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...
| Main Authors: | , , , , , |
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| Format: | Proceeding Paper |
| Language: | English English |
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The International Institute of Knowledge Management (TIIKM)
2019
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| Online Access: | 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 |
| _version_ | 1848787996241821696 |
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| author | Zainuddin, Norafiza Mohd. Ridah, Lailatul Jalilah Abdul Ghafar, Nurul Fatehah Roslani, Anna Liza Ismail, Rozihan Muhammad, Siti Aeshah @ Naznin |
| author_facet | Zainuddin, Norafiza Mohd. Ridah, Lailatul Jalilah Abdul Ghafar, Nurul Fatehah Roslani, Anna Liza Ismail, Rozihan Muhammad, Siti Aeshah @ Naznin |
| author_sort | Zainuddin, Norafiza |
| building | IIUM Repository |
| collection | Online Access |
| 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. |
| first_indexed | 2025-11-14T17:33:48Z |
| format | Proceeding Paper |
| id | iium-74673 |
| institution | International Islamic University Malaysia |
| institution_category | Local University |
| language | English English |
| last_indexed | 2025-11-14T17:33:48Z |
| publishDate | 2019 |
| publisher | The International Institute of Knowledge Management (TIIKM) |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | iium-746732022-04-06T02:20:09Z 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, Siti Aeshah @ 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 Proceeding Paper 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, Siti Aeshah @ 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/ |
| spellingShingle | QH426 Genetics RG Gynecology and obstetrics Zainuddin, Norafiza Mohd. Ridah, Lailatul Jalilah Abdul Ghafar, Nurul Fatehah Roslani, Anna Liza Ismail, Rozihan Muhammad, Siti Aeshah @ Naznin Fetal down syndrome: determining the risk based on fetal-specific DNA methylation ratio |
| title | 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_short | 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 |
| topic | QH426 Genetics RG Gynecology and obstetrics |
| 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 |