![]() Prenatal Screening of Down syndrome involves screening as well as diagnosis tests. 5 The likelihood of having a child with Down Syndromeincreases with increasing maternal age. No specific reasons for this disorder has been reported so far other than the maternal age. Inmosaicism not all the cells will have an extra chromosome and translocation happens when a whole or extra copy of chromosome occurs getting attached to another chromosome. The most common one which occurs in about 95% of the cases is complete Trisomy 21 in which all the cells possess an extra copy of the chromosome 21. 4 There are three types of Trisomy21 which are complete Trisomy 21, mosaicism and translocation. The prevalence of Down syndrome is approximated to be about 1 in 1000 births worldwide. This condition is termed as Down Syndrome.The British Doctor, John Langdon Down described the syndrome in 1866 and hence the name. In few cases 47 chromosomes may be present in each cell instead of 46. Usually an individual possess 46 chromosomes, 23 inherited from the father and 23 from the mother. Available from: ĭown Syndrome is one of the predominantchromosomal disorder caused by the presence of an extra copy of the 21 st chromosome. A Review on Techniques for Computer Aided Diagnosis of Soft Markers for Detection of Down Syndrome in Ultrasound Fetal Images. These markers have been utilized by researchers for design of Secondary Observer systems and have achieved various degrees of accuracies.Īccuracy Down Syndrome Markers Nasal Bone Length Nuchal TranslucencySecondary Observer Systems Specificity Sensitivity ĭownload this article as: Copy the following to cite this article: Markers for study include Nasal Bone Length, Nuchal Translucency Thickness, and Naso Frontal Angle. The parameters for comparison include Markers for Down Syndrome Detection, Algorithms, Sensitivity, Specificity and accuracy of these algorithms. 50papers from 1982 to 2016 has been reviewed and the consolidated study is being presented. In this paper, various algorithms and techniques, which aids in development of secondary observer systems for Downsyndrome detection in fetus of first and second trimester is being evaluated and presented. B 3ġNoorul Islam University, Kumarakoil, Thuckalay, India.ĢDirector(Administration), Noorul Islam University, Kumarakoil, Thuckalay, IndiaģEranad Knowledge City, Manjeri, Malappuram, Kerala. Ultrasound is just a screening test and cannot diagnose Down syndrome or other chromosome abnormalities.Jeba Shiney 1, O. The best way to tell if your baby has an underlying chromosome abnormality is to have a prenatal diagnostic test such as a chorionic villi sampling (CVS) test or amniocentesis.Įven if one of these markers is seen during your ultrasound, it is important to remember that most babies found to have one of these markers turn out to be perfectly healthy babies with no underlying chromosome abnormalities. The next step is also a discussion on what further prenatal testing you may want to consider. ![]() If one ore more of these markers are found on the sonogram your doctor usually talks to you to determine your risk of having a baby with a chromosome abnormality. Dilatation of the kidneys (pyelectasis).Thickened nuchal fold ( nuchal translucency).The following are ultrasound markers that are seen more frequently in fetuses with Down syndrome: Markers are findings that, in and of themselves, won’t cause the baby any problems but might indicate that the baby has an increased risk of having an underlying chromosome abnormality. ![]() However, ultrasound is often used as a screening test for Down syndrome and other chromosome abnormalities.Ĭertain findings (sometimes called soft markers) on ultrasound may make your doctor more suspicious that your baby may have Down syndrome. The ultrasound examination cannot diagnose a fetus with Down syndrome with certainty. Many but not all fetuses with Down syndrome have one or more so-called 'markers' on ultrasound. Over the last decade, new technology has improved the methods of detection of fetal abnormalities, including Down syndrome.
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