Please use this identifier to cite or link to this item: http://ir.juit.ac.in:8080/jspui/jspui/handle/123456789/5755
Title: Analysis of Non Invasive Prenatal Genetic Testing in Europe Market
Authors: Kapoor, Shivangi
Hanjura, Shivani [Guided by]
Keywords: Prenatal genetic screening
Prenatal genetic
Europe market
Microdeletions
Issue Date: 2019
Publisher: Jaypee University of Information Technology, Solan, H.P.
Abstract: Prenatal genetic screening is done to know whether the fetus might have any genetic abnormality. Prenatal genetic tests include both screening and diagnosis test. Screening test lets us know the risk of the fetus having any genetic abnormality. If the results for screening tests conclude positive, it is important to take a diagnostic test for the particular genetic abnormality. These tests are of invasive as well as non-invasive methods. This report focuses on the noninvasive technology. Non- invasive genetic screening tests includephysical fetal examination using medical imaging technology as well as Non-invasive prenatal test (NIPT). NIPT requires analysis of fetal cfDNA found in the mother’s blood. The fetal genetic disorders include chromosomal aneuploidies such as trisomy (presence of extra chromosome and monosomy (missing chromosome). The most common genetic abnormality is trisomy of chromosome number 21 which results in Downs’s syndrome. Other genetic disorders may include mutation in a single gene which may be heredity or caused by environmental factors. NIPT was initially used to screen Down’s syndrome. It is also used to screen trisomy of chromosome 18, Edward’s Syndrome and chromosome 13, Patau Syndrome. This technology has now advanced to screen for sex chromosome aneuploidies and selected microdeletions. The NIPT test today is now used to screen for the following chromosomal abnormalities.
Description: Dual Degree
URI: http://ir.juit.ac.in:8080/jspui//xmlui/handle/123456789/5755
Appears in Collections:Dissertations (M.Tech.)

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