Comment on “MeDIP real‐time qPCR of maternal peripheral blood reliably identifies trisomy 21”

Han, Qin; Bonifacio, Michael; McArthur, Steven J.; McLennan, Andrew; Boogert, Tom; Bowman, Mark A.

doi:10.1002/pd.4028

Cited by 1 publication

(1 citation statement)

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“…More importantly, the results of our studies have been reproduced by two independent groups, which have reported their results using the MeDIP-qPCR methodology and the published diagnostic formula [70,71]. In addition, independent groups have also commented positively on the potential prospects or application of the MeDIP-qPCR assay towards the NIPT of chromosomal aneuploidies.…”

Section: Implementation Of Methyl-biomarkers In Niptsupporting

confidence: 62%

The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis

Papageorgiou

Koumbaris

Kypri³

et al. 2014

Genes

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Epigenetic modifications have proven to play a significant role in cancer development, as well as fetal development. Taking advantage of the knowledge acquired during the last decade, great interest has been shown worldwide in deciphering the fetal epigenome towards the development of methylation-based non-invasive prenatal tests (NIPT). In this review, we highlight the different approaches implemented, such as sodium bisulfite conversion, restriction enzyme digestion and methylated DNA immunoprecipitation, for the identification of differentially methylated regions (DMRs) between free fetal DNA found in maternal blood and DNA from maternal blood cells. Furthermore, we evaluate the use of selected DMRs identified towards the development of NIPT for fetal chromosomal aneuploidies. In addition, we perform a comparison analysis, evaluate the performance of each assay and provide a comprehensive discussion on the potential use of different methylation-based technologies in retrieving the fetal methylome, with the aim of further expanding the development of NIPT assays.

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Section: Implementation Of Methyl-biomarkers In Niptsupporting

confidence: 62%