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Computational Intelligent Diagnostic System in Predicting Fetal Aneuploidies

Computational Intelligent Diagnostic System in Predicting Fetal Aneuploidies. Computational Intelligence Artificial neural networks Evolutionary systems / Genetic algorithms Artificial immune systems Fuzzy systems. Maternal age Previous trisomy Crown-rump length

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Computational Intelligent Diagnostic System in Predicting Fetal Aneuploidies

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  1. Computational Intelligent Diagnostic System in Predicting Fetal Aneuploidies • Computational Intelligence • Artificial neural networks • Evolutionary systems / Genetic algorithms • Artificial immune systems • Fuzzy systems • Maternal age • Previous trisomy • Crown-rump length • Gestational age • Nuchal translucency • Fetal heart rate • Free ß-hCG • PAPP-A • Nasal bone • Tricuspid flow • Ductus venosus flow Christos Schizas Kypros Nicolaides Andreas Neocleous Kleanthis Neokleous Natasa Schiza Costas Neocleous FMF, University of Cyprus, Cyprus University of Technology, Cyprus

  2. Artificial Neural Network Architecture Input(10 neurons) Age, previous trisomy, CRL, NT, FHR, ß-hCG, PAPP-A, NB, TR, DV (Linear activation) Hidden Layer 1 (80 neurons) (Logistic activation) Hidden Layer 2 (10 neurons) (Symmetric logistic activation) Hidden Layer 3 (80 neurons) (Logistic activation) Output Layer (5 neurons) Normal / Abnormal (Turner, T13,T18,T21) (Logistic activation) Computational Intelligent System in predicting fetal aneuploidies Objective: Employ computational intelligence to predict fetal aneuploidies All data: Total singleton pregnancies 34,182 Euploid 33,792 (98.8%) Aneuploidy 390 (1.2%) Trisomy 21 213 Trisomy 18 97 Trisomy 13 27 Triploidy 18 Turner syndrome 35 Data for training, simulations and validations: Training various artificial neural networks 26,000 Totally unknown cases used for validations 8,182

  3. Classification into EUPLOID – Trisomy 21 Classification into EUPLOID - ANEUPLOID Euploid Euploid Aneuploid Trisomy 21 ALL cases ALL cases 8,032 8,032 60 64 Predicted Correct Predicted Correct 8,017 (99.8%) 8,016 (99.8%) 64 (100%) 54 (90.0%) Classification into EUPLOID - T21 –T18 - T13 – Triploidy - Turner Normal Trisomy 21 Trisomy 18 Trisomy 13 Triploidy Turner ALL cases 4,521 4,482 21 10 3 2 3 Predicted Correct 4,505 (99.5%) 4,481 (99.98%) 18 (85.7%) 6 (60.0%) 0 0 0 Computational Intelligent System in predicting fetal aneuploidies Results on the unknown validation (verification) data set:

  4. Computational Intelligent System in predicting fetal aneuploidies Conclusions • There is a very good discrimination between Euploid and Aneuploid cases • There is a good discrimination between normal and Trisomy 21 cases • T13, Triploidy and Turner cases are hard to predict (mainly because of the small number of cases available for network training) Thank you

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