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Early Prenatal Diagnosis of Down’s Syndrome-A Machine Learning Approach

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Soft Computing for Problem Solving

Part of the book series: Advances in Intelligent Systems and Computing ((AISC,volume 1048))

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Abstract

A chromosomal disorder called Down’s syndrome is a disorder where the disability is seen at the intellectual level. It further shows up a prominent change in the appearance of the face, and often accompanied by an unhealthy muscle tone during infancy. Trisomy-21 is the cause of such conditions in many cases. This research article focuses to improve the quality of health care by using smart technologies. A smart healthcare system that is based on the use of machine learning methods in the detection of presence of trisomy-21 disorder in a fetus is implemented. The system is trained using medical data consisting of a well-defined set of features. The feature set consists of features representing both maternal and fetal data. The proposed Down Syndrome Detection (DSD) system produces better accuracy in terms of precision, recall, and F-measure in classifying an unknown test sample.

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References

  1. Ramakrishnan, U., Grant, F., Goldenberg, T., Zongrone, A., Martorell, R.: Effect of women’s nutrition before and during early pregnancy on maternal and infant outcomes: a systematic review. Paediatr. Perinat. Epidemiol. 26(Suppl. 1), 285–301 (2012)

    Article  Google Scholar 

  2. Christianson, A., Howson, C.P., Modell, B.: The hidden toll of dying and disabled children, March of Dimes, Global report on birth defects (2006)

    Google Scholar 

  3. Steingass, K.J., Chicoine, B., McGuire, D., Roizen, N.J.: Developmental disabilities grown up: down syndrome. J. Dev. Behav. Pediatr. 32(7), 548–558 (2011)

    Article  Google Scholar 

  4. Gupta, S., Arora, S., Trivedi, S.S., Singh, R.: Dyslipidemia in pregnancy may contribute to increased risk of neural tube defects—a pilot study in north Indian population. Indian J. Chem. Biochem. 24(2), 150–154 (2009)

    Article  Google Scholar 

  5. de Graaf, G., Buckley, F., Skotko, B.G.: Estimates of the live births, natural losses, and elective terminations with down syndrome in the United States. Am J Med Genet A. 167A(4), 756–767 (2015)

    Article  Google Scholar 

  6. Parker, S.E., Mai, C.T., Canfield, M.A., Rickard, R.: Updated national birth prevalence estimates for selected birth defects in the United States. Birth Defects Res. J. 88(12), 1008–1016 (2010)

    Google Scholar 

  7. Schieve, L.A., Boulet, S.L., Kogan, M.D., Van Naarden-Braun, K., Boyle, C.A.: A population-based assessment of the health, functional status, and consequent family impact among children with Down syndrome. Disabily Health J. 4(2), 68–77 (2011)

    Article  Google Scholar 

  8. Prevention and control of birth defects in South-East Asia region. Strategic Framework. World Health Organization. 2013–2017

    Google Scholar 

  9. Sood, M., Agarwal, N., Verma, S., Bhargava, S.K.: Neural tubal defects in an east Delhi hospital. Indian J. Pediatr. 58, 363–365 (1991)

    Article  Google Scholar 

  10. Birth defects in South-East Asia, a public health challenge, situational analysis, World Health Organization (2013)

    Google Scholar 

  11. Grover, N.: Congenital malformations in Shimla. Indian J. Pediatr. 67(4), 249–251 (2000)

    Article  Google Scholar 

  12. Bhide, P., Sagoo, G.S., Moorthie, S., Burton, H., Kar, A.: Systematic review for birth prevalence of neural tube defects in India. Birth Defects Res. (Part A) 97, 437–443 (2013)

    Article  Google Scholar 

  13. Sharma, J.B., Gula, N.: Potential relationship between dengue fever and neural tube defects in a northern district of India. Int. J. Gynecol. Obstetrics. 39, 291–295 (1992)

    Article  Google Scholar 

  14. Cherian, A., Seena, S., Bullock, R.K., Antony, A.C.: Incidence of neural tube defects in the least developed area of India: a population based study. Lancet 366, 930–931 (2005)

    Article  Google Scholar 

  15. UNCTAD secretariat.: Issues Paper On Smart Cities and Infrastructure United Nations Commission on Science and Technology for Development, Inter-sessional Panel (2016)

    Google Scholar 

  16. Verma, M., Chhatwal, J., Singh, D.: Congenital malformations- a retrospective study of 10,000 cases. Indian J. Pediatr. 58, 245–252 (1991)

    Article  Google Scholar 

  17. Higuera, C., Gardiner, K.J., Cios, K.J.: Self-Organizing feature maps Identify proteins critical to learning in a mouse model of down syndrome. PLOS ONE (2015)

    Google Scholar 

  18. Chavez-Alvarez, R, Chavoya, A., Mendez-Vazquez, A.: Discovery of possible gene relationships through the application of self-organizing maps to DNA microarray databases. PLoS One 9(4) (2014)

    Article  Google Scholar 

  19. Sharma, R., Birth defects in India: hidden truth, need for urgent attention. Indian J. Hum. Genet. 19(2), 125–129 (2013)

    Article  Google Scholar 

  20. Boehringer, S., Guenther, M., Sinigerova, S., Wurtz, R.P., Horsthemke, B., Wieczorek, D.: Automated syndrome detection in a set of clinical facial photographs. Am. J. Med. Genet. (2011)

    Google Scholar 

  21. El-Qawasmeh, E.: Categorizing received email to improve delivery. Int. J. Comput. Syst. Sci. Eng. 26(2) (2011)

    Google Scholar 

  22. Phyu, T.N.: Survey of classification techniques in data mining. In: Proceedings of the International Multi-Conference of Engineers and Computer Scientists International Association of Engineers, pp. 727–731 (2009)

    Google Scholar 

  23. Anyanwu M.N., Shiva, S.G.: Comparative analysis of serial decision tree classification algorithms. Int. J. Comput. Sci. Secur. (IJCSS) 3(3) 231

    Google Scholar 

  24. Hannah, E., Mukherjee, S.: A classification based summarization (CBS) model for summarizing text documents. Int. J. Inf. Commun. Technol. 6(3/4) (2014)

    Google Scholar 

  25. Çelik, E., İlhan, H.O., lbir, A.: Detection and estimation of down syndrome genes by machine learning techniques. In: Signal Processing and Communications, Applications Conference (SIU) (2017)

    Google Scholar 

  26. Yong, S.P., Abidin, A.I.Z., Chen, Y.Y.: A Neural Based Text Summarization System, In: Proceedings of the 6th International Conference of DATA MINING (2005)

    Google Scholar 

  27. Chen, J., Chen, D., Lemon, O., A feature-based detection and tracking system for gaze and smiling behaviors. Int. J. Comput. Syst. Sci. & Eng. 26(3) (2011)

    Google Scholar 

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Correspondence to Esther Hannah .

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Hannah, E., Raamesh, L., Sumathi (2020). Early Prenatal Diagnosis of Down’s Syndrome-A Machine Learning Approach. In: Das, K., Bansal, J., Deep, K., Nagar, A., Pathipooranam, P., Naidu, R. (eds) Soft Computing for Problem Solving. Advances in Intelligent Systems and Computing, vol 1048. Springer, Singapore. https://doi.org/10.1007/978-981-15-0035-0_37

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