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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| Format: | Proceeding Paper |
| Language: | English English |
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2019
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| 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 |
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| author | Abdul Ghafar, Nurul Fatehah Muhammad, Siti Aeshah @ Naznin A. Talib, Norlelawati Roslani, Anna Liza Ismail, Rozihan Zainuddin, Norafiza |
| author_facet | Abdul Ghafar, Nurul Fatehah Muhammad, Siti Aeshah @ Naznin A. Talib, Norlelawati Roslani, Anna Liza Ismail, Rozihan Zainuddin, Norafiza |
| author_sort | Abdul Ghafar, Nurul Fatehah |
| building | IIUM Repository |
| collection | Online Access |
| 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. |
| first_indexed | 2025-11-14T17:39:48Z |
| format | Proceeding Paper |
| id | iium-77018 |
| institution | International Islamic University Malaysia |
| institution_category | Local University |
| language | English English |
| last_indexed | 2025-11-14T17:39:48Z |
| publishDate | 2019 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | iium-770182022-04-07T01:53:57Z 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 Aeshah @ 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 Proceeding Paper 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 Aeshah @ 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) |
| spellingShingle | QH426 Genetics RG Gynecology and obstetrics Abdul Ghafar, Nurul Fatehah Muhammad, Siti Aeshah @ Naznin A. Talib, Norlelawati Roslani, Anna Liza Ismail, Rozihan Zainuddin, Norafiza Non-invasive prenatal testing: MeDIP-PCR to detect trisomy 21 from maternal plasma |
| title | 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_short | 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 |
| topic | QH426 Genetics RG Gynecology and obstetrics |
| 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 |