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Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR by Marios Ioannides; Achilleas Achilleos; Skevi Kyriakou; Elena Kypri; Charalambos Loizides; Kyriakos Tsangaras; Louiza Constantinou; George Koumbaris; Philippos C. Patsalis is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
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## Abstract ## Background Non‐invasive prenatal testing (NIPT) for fetal aneuploidies has rapidly been incorporated into clinical practice. Current NGS‐based methods can reliably detect fetal aneuploidies non‐invasively with fetal fraction of at least 4%. Inaccurate fetal fraction assessment can compromise the accuracy of the test as affected samples with low fetal fraction have an increased risk for misdiagnosis. Using a novel set of fetal‐specific differentially methylated regions (DMRs) and methylation sensitive restriction digestion (MSRD), we developed a multiplex ddPCR assay for accurate detection of fetal fraction in maternal plasma. ## Methods We initially performed MSRD followed by methylation DNA immunoprecipitation (MeDIP) and NGS on fetal and non‐pregnant female tissues to identify fetal‐specific DMRs. DMRs with the highest methylation difference between the two tissues were selected for fetal fraction estimation employing MSRD and multiplex ddPCR. Chromosome Y multiplex ddPCR assay (YMM) was used as a reference standard, to develop our fetal fraction estimation model in male pregnancy samples. Additional 123 samples were tested to examine whether the model is sex depen
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It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Marios Ioannides; Achilleas Achilleos; Skevi Kyriakou; Elena Kypri; Charalambos Loizides; Kyriakos Tsangaras; Louiza Constantinou; George Koumbaris; Philippos C. Patsalis
- Published
- 2019
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)