White, HE;
Dent, CL;
Hall, VJ;
Crolla, JA;
Chitty, LS;
(2012)
Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis.
PLOS One
, 7
(9)
, Article e45073. 10.1371/journal.pone.0045073.
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Abstract
Analysis 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.
| Type: | Article |
|---|---|
| Title: | Evaluation of a novel assay for detection of the fetal marker RASSF1A: facilitating improved diagnostic reliability of noninvasive prenatal diagnosis. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1371/journal.pone.0045073 |
| Publisher version: | http://dx.doi.org/10.1371/journal.pone.0045073 |
| Language: | English |
| Additional information: | © White et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. This article presents independent research commissioned by the National Institutes for Health Research (NIHR) under the Programme Grants for Applied Research programme (the “RAPID” project, RP-PG-0707-10107). LSC receives some funding from the NIHR Biomedical Research Centre at University College London Hospitals and the Great Ormond Street Hospital Children’s Charity. The views expressed in this publication are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. |
| Keywords: | Adolescent, Adult, Cell Cycle Proteins, Cell-Free System, DNA, Female, Humans, Male, Pregnancy, Prenatal Diagnosis, Real-Time Polymerase Chain Reaction, Reproducibility of Results, Sex Determination Analysis, Tumor Suppressor Proteins, Young Adult |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1372909 |
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