Predicting Down syndrome and neural tube defects using basic risk factors

  • Momina T. KhattakEmail author
  • Eko Supriyanto
  • Muhammad N. Aman
  • Rania H. Al-Ashwal
Original Article


Congenital anomalies are not only one of the main killers for infants but also one of the major causes of deaths under 5. Among congenital anomalies, Down syndrome or trisomy 21 (T-21) and neural tube defects (NTDs) are considered the most common. Expectant mothers in developing countries may not have access to or may not afford the advanced prenatal screening tests. To solve this issue, this paper explores the practicality of using only the basic risk factors for developing prediction models as a tool for initial risk assessment. The prediction models are based on logistic regression. The results show that the prediction models do not have a high balanced classification rate. However, these models can still be used as an effective tool for initial risk assessment for T-21 and NTDs by eliminating at least 50% of the cases with no or low risk.

Graphical Abstract

Prenatal Risk Assessment of Trisomy-21 and Neural Tube Defects


Prenatal screening Prediction model Trisomy 21 Neural tube defects Logistic regression 



The authors would like to acknowledge the Universiti Teknologi Malaysia (UTM) for providing the facilities and environment for completion of this work.


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Copyright information

© International Federation for Medical and Biological Engineering 2019

Authors and Affiliations

  1. 1.School of Biomedical Engineering and Health SciencesUniversiti Teknologi MalaysiaJohorMalaysia
  2. 2.School of ComputingNational University of SingaporeSingaporeSingapore

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