Development and Clinical Implementation of a Digital PCR-Based Method for Non-Invasive Prenatal Test of Trisomy 21 in Mongolia

Khaliunaa Tuvshinjargal; Gerelsuren Batbayar; Nomuun Oyunbat; Dolgion Damdinbazar; Jamiyan Purevsuren; Tuul Bayarsaikhan; Sansar Gombodorj; Altantsetseg Buriad; Gantulga Davaakhuu

doi:10.2991/978-94-6463-837-0_13

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Development and Clinical Implementation of a Digital PCR-Based Method for Non-Invasive Prenatal Test of Trisomy 21 in Mongolia

Authors

Khaliunaa Tuvshinjargal¹, Gerelsuren Batbayar¹, Nomuun Oyunbat¹, Dolgion Damdinbazar¹, Jamiyan Purevsuren², Tuul Bayarsaikhan², Sansar Gombodorj³, Altantsetseg Buriad³, Gantulga Davaakhuu¹^{, *}

¹Laboratory of Molecular Biology, Institute of Biology, Mongolian Academy of Sciences, Ulaanbaatar, Mongolia

²Laboratory of Medical Genetics, National Center for Maternal and Child Health of Mongolia, Ulaanbaatar, Mongolia

³Department of Outpatient Clinic, National Center for Maternal and Child Health of Mongolia, Ulaanbaatar, Mongolia

^*Corresponding author. Email: gantulgad@mas.ac.mn

Corresponding Author

Gantulga Davaakhuu

Available Online 17 September 2025.

DOI: 10.2991/978-94-6463-837-0_13 How to use a DOI?
Keywords: NIPT; Fetal aneuploidy; cffDNA; fetal fraction; dPCR
Abstract: Mongolia faces challenges in the prenatal diagnosis of trisomy conditions, resulting in increased late-term terminations, especially for Down syndrome. There is a need for improved and more specific diagnostic methods, including digital PCR-based NIPT. To address the lack of localized validation for droplet digital PCR (ddPCR)-based non-invasive prenatal testing (NIPT) in Mongolia, this study evaluated the analytical performance and clinical feasibility of a ddPCR assay for detecting fetal trisomy 21 (T21) using maternal plasma samples. A total of 70 maternal plasma samples were analyzed using a ddPCR assay targeting the chromosome 21 to chromosome 1 (Chr21/Chr1) ratio. A population-specific baseline ratio (0.9880) and z-score cut-off (≥3) were established using a training set of 40 euploid and 3 T21 samples. The assay was then validated in a blinded cohort of 25 high-risk pregnancies, with results confirmed by invasive diagnostic methods (chorionic villus sampling or amniocentesis). The assay demonstrated 100% sensitivity and specificity, accurately classifying all four T21 and 21 euploid cases. Its cost-effectiveness, rapid turnaround time, and minimal infrastructure requirements support its potential for routine prenatal screening in Mongolia. Further validation in larger, more diverse cohorts and expansion to additional aneuploidies will enhance its clinical impact.
Copyright: © 2025 The Author(s)
Open Access: Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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Volume Title: Proceedings of the International Biological Conference in Mongolia 2025 (IBCM 2025)
Series: Advances in Biological Sciences Research
Publication Date: 17 September 2025
ISBN: 978-94-6463-837-0
ISSN: 2468-5747
DOI: 10.2991/978-94-6463-837-0_13 How to use a DOI?
Open Access: Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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ris enw bib

TY  - CONF
AU  - Khaliunaa Tuvshinjargal
AU  - Gerelsuren Batbayar
AU  - Nomuun Oyunbat
AU  - Dolgion Damdinbazar
AU  - Jamiyan Purevsuren
AU  - Tuul Bayarsaikhan
AU  - Sansar Gombodorj
AU  - Altantsetseg Buriad
AU  - Gantulga Davaakhuu
PY  - 2025
DA  - 2025/09/17
TI  - Development and Clinical Implementation of a Digital PCR-Based Method for Non-Invasive Prenatal Test of Trisomy 21 in Mongolia
BT  - Proceedings of the International Biological Conference in Mongolia 2025 (IBCM 2025)
PB  - Atlantis Press
SP  - 187
EP  - 198
SN  - 2468-5747
UR  - https://doi.org/10.2991/978-94-6463-837-0_13
DO  - 10.2991/978-94-6463-837-0_13
ID  - Tuvshinjargal2025
ER  -

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