The importance of biochemical and ultrasound markers in prenatal diagnosis: current methods and development perspectives
DOI:
https://doi.org/10.12775/QS.2025.42.61022Keywords
prenatal diagnosis, biochemical markers, ultrasound markers, PAPP-AAbstract
This paper explores the role of biochemical and ultrasound markers in prenatal diagnosis, emphasizing their importance in early detection of chromosomal and structural abnormalities in the fetus. It aims to characterize the most relevant diagnostic markers, evaluate the sensitivity and specificity of current methods, and discuss modern advancements such as non-invasive prenatal testing (NIPT). Biochemical and ultrasound markers remain fundamental tools in prenatal screening, providing crucial information for risk stratification and early intervention. The integration of traditional methods with advanced technologies such as NIPT offers a comprehensive approach to fetal health assessment. Continuous refinement of diagnostic algorithms and broader access to non-invasive testing are key directions for future development, aiming to improve both prenatal care quality and patient safety.
References
[1] Salomon LJ, Alfirevic Z, Audibert F, et al. ISUOG Clinical Standards Committee. ISUOG consensus statement on the impact of non-invasive prenatal testing (NIPT) on prenatal ultrasound practice. Z Geburtshilfe Neonatol. 2014; 218(6): 242–243, doi: 10.1055/s0034-1395670, indexed in Pubmed: 25518828.
[2] Norton, M. E., Jacobsson, B., Swamy, G. K., Laurent, L. C., Ranzini, A. C., Brar, H., ... & Musci, T. J. (2015). Cell-free DNA analysis for noninvasive examination of trisomy. New England Journal of Medicine, 372(17), 1589-1597.
[3] Lijuan Pan 1, Jiayu Wu 2, Desheng Liang 2, Jing Yuan 3, Jue Wang 4, Yinchen Shen 5, Junjie Lu 6, Aihua Xia 7, Jinchen Li 8, Lingqian Wu 9, 2023; Association analysis between chromosomal abnormalities and fetal ultrasonographic soft markers based on 15,263 fetuses
[4] International Society of Ultrasound in Obstetrics and Gynecology, Bilardo CM, Chaoui R, Hyett JA, Kagan KO, Karim JN, Papageorghiou AT, Poon LC, Salomon LJ, Syngelaki A, Nicolaides KH. 2023;61:127-143.
[5] Atypicality index: avoiding false reassurance in prenatal screening; Kristensen SE, Gadsbøll K, Nicolaides KH, Vogel I, Pedersen LH, Wright A, Petersen OB, Wright D. 2023;61:333-338
[6] Gwang Jun Kim, Ji Su Seong Jin A Oh; Prenatal screening for neural tube defects: from maternal serum alpha-fetoprotein to ultrasonography 2022 Dec 27;66(1):1–10.
[7] Yiming Chen, Wenwen Ning, Yezhen Shi, Yijie Chen, Wen Zhang, Liyao Li, Xiaoying Wang; Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring, 2023 Feb 21;18(2):e0281201
[8] Jean Guibourdenche, Marie-Clémence Leguy, Guillaume Pidoux, Marylise Hebert-Schuster, Christelle Laguillier, Olivia Anselem, Gilles Grangé, Fidéline Bonnet, Vassilis Tsatsaris; Biochemical Screening for Fetal Trisomy 21: Pathophysiology of Maternal Serum Markers and Involvement of the Placenta, 2023 Apr 21;24(8):7669
[9] Katarzyna Ziolkowska, Piotr Dydowicz, Maciej Sobkowski, Kinga Tobola-Wrobel, Ewa Wysocka, Marek Pietryga; The clinical usefulness of biochemical (free β-hCG, PAPP-A) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy, Ginekol Pol 2019;90(3):161-166.
[10] Siva Shantini Jayashankar, Muhammad Luqman Nasaruddin, Muhammad Faiz Hassan, Rima Anggrena Dasrilsyah, Mohamad Nasir Shafiee, Noor Akmal Shareela Ismail, Ekram Alias; Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges, and Future Directions, 2023 Aug 2;13(15):2570
[11] Malak Abedalthagafi, Shahad Bawazeer, Romy I Fawaz, A Merrihew Heritage, Nouf M Alajaji, Eissa Faqeih; Non-invasive prenatal testing: a revolutionary journey in prenatal testing, 2023 Nov 9:10:1265090
[12] Fabiana Savoia, Carolina Scala, Marlene Coppola, Gaetano Riemma, Salvatore Giovanni Vitale, Mislav Mikuš, Antonio Schiattarella, Marco La Verde, Nicola Colacurci, Pasquale De Franciscis, Maddalena Morlando; The diagnostic performance of the ductus venosus for the detection of cardiac defects in the first trimester: a systematic review and diagnostic test accuracy meta-analysis, 2023 Aug;308(2):435-451
[13] Dayna Whitcombe, Everett Magann, Susan Steelman, Zhuopei Hu, Songthip Ounpraseuth; Amniotic fluid volume and pregnancy outcomes in twin pregnancies: A systematic review and meta‐analysis, 2023 Sep 4;26(4):249–257
[14] Ulrike Friebe-Hoffmann, Larissa Dobravsky, Thomas W P Friedl, Wolfgang Janni, Alexander J Knippel, Hans J Siegmann, Peter Kozlowski; The femur too short? 1373 fetuses with short femur during second-trimester screening, 2022 Jan 11;306(4):1037–1044
[15] Hanna Moczulska, Maciej Borowiec, Piotr Sieroszewski; The use of cell free fetal DNA testing in the prenatal diagnosis based on the recommendation of Polish Gynecological Society and the Polish Society of Human Genetics — practical comments, Gin. Perinat. Prakt. 2016; 1, 1: 10–12
[16] Piotr Sieroszewski, Olga Haus, Mirosław Wielgoś, Anna Latos-Bielańska, Maciej Borowiec, Dariusz Borowski, Wojciech Cnota, Bartosz Czuba, Mariusz Dubiel, Lucjusz Jakubowski, Katarzyna Janiak, Piotr Kaczmarek, Sebastian Kwiatkowski, Beata Nowakowska, Marek Pietryga, Krzysztof Piotrowski, Krzysztof Preis, Mariola Ropacka-Lesiak, Maria M. Sąsiadek, Małgorzata Świątkowska-Freund, Piotr Węgrzyn, Agata Włoch, Hanna Moczulska; Rekomendacje Polskiego Towarzystwa Ginekologów i Położników oraz Polskiego Towarzystwa Genetyki Człowieka dotyczące badań przesiewowych oraz diagnostycznych badań genetycznych wykonywanych w okresie prenatalnym, Ginekologia i Perinatologia Praktyczna 2022;7(1):20-33
[17] Ximena Carolina Romero Infante, Montserrat Uriel, Alejandra Gutiérrez, María Fernanda Hernández, Andres Felipe Hernández, Laura Catalina Jiménez, Jeadran Nevardo Malagón-Rojas, Sara Rincón Franco; Behavior of the Genetic Markers at Screening during the First Trimester of Pregnancy in Euploid Fetuses, 2022 Jun 6;44(7):646–653
[18] Marek Pietryga, Kinga Toboła; Ultrasound prenatal diagnosis — 3D techniques capabilities, Gin. Perinat. Prakt. 2017; 2, 4: 143–154
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Copyright (c) 2025 Adam Torbicki, Piotr Gaworek, Michał Korpalski, Krzysztof Pawlikowski, Marek Żygłowicz, Dominik Augustyn, Maria Pawluczyk, Mateusz Marciniak, Alicja Trybuła
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