Determination of Optimal Detection Time Window and Error Analysis for Male Fetal Non-Invasive Prenatal Testing Based on K-Means Clustering and Particle Swarm Optimization

Authors

  • Yan Li

DOI:

https://doi.org/10.62051/ijphmr.v6n2.04

Keywords:

NIPT, Risk Optimization, K-Means Clustering, PSO, Detection Time Window

Abstract

To address the issue that unreasonable timing of non-invasive prenatal testing (NIPT) increases detection risks, this study constructed a risk optimization model to determine the optimal NIPT time window for male fetuses. Taking gestational age and BMI as optimization variables, the study integrated the time-related risk from exponential fitting and the accuracy-related risk from density estimation, determined weights using the Analytic Hierarchy Process (AHP), and further established a total risk function. Pregnant women were divided into four groups by BMI via K-means clustering, and the Particle Swarm Optimization (PSO) algorithm was employed to solve the model. The results showed that: the optimal gestational ages corresponding to BMI ranges [26.6, 30.2), [30.2, 33.8), [33.8, 37.5), and [37.5, 46.9] were 11.85 weeks, 13.22 weeks, 15.78 weeks, and 19.33 weeks, respectively, indicating that the higher the BMI, the later the optimal detection time. Finally, an analysis of ±5% and ±10% concentration errors revealed that negative errors delay the optimal time point and reduce risks, while positive errors advance the time point and increase risks—with the high BMI groups being more significantly affected. This study provides a basis for personalized clinical testing.

References

[1] Xie Z H. Application of Non-invasive Prenatal Testing (NIPT) in Prenatal Screening for Chromosomal Diseases in Fetuses from Assisted Reproduction and Natural Pregnancy [D]. Lanzhou University, 2025.

[2] Li Q M. Exploratory Study on the Clinical Application of Targeted Capture Sequencing Technology Based on Maternal Plasma cffDNA for Non-invasive Prenatal Testing of Bart Hydrops Fetalis [D]. Guangzhou Medical University, 2024.

[3] Devine, O., Walker, M., Jones, M., et al. (2025). Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk. PloS One, 15(6), e0234567.

[4] Zhang L, Wang J, Li N. Research Progress on Related Factors of Non-invasive Prenatal Testing (NIPT) Failure Caused by Low Fetal Cell-free DNA Concentration [J]. Chinese Journal of Perinatal Medicine, 2023, 26(10): 789-794.

[5] CHEN L, LIU H, WANG Y, et al. A Comprehensive Review of Artificial Intelligence-Driven Enhancements in Non-Invasive Prenatal Testing: Advancing Genomic Precision Through Deep Learning and Computational Genomics [J]. Frontiers in Genetics, 2025, 16: 897654.

[6] Kónya M, Czimbalmos Á, Éliás M, Tidrenczel Z, Kói T, Amorim das Virgens IP, Ács N, Nyirády P, Hegyi P, Várbíró S, Gál A. Discordant findings in genome-wide non-invasive prenatal testing (GW-NIPT) for rare chromosomal abnormalities, adverse pregnancy outcomes, and maternal malignancies: a systematic review and meta-analysis. Am J Obstet Gynecol. 2025 Nov 24: S0002-9378(25)00865-8.

[7] Chi J N, Yan L M. Analysis of Current Status of Grief and Its Influencing Factors in Pregnant Women Undergoing Termination of Pregnancy [J]. Maternal and Child Health Care of China, 2025, 40(15): 2835-2839.

[8] Dan C H. Study on the Application Efficacy of NIPT in Prenatal Screening and Prenatal Diagnosis of Purely Elderly Pregnant Women [D]. Chongqing Medical University, 2024.

[9] Ge S X. Clinical Application Value and Influencing Factors of NIPT in Detecting Rare Autosomal Aneuploidies and Microdeletion/Microduplication Syndromes [D]. Hebei Medical University, 2024.

[10] Menao Guillén S, Pedrola L, Orellana C, Roselló M, Arruebo M, Lahuerta Pueyo C, Sobreviela Laserrada M, Marcos B, Pascual Mancho J, Cervera JV, Tajada M, Quiroga R. Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies. Genes (Basel). 2025 Nov 7; 16(11): 1344.

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Published

28-02-2026

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Articles

How to Cite

Li, Y. (2026). Determination of Optimal Detection Time Window and Error Analysis for Male Fetal Non-Invasive Prenatal Testing Based on K-Means Clustering and Particle Swarm Optimization. International Journal of Public Health and Medical Research, 6(2), 33-39. https://doi.org/10.62051/ijphmr.v6n2.04