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Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio

Zainuddin, Norafiza and Mohd. Ridah, Lailatul Jalilah and Abdul Ghafar, Nurul Fatehah and Roslani, Anna Liza and Ismail, Rozihan and Muhammad, Naznin (2019) Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio. In: 5th International Conference on Public Health (ICOPH 2019), 10th-12th July 2019, Kuala Lumpur.

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Abstract

Non-invasive prenatal diagnosis has becoming popular in determining the risk of genetic abnormalities in unborn babies, particularly Down Syndrome (trisomy 21). In this research, methylated DNA immunoprecipitation (MeDIP)-real time quantitative PCR (qPCR) method based on differentially methylated regions (DMRs) or methylation differences between mother and fetus has been employed. Circulating cell free DNA (ccfDNA) was extracted from 28 plasma specimens of pregnant women recruited from January 2017 to February 2019 in Kuantan, Pahang. Seven out of 28 subjects were grouped as high risk (probable trisomy) cases referring to the nuchal translucency reading. The extracted ccfDNA was then sheared and subjected to MeDIP-qPCR. Three DMRs namely EP1, EP7 and EP10 were chosen from previous research to be analyzed, along with hypermethylated and hypomethylated controls. At the moment, Cq values have been obtained for a number of samples and normalization of the raw data will be carried out as normalization of PCR reactions and normalization based on the real-time qPCR primer’s efficiency. The non-invasive prenatal detection of trisomy 21 will be achieved by determining the methylation ratio of normal and trisomy 21 cases for each tested fetal-specific DMR present in the maternal peripheral blood, followed by further statistical analysis. It is hoped that by the end of this study, the risk of fetal Down syndrome can be confirmed and tabulated for all high risk samples.

Item Type: Conference or Workshop Item (Slide Presentation)
Additional Information: 4623/74673
Uncontrolled Keywords: Down syndrome, trisomy 21, non-invasive, ccfDNA, MeDIP-PCR, DMR
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RG Gynecology and obstetrics
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): Kulliyyah of Allied Health Sciences
Kulliyyah of Allied Health Sciences > Department of Biomedical Science (Effective:1st July 2011)
Depositing User: Dr. Norafiza Zainuddin
Date Deposited: 27 Nov 2019 08:58
Last Modified: 09 Jan 2020 12:10
URI: http://irep.iium.edu.my/id/eprint/74673

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