Intelligent Noninvasive Diagnosis of Aneuploidy: Raw Values and Highly Imbalanced Dataset

IEEE J Biomed Health Inform. 2017 Sep;21(5):1271-1279. doi: 10.1109/JBHI.2016.2608859. Epub 2016 Dec 22.


The objective of this paper is to introduce a noninvasive diagnosis procedure for aneuploidy and to minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propose a method by using artificial neural networks trained with data from singleton pregnancy cases, while undergoing first trimester screening. Three different datasets1 with a total of 122 362 euploid and 967 aneuploid cases were used in this study. The data for each case contained markers collected from the mother and the fetus. This study, unlike previous studies published by the authors for a similar problem differs in three basic principles: 1) the training of the artificial neural networks is done by using the markers' values in their raw form (unprocessed), 2) a balanced training dataset is created and used by selecting only a representative number of euploids for the training phase, and 3) emphasis is given to the financials and suggest hierarchy and necessity of the available tests. The proposed artificial neural networks models were optimized in the sense of reaching a minimum false positive rate and at the same time securing a 100% detection rate for Trisomy 21. These systems correctly identify other aneuploidies (Trisomies 13&18, Turner, and Triploid syndromes) at a detection rate greater than 80%. In conclusion, we demonstrate that artificial neural network systems can contribute in providing noninvasive, effective early screening for fetal aneuploidies with results that compare favorably to other existing methods.

MeSH terms

  • Aneuploidy*
  • Biomarkers / blood
  • Computational Biology
  • Databases, Factual
  • Down Syndrome / diagnosis
  • Female
  • Humans
  • Machine Learning*
  • Models, Statistical*
  • Neural Networks, Computer
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Ultrasonography, Prenatal


  • Biomarkers