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:: Volume 6, Number 1 (Int J Mol Cell Med 2017) ::
Int J Mol Cell Med 2017, 6(1): 13-21 Back to browse issues page
MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21
Mohammad Kazemi1, Mansoor Salehi *2, Majid Kheirollahi3
1- Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
2- Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. , m_salehi@med.mui.ac.ir
3- Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Abstract:   (1867 Views)

This study aimed to verify the reliability of the 7 tissue differentially methylated regions used in the methylated DNA immunoprecipitation (MeDIP) real-time quantitative polymerase chain reaction (real-time qPCR) based approach of fetal DNA in maternal blood to diagnosis of fetal trisomy 21. Forty pregnant women with high risk pregnancy who were referred after first or second trimester screening tests, were selected randomly. For each sample whole DNA extraction (mother and fetus), fragmentation of DNA, immunoprecipitation of methylated DNA and real- time qPCR using 7 primer pairs, was performed. D-value for each sample was calculated using the following formula D= -4.908+ 0.254 XEP1+ 0.409 XEP4+ 0.793 XEP5+ 0.324 XEP6+ 0.505 XEP7+ 0.508 XEP9+ 0.691 XEP12. In all normal cases, D value was negative, while it was positive in all trisomy cases. Therefore, all normal and trisomy 21 cases were classified correctly which correspond to 100% specificity and 100% sensitivity for this method. The MeDIP real-time qPCR method has provided the opportunity for noninvasive prenatal diagnosis of fetal trisomy 21 to be potentially employed into the routine practice of diagnostic laboratories.

Keywords: Down syndrome, trisomy 21, prenatal diagnosis, cell-free fetal DNA, noninvasive prenatal testing, prenatal genetic screening
Full-Text [PDF 628 kb]   (920 Downloads)    
Type of Study: Original Article | Subject: Genetics & Disease
Received: 2016/12/31 | Accepted: 2017/02/1 | Published: 2017/02/15
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DOI: 10.22088/acadpub.BUMS.6.1.13


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Kazemi M, Salehi M, Kheirollahi M. MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21. Int J Mol Cell Med. 2017; 6 (1) :13-21
URL: http://ijmcmed.org/article-1-637-en.html
Volume 6, Number 1 (Int J Mol Cell Med 2017) Back to browse issues page
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
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