Artificial intelligence in prenatal diagnosis: Down syndrome risk assessment with the power of gradient boosting-based machine learning algorithms.

Objective One of the most common chromosomal abnormalities seen during pregnancy is Down syndrome (Trisomy 21). To determine the risk of Down syndrome, first-trimester combined screening tests are essential. Using data from the first-trimester screening test, this study compares machine learning and...

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Publicado en:Turkish Journal of Obstetrics & Gynecology Vol. 22; no. 2; pp. 1 - 9
Autores principales: Yalçın, Emre, Koç, Tarık Kaan, Aslan, Serpil, Demir, Süleyman Cansun, Evrüke, İsmail Cüneyt, Sucu, Mete, Avan, Mesut, Uzay, Fatma İşlek
Formato: research tables/charts Journal Article
Publicado: Galenos Yayinevi Tic. LTD. STI Jun2025
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jun2025
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      pub: Galenos Yayinevi Tic. LTD. STI
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        10.4274/tjod.galenos.2025.83278
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        atl: Artificial intelligence in prenatal diagnosis: Down syndrome risk assessment with the power of gradient boosting-based machine learning algorithms.
      aug:
        au:
          Yalçın, Emre
          Koç, Tarık Kaan
          Aslan, Serpil
          Demir, Süleyman Cansun
          Evrüke, İsmail Cüneyt
          Sucu, Mete
          Avan, Mesut
          Uzay, Fatma İşlek
      sug:
        subj:
          Boosting Machine Learning Algorithms
          Prenatal Diagnosis
          Diagnosis, Computer Assisted
          Artificial Intelligence
          Down Syndrome Diagnosis
          Risk Assessment
          Human
          Male
          Female
          Turkiye
          Pregnancy
          Comparative Studies
          Descriptive Statistics
          Classification Algorithms
          Unnecessary Procedures
          Decision Making, Clinical
          Male
          Female
      ab: Objective One of the most common chromosomal abnormalities seen during pregnancy is Down syndrome (Trisomy 21). To determine the risk of Down syndrome, first-trimester combined screening tests are essential. Using data from the first-trimester screening test, this study compares machine learning and deep learning models to forecast the risk of Down syndrome. Materials and Methods Within the scope of the study, biochemical and biophysical data of 959 pregnant women who underwent first-trimester screening tests at Çukurova University Obstetrics and Gynecology Clinic between 2020-2024 were analyzed. After cleaning missing and erroneous data, various preprocessing and normalization techniques were applied to the final dataset consisting of 853 observations. Down syndrome risk prediction was performed using different machine learning models, and model performances were compared based on accuracy rates and other evaluation metrics. Results Experimental results show that the CatBoost model provides the highest success rate, with an accuracy rate of 95.31%. In addition, the XGBoost and LightGBM models exhibited high performance, with accuracy rates of 95.19% and 94.84%, respectively. The study also examines the effects of the class imbalance problem on model performance in detail and evaluates various strategies to reduce this imbalance. Conclusion The findings show that gradient boosting-based machine learning models have significant potential in Down syndrome risk prediction. This approach is expected to contribute to the reduction of unnecessary invasive tests and improve clinical decision-making processes by increasing the accuracy rate in prenatal screening processes. Future studies should aim to increase the generalization capacity of the model on larger data sets and to provide integration with different machine learning algorithms. Keywords:Down syndrome, first-trimester screening test, gradient boosting, machine learning, artificial intelligence, classification algorithms:
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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