Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma

Introduction: Down syndrome is a predominant genetic disease with an incident rate of one in every 750 live births. This abnormality can be identified through non-invasive and invasive procedures. Currently, the use of cell-free fetal DNA (cfDNA) from maternal plasma is widely implemented as one of...

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Main Authors:	Abdul Ghafar, Nurul Fatehah, Muhammad, Siti Aesah @ Naznin, A. Talib, Norlelawati, Roslani, Anna Liza, Ismail, Rozihan, Zainuddin, Norafiza
Format:	Conference or Workshop Item
Language:	English English
Published:	2019
Subjects:	QH426 Genetics RG Gynecology and obstetrics
Online Access:	http://irep.iium.edu.my/77018/ http://irep.iium.edu.my/77018/2/SLIDE%20PPT%20_taylor.pdf http://irep.iium.edu.my/77018/13/77018%20Non-invasive%20prenatal%20testing.pdf

id	iium-77018
recordtype	eprints
spelling	iium-770182020-01-08T08:02:08Z http://irep.iium.edu.my/77018/ Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma Abdul Ghafar, Nurul Fatehah Muhammad, Siti Aesah @ Naznin A. Talib, Norlelawati Roslani, Anna Liza Ismail, Rozihan Zainuddin, Norafiza QH426 Genetics RG Gynecology and obstetrics Introduction: Down syndrome is a predominant genetic disease with an incident rate of one in every 750 live births. This abnormality can be identified through non-invasive and invasive procedures. Currently, the use of cell-free fetal DNA (cfDNA) from maternal plasma is widely implemented as one of the alternatives for non-invasive prenatal screening. However, due to the high cost, the test is mainly offered in private healthcare settings. Aim: The aim of this study was to verify the reliability of using methylated DNA immunoprecipitation (MeDIP) on fetal DNA for trisomy 21 detection. Methods: cfDNA was isolated from 21 pregnant women, consisted of 19 normal and two confirmed trisomy 21 pregnancies. The extracted cfDNAs were fragmented, immunoprecipitated and quantified by real-time qPCR for three specific methylation markers or differentially methylated region (DMR) at chromosome 21. Then, the methylation ratio values of the normal and trisomy 21 cases for each DMR were compared to assess the level of discrimination of the markers. The Mann-Whitney U test was used to determine the statistical significance of each DMR. Results: No clear separation was found between normal and trisomy cases using all three DMRs. Discussion and conclusion: MeDIP methods have been adopted into our study based on its reported sensitivity and specificity, with slight modifications. However, the results indicated that the markers or DMRs were unable to discriminate the status of our samples (either normal or trisomy 21) which might be attributed to the insufficient number of trisomy 21 samples. Hence, a larger number of cases were necessary to verify and validate this approach. 2019 Conference or Workshop Item NonPeerReviewed application/pdf en http://irep.iium.edu.my/77018/2/SLIDE%20PPT%20_taylor.pdf application/pdf en http://irep.iium.edu.my/77018/13/77018%20Non-invasive%20prenatal%20testing.pdf Abdul Ghafar, Nurul Fatehah and Muhammad, Siti Aesah @ Naznin and A. Talib, Norlelawati and Roslani, Anna Liza and Ismail, Rozihan and Zainuddin, Norafiza (2019) Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma. In: Graduate Research Symposium 2019, Subang Jaya, Selangor. (Unpublished)
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 Abdul Ghafar, Nurul Fatehah Muhammad, Siti Aesah @ Naznin A. Talib, Norlelawati Roslani, Anna Liza Ismail, Rozihan Zainuddin, Norafiza Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma
description	Introduction: Down syndrome is a predominant genetic disease with an incident rate of one in every 750 live births. This abnormality can be identified through non-invasive and invasive procedures. Currently, the use of cell-free fetal DNA (cfDNA) from maternal plasma is widely implemented as one of the alternatives for non-invasive prenatal screening. However, due to the high cost, the test is mainly offered in private healthcare settings. Aim: The aim of this study was to verify the reliability of using methylated DNA immunoprecipitation (MeDIP) on fetal DNA for trisomy 21 detection. Methods: cfDNA was isolated from 21 pregnant women, consisted of 19 normal and two confirmed trisomy 21 pregnancies. The extracted cfDNAs were fragmented, immunoprecipitated and quantified by real-time qPCR for three specific methylation markers or differentially methylated region (DMR) at chromosome 21. Then, the methylation ratio values of the normal and trisomy 21 cases for each DMR were compared to assess the level of discrimination of the markers. The Mann-Whitney U test was used to determine the statistical significance of each DMR. Results: No clear separation was found between normal and trisomy cases using all three DMRs. Discussion and conclusion: MeDIP methods have been adopted into our study based on its reported sensitivity and specificity, with slight modifications. However, the results indicated that the markers or DMRs were unable to discriminate the status of our samples (either normal or trisomy 21) which might be attributed to the insufficient number of trisomy 21 samples. Hence, a larger number of cases were necessary to verify and validate this approach.
format	Conference or Workshop Item
author	Abdul Ghafar, Nurul Fatehah Muhammad, Siti Aesah @ Naznin A. Talib, Norlelawati Roslani, Anna Liza Ismail, Rozihan Zainuddin, Norafiza
author_facet	Abdul Ghafar, Nurul Fatehah Muhammad, Siti Aesah @ Naznin A. Talib, Norlelawati Roslani, Anna Liza Ismail, Rozihan Zainuddin, Norafiza
author_sort	Abdul Ghafar, Nurul Fatehah
title	Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma
title_short	Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma
title_full	Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma
title_fullStr	Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma
title_full_unstemmed	Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma
title_sort	non-invasive prenatal testing: medip-pcr to detect trisomy 21 from maternal plasma
publishDate	2019
url	http://irep.iium.edu.my/77018/ http://irep.iium.edu.my/77018/2/SLIDE%20PPT%20_taylor.pdf http://irep.iium.edu.my/77018/13/77018%20Non-invasive%20prenatal%20testing.pdf
first_indexed	2023-09-18T21:48:43Z
last_indexed	2023-09-18T21:48:43Z
_version_	1777413625002065920

Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma

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