd1a57203e138b3cd27c},

doi = {10.23750/abm.v91i13-S.10534},

issn = {25316745},

year  = {2020},

date = {2020-01-01},

journal = {Acta bio-medica : Atenei Parmensis},

volume = {91},

number = {13S},

pages = {e2020021},

publisher = {NLM (Medline)},

abstract = {BACKGROUND: Fetal abnormalities cause 20% of perinatal deaths. Advances in prenatal genetic and other types of screening offer great opportunities for identifying high risk pregnancies. METHODS: Through a literature search, here we summarise what are the prenatal diagnostic technique that are being used and how those techniques may allow for prenatal interventions. RESULTS: Next generation sequencing and non-invasive prenatal testing are fundamental for clinical diagnostics because of their sensitivity and accuracy in identifying point mutations, aneuploidies, and microdeletions, respectively. Timely identification of genetic disorders and other fetal abnormalities enables early intervention, such as in-utero gene therapy, fetal drug therapy and prenatal surgery. CONCLUSION: Prenatal intervention is mainly focused on conditions that may cause death or lifelong disabilities, like spina bifida, congenital diaphragm hernia and sacrococcygeal teratoma; and may be an alternative therapeutic option to termination of pregnancy. However, it is not yet widely available, due to lack of specialized centers.},

keywords = {Non-invasive prenatal testing, Prenatal diagnosis, Prenatal therapy, Review},

pubstate = {published},

tppubtype = {article}

}

@article{Budis20191284,

title = {Combining count- And length-based z-scores leads to improved predictions in non-invasive prenatal testing},

author = {J Budis and J Gazdarica and J Radvanszky and G Szucs and M Kucharik and L Strieskova and I Gazdaricova and M Harsanyova and F Duris and G Minarik and M Sekelska and B Nagy and J Turna and T Szemes},

url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85067353429&doi=10.1093%2fbioinformatics%2fbty806&partnerID=40&md5=c63c304db3eb59cb922d0ca8e3a9e76a},

doi = {10.1093/bioinformatics/bty806},

issn = {13674803},

year  = {2019},

date = {2019-01-01},

journal = {Bioinformatics},

volume = {35},

number = {8},

pages = {1284-1291},

publisher = {Oxford University Press},

abstract = {Motivation: Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable number of samples that cannot be concluded with certainty. Such uninformative results are often subject to repeated blood sampling and re-analysis, usually after two weeks, and this period may cause a stress to the future mothers as well as increase the overall cost of the test. Results: We propose a supplementary method to traditional z-scores to reduce the number of such uninformative calls. The method is based on a novel analysis of the length profile of circulating cell free DNA which compares the change in such profiles when random-based and length-based elimination of some fragments is performed. The proposed method is not as accurate as the standard z-score; however, our results suggest that combination of these two independent methods correctly resolves a substantial portion of healthy samples with an uninformative result. Additionally, we discuss how the proposed method can be used to identify maternal aberrations, thus reducing the risk of false positive and false negative calls. Availability and implementation: The open-source code of the proposed methods, together with test data, is freely available for non-commercial users at github web page https://github.com/jbudis/lambda. © The Author(s) 2018. Published by Oxford University Press. All rights reserved.},

keywords = {Aneuploidy, Computational method, Fetal fraction, Non-invasive prenatal testing, Prenatal diagnosis},

pubstate = {published},

tppubtype = {article}

}

@article{Repiská201558,

title = {Effect of different DNA concentration methods on performance of non-invasive fetal y-chromosomal short tandem repeat profiling from maternal plasma},

author = {G Repiská and T Sedláčková and T Szemes and G Minárik},

url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-84922410960&doi=10.1159%2f000362664&partnerID=40&md5=7c7661ed02547b6c348c02c18d1f0b51},

doi = {10.1159/000362664},

issn = {10153837},

year  = {2015},

date = {2015-01-01},

journal = {Fetal Diagnosis and Therapy},

volume = {37},

number = {1},

pages = {58-64},

publisher = {S. Karger AG},

abstract = {Background: The accuracy and reliability of detection of free fetal DNA in plasma of pregnant women can be significantly improved by increasing the overall DNA concentration following the isolation from maternal plasma. The aim of our study was to compare DNA concentration methods on samples with free fetal DNA. Materials and Methods: DNA isolated from plasma samples of pregnant women carrying a male fetus were concentrated by 3 different methods: vacuum concentration, centrifugal filters and spin columns. Their performance was evaluated using PCR-based Y-chromosomal short tandem repeat (Y-STR) genotyping of the fetus. Results: A statistically significant difference was found between the 3 tested methods (F = 15.57, p < 0.0001). Using vacuum concentration 85.3% of paternally inherited Y-STR alleles were correctly identified. A significantly smaller proportion of alleles was correctly identified in samples concentrated by centrifugal filters and spin columns - 75.9 and 66.5%, respectively. Discussion: The highest proportion of paternally inherited Y-STR alleles was found in samples concentrated with the use of vacuum concentration. This concentration procedure does not require further handling of the sample either, which is an advantage because it avoids potential sample contamination. On the other hand, when automation is considered, vacuum concentration is less suitable because of an uneven and unpredictable sample evaporation rate. © 2014 S. Karger AG, Basel.},

keywords = {Fetal fraction, Non-invasive prenatal testing, Prenatal diagnosis, Short tandem repeats},

pubstate = {published},

tppubtype = {article}

}

@article{Vlková2010258,

title = {Does maternal saliva contain fetal DNA usable for prenatal diagnostics?},

author = {B Vlková and T Szemes and G Minárik and J Turňa and P Celec},

url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-72449174721&doi=10.1016%2fj.mehy.2009.09.022&partnerID=40&md5=e4a8ec14001f99b11fadd011098f2c5d},

doi = {10.1016/j.mehy.2009.09.022},

issn = {03069877},

year  = {2010},

date = {2010-01-01},

journal = {Medical Hypotheses},

volume = {74},

number = {2},

pages = {258-260},

abstract = {Non-invasive molecular analysis of fetal DNA is the diagnostic goal of prenatal medicine. Circulating fetal DNA can be detected in maternal plasma. Recently, it has been detected in the urine of pregnant women. We hypothesize that fetal DNA is present also in maternal saliva and that advances in stabilization and isolation of nucleic acids from saliva enable non-invasive and repeated sampling for prenatal diagnostics. The hypothesis is testable using saliva samples of pregnant women with confirmed male fetuses. Y-specific sequences should be detectable in salivary DNA. Caution must be given to the prevention of contamination. If proved in large studies, the presence of fetal DNA fragments in maternal saliva would enable a wide range of applications in prenatal medicine. © 2009 Elsevier Ltd. All rights reserved.},

keywords = {Body fluids, Cell-free nucleic acids, Non-invasive prenatal testing, Prenatal diagnosis},

pubstate = {published},

tppubtype = {article}

}

@article{Vlková2010806,

title = {Testosterone and estradiol in maternal plasma and their relation to fetal sex},

author = {B Vlková and S Vávrová and T Szemes and G Minárik and J Turňa and P Celec},

url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-77955104417&doi=10.1002%2fpd.2535&partnerID=40&md5=6b4caf352bcd6bfd2674ead44ea48db1},

doi = {10.1002/pd.2535},

issn = {01973851},

year  = {2010},

date = {2010-01-01},

journal = {Prenatal Diagnosis},

volume = {30},

number = {8},

pages = {806-807},

keywords = {Fetal sex determination, Non-invasive prenatal testing, Prenatal diagnosis},

pubstate = {published},

tppubtype = {article}

}