ArticlePloS one2010
Systematic identification of placental epigenetic signatures for the noninvasive prenatal detection of Edwards syndrome.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Cell-free placental DNA: What do we really know?PLoS genetics · 2024Review
- DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers.International journal of molecular sciences · 2023Review
- MeDIP Real-Time qPCR has the Potential for Noninvasive Prenatal Screening of Fetal Trisomy 21.International journal of molecular and cellular medicine · 2017Article
- Article
- Association of childhood chronic physical aggression with a DNA methylation signature in adult human T cells.PloS one · 2014Article
- Non-invasive prenatal testing of trisomy 18 by an epigenetic marker in first trimester maternal plasma.PloS one · 2013Article
- Non invasive prenatal diagnosis of aneuploidy: next generation sequencing or fetal DNA enrichment?Balkan journal of medical genetics : BJMG · 2012Article
- The signature of maternal rearing in the methylome in rhesus macaque prefrontal cortex and T cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012Article
- Discovery of epigenetic biomarkers for the noninvasive diagnosis of fetal disease.Prenatal diagnosis · 2012Article
- The secret language of destiny: stress imprinting and transgenerational origins of disease.Frontiers in genetics · 2012Article
- DNA-methylation profiling of fetal tissues reveals marked epigenetic differences between chorionic and amniotic samples.PloS one · 2012Article
- Non-invasive prenatal diagnosis of trisomy 21 by dosage ratio of fetal chromosome-specific epigenetic markers in maternal plasma.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2011Article
- Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met?Expert reviews in molecular medicine · 2011Review
- Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNoninvasive prenatal diagnosis of fetal aneuploidy by maternal plasma analysis is challenging owing to the low fractional and absolute concentrations of fetal DNA in maternal plasma. Previously, we demonstrated for the first time that fetal DNA in maternal plasma could be specifically targeted by epigenetic (DNA methylation) signatures in the placenta. By comparing one such methylated fetal epigenetic marker located on chromosome 21 with another fetal genetic marker located on a reference chromosome in maternal plasma, we could infer the relative dosage of fetal chromosome 21 and noninvasively detect fetal trisomy 21. Here we apply this epigenetic-genetic (EGG) chromosome dosage approach to detect Edwards syndrome (trisomy 18) in the fetus noninvasively. PRINCIPAL
findingsWe have systematically identified methylated fetal epigenetic markers on chromosome 18 by methylated DNA immunoprecipitation (MeDIP) and tiling array analysis with confirmation using quantitative DNA methylation assays. Methylated DNA sequences from an intergenic region between the VAPA and APCDD1 genes (the VAPA-APCDD1 DNA) were detected in pre-delivery, but not post-delivery, maternal plasma samples. The concentrations correlated positively with those of an established fetal genetic marker, ZFY, in pre-delivery maternal plasma. The ratios of methylated VAPA-APCDD1(chr18) to ZFY(chrY) were higher in maternal plasma samples of 9 male trisomy 18 fetuses than those of 27 male euploid fetuses (Mann-Whitney test, P=0.029). We defined the cutoff value for detecting trisomy 18 fetuses as mean+1.96 SD of the EGG ratios of the euploid cases. Eight of 9 trisomy 18 and 1 of 27 euploid cases showed EGG ratios higher than the cutoff value, giving a sensitivity of 88.9% and a specificity of 96.3%.
conclusionsOur data have shown that the methylated VAPA-APCDD1 DNA in maternal plasma is predominantly derived from the fetus. We have demonstrated that this novel fetal epigenetic marker in maternal plasma is useful for the noninvasive detection of fetal trisomy 18.
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