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

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 re...

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Main Authors:	Zainuddin, Norafiza, Mohd. Ridah, Lailatul Jalilah, Abdul Ghafar, Nurul Fatehah, Roslani, Anna Liza, Ismail, Rozihan, Muhammad, Naznin
Format:	Conference or Workshop Item
Language:	English English
Published:	The International Institute of Knowledge Management (TIIKM) 2019
Subjects:	QH426 Genetics RG Gynecology and obstetrics
Online Access:	http://irep.iium.edu.my/74673/ http://irep.iium.edu.my/74673/ http://irep.iium.edu.my/74673/19/74673%20Fetal%20Down%20syndrome.pdf http://irep.iium.edu.my/74673/2/ZAINUDDIN%20ET%20AL._ICOPH2019-converted%20%281%29.pdf

id	iium-74673
recordtype	eprints
spelling	iium-746732020-01-09T04:10:16Z http://irep.iium.edu.my/74673/ Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio Zainuddin, Norafiza Mohd. Ridah, Lailatul Jalilah Abdul Ghafar, Nurul Fatehah Roslani, Anna Liza Ismail, Rozihan Muhammad, Naznin QH426 Genetics RG Gynecology and obstetrics 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. The International Institute of Knowledge Management (TIIKM) 2019 Conference or Workshop Item PeerReviewed application/pdf en http://irep.iium.edu.my/74673/19/74673%20Fetal%20Down%20syndrome.pdf application/pdf en http://irep.iium.edu.my/74673/2/ZAINUDDIN%20ET%20AL._ICOPH2019-converted%20%281%29.pdf 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. https://publichealthconference.co/publication-2018/
repository_type	Digital Repository
institution_category	Local University
institution	International Islamic University Malaysia
building	IIUM Repository
collection	Online Access
language	English English
topic	QH426 Genetics RG Gynecology and obstetrics
spellingShingle	QH426 Genetics RG Gynecology and obstetrics Zainuddin, Norafiza Mohd. Ridah, Lailatul Jalilah Abdul Ghafar, Nurul Fatehah Roslani, Anna Liza Ismail, Rozihan Muhammad, Naznin Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio
description	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.
format	Conference or Workshop Item
author	Zainuddin, Norafiza Mohd. Ridah, Lailatul Jalilah Abdul Ghafar, Nurul Fatehah Roslani, Anna Liza Ismail, Rozihan Muhammad, Naznin
author_facet	Zainuddin, Norafiza Mohd. Ridah, Lailatul Jalilah Abdul Ghafar, Nurul Fatehah Roslani, Anna Liza Ismail, Rozihan Muhammad, Naznin
author_sort	Zainuddin, Norafiza
title	Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio
title_short	Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio
title_full	Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio
title_fullStr	Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio
title_full_unstemmed	Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio
title_sort	fetal down syndrome: determining the risk based on fetal-specific dna methylation ratio
publisher	The International Institute of Knowledge Management (TIIKM)
publishDate	2019
url	http://irep.iium.edu.my/74673/ http://irep.iium.edu.my/74673/ http://irep.iium.edu.my/74673/19/74673%20Fetal%20Down%20syndrome.pdf http://irep.iium.edu.my/74673/2/ZAINUDDIN%20ET%20AL._ICOPH2019-converted%20%281%29.pdf
first_indexed	2023-09-18T21:45:41Z
last_indexed	2023-09-18T21:45:41Z
_version_	1777413433747046400

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

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