ArticlePloS one2012
Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Early non-invasive epigenetic approach for assessing trisomy risk in maternal plasma.Frontiers in medicine · 2026Article
- Article
- Diagnostic performance of the noninvasive prenatal FetoGnost RhD assay for the prediction of the fetal RhD blood group status.Archives of gynecology and obstetrics · 2021Article
- Dynamic Changes of Fetal-Derived Hypermethylated RASSF1A and Septin 9 Sequences in Maternal Plasma.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- HypermethylatedJCO precision oncology · 2020Article
- Article
- Cell Free Fetal DNA: Marker for Predicting Pregnancy Outcomes.Indian journal of clinical biochemistry : IJCB · 2017Article
- Whole Genome Amplification of Day 3 or Day 5 Human Embryos Biopsies Provides a Suitable DNA Template for PCR-Based Techniques for Genotyping, a Complement of Preimplantation Genetic Testing.BioMed research international · 2017Article
- Genotyping approach for non-invasive foetal RHD detection in an admixed population.Blood transfusion = Trasfusione del sangue · 2017Article
- Cell-free Fetal Nucleic Acid Identifier Markers in Maternal Circulation.Advanced biomedical research · 2017Review
- Article
- Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.Prenatal diagnosis · 2015Article
- Quantification of cell-free DNA in normal and complicated pregnancies: overcoming biological and technical issues.PloS one · 2014Article
- Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood.Diagnostics (Basel, Switzerland) · 2013Article
- Recent advances in the prenatal interrogation of the human fetal genome.Trends in genetics : TIG · 2013Review
- Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma.PloS one · 2013Article
- Fetal RHD Genotyping Using Real-Time Polymerase Chain Reaction Analysis of Cell-Free Fetal DNA in Pregnancy of RhD Negative Women in South of Iran.International journal of fertility & sterilityArticle
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5 authors.
Funding
Abstract
backgroundAnalysis of cell free fetal (cff) DNA in maternal plasma is used routinely for non invasive prenatal diagnosis (NIPD) of fetal sex determination, fetal rhesus D status and some single gene disorders. True positive results rely on detection of the fetal target being analysed. No amplification of the target may be interpreted either as a true negative result or a false negative result due to the absence or very low levels of cffDNA. The hypermethylated RASSF1A promoter has been reported as a universal fetal marker to confirm the presence of cffDNA. Using methylation-sensitive restriction enzymes hypomethylated maternal sequences are digested leaving hypermethylated fetal sequences detectable. Complete digestion of maternal sequences is required to eliminate false positive results.
methodscfDNA was extracted from maternal plasma (n = 90) and digested with methylation-sensitive and insensitive restriction enzymes. Analysis of RASSF1A, SRY and DYS14 was performed by real-time PCR.
resultsHypermethylated RASSF1A was amplified for 79 samples (88%) indicating the presence of cffDNA. SRY real time PCR results and fetal sex at delivery were 100% accurate. Eleven samples (12%) had no detectable hypermethylated RASSF1A and 10 of these (91%) had gestational ages less than 7 weeks 2 days. Six of these samples were male at delivery, five had inconclusive results for SRY analysis and one sample had no amplifiable SRY.
conclusionUse of this assay for the detection of hypermethylated RASSF1A as a universal fetal marker has the potential to improve the diagnostic reliability of NIPD for fetal sex determination and single gene disorders.
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