Detection of circulating fetal nucleic acids: a review of methods and applications

Hung, Emily C.W.; Chiu, Rossa W.̉K.; Lo, Y.M. Dennis

doi:10.1136/jcp.2007.048470

Cited by 45 publications

(30 citation statements)

References 111 publications

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“…MicroRNAs in serum and plasma are stable and resistant to nuclease digestion, and their expression levels in blood are reproducible and indicative of the disease state (Cortez et al, 2009; Kosaka et al, 2010; Mitchell et al, 2008). Placental microRNAs have also been discovered in maternal plasma, revealing new possibilities for non-invasive prenatal diagnosis (Hung et al, 2009). MicroRNAs are also found in microvesicles, which are plasma membrane fragments shed from virtually all cells (Deregibus et al, 2010).…”

Section: Evolution Of Micrornas As Diagnostic Markers Of Diseasementioning

confidence: 99%

MicroRNAs: Meta-controllers of gene expression in synaptic activity emerge as genetic and diagnostic markers of human disease

Ceman

Saugstad

2011

Pharmacology & Therapeutics

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MicroRNAs are members of the non-protein-coding family of RNAs. They serve as regulators of gene expression by modulating the translation and/or stability of messenger RNA targets. The discovery of microRNAs has revolutionized the field of cell biology, and has permanently altered the prevailing view of a linear relationship between gene and protein expression. The increased complexity of gene regulation is both exciting and daunting, as emerging evidence supports a pervasive role for microRNAs in virtually every cellular process. This review briefly describes microRNA processing and formation of RNA-induced silencing complexes, with a focus on the role of RNA binding proteins in this process. We also discuss mechanisms for microRNAmediated regulation of translation, particularly in dendritic spine formation and function, and the role of microRNAs in synaptic plasticity. We then discuss the evidence for altered microRNA function in cognitive brain disorders, and the effect of gene mutations revealed by single nucleotide polymorphism analysis on altered microRNA function and human disease. Further, we present evidence that altered microRNA expression in circulating fluids such as plasma/serum can correlate with, and serve as, novel diagnostic biomarkers of human disease.

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Section: Evolution Of Micrornas As Diagnostic Markers Of Diseasementioning

confidence: 99%

MicroRNAs: Meta-controllers of gene expression in synaptic activity emerge as genetic and diagnostic markers of human disease

Ceman

Saugstad

2011

Pharmacology & Therapeutics

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“…A spectrum of mRNAs has been identified in plasma that are presumed to have been released by either apoptosis or necrosis including those representing (i) genes overexpressed in a range of different tumors [73,74], (ii) fetal genes in the blood plasma of pregnant women [75], (iii) genes of patients with diabetic retinopathy [76] as well as (iv) housekeeping genes detected in the plasma of healthy persons [77]. RT-qPCR detectable fragments of 18S rRNA were also found in the extracellular RNA pool circulating in blood plasma of healthy subjects and cancer patients [78].…”

Section: Necrosis and Apoptosismentioning

confidence: 99%

The Biology of CNAPS

Gahan

2014

Advances in Predictive, Preventive and Personalised Medicine

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Although nucleic acids have been known to circulate in the blood since 1948 their biology has been studied only since the 1960s. This chapter contains discussion of (a) the presence of DNA and RNA circulating in human plasma and serum from both healthy individuals and patients, (b) the amounts of DNA/RNA present together with the variables affecting these amounts, (c) possible sources of the DNA/RNA in blood and (d) the ability of the circulating nucleic acids to enter other cells and to modify the biology of the recipient cells. The relationship of the DNA from cancer patients is considered with respect to the formation of metastases.

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“…Some of the more significant recent developments in this field include the detection of single molecule, chromosomal aneuploidies, single nucleotide variations, and placental microRNA in maternal plasma. 66 NIPT of fetal chromosomal aneuploidies and monogenic diseases by analyzing fetal DNA present in maternal plasma poses a challenging goal. In particular, the presence of background maternal DNA interferes with the analysis of fetal DNA.…”

Section: Dsjuogmentioning

confidence: 99%

Prenatal Diagnosis, Where and How: No Way Out?

Borruto¹,

Treisser²,

Comparetto³

2014

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Prenatal diagnosis is the branch of medicine and in particular of obstetrics, that studies and applies the techniques that reveal the normality or the presence of diseases of various kinds, in the fetus. All the techniques of prenatal diagnosis are performed during pregnancy and may be invasive or less. Among the best known, amniocentesis is the most exploited technique nowadays to highlight the possible presence of chromosomal disorders in the fetus, but also infections and genetic diseases such as thalassemia, cystic fibrosis, hemophilia, spina bifida, albinism. Amniocentesis consists of taking an amniotic fluid sample which is then analyzed. Fetal cells suspended in the withdrawn liquid allow us to reconstruct the chromosome map of the fetus and then to confirm or not its normality. Genetic testing, however, are not able to recognize the physical or mental characteristics of the unborn child which are the result of the interaction between multiple genes and the environment. Amniotic fluid makes possible to perform other types of analysis, more or less complex, and it is also possible to store the amniotic stem cells. Similar to amniocentesis as a principle but different as a technique, is chorionic villus sampling (CVS), in which the cells can be put in culture to show their normality, but they are cells taken outside from the gestational chamber (chorionic villi). These are invasive techniques (the fluid is taken by puncture in both cases), but there are also noninvasive techniques. The development of ultrasound, for example, has made it possible to develop some highly sensitive diagnostic techniques, such as the first trimester combined test [bitest and nuchal translucency (NT)], the 'quadruple' test, and lately the SCA test in the second trimester, all based on the ultrasound measurement of anatomical and functional parameters of the fetus and on the results of blood tests. These are all screening tests, then they do not give a definite answer but they have a statistical value (very accurate) that can direct toward diagnostic tests. Recently, an extremely sensitive test for the most common aneuploidies and in particular Down syndrome has been proposed to be performed on maternal blood. This test (called fetal DNA testing) is based on the count of fragments of specific chromosomes (21 in the case of Down syndrome) in maternal blood. Although not belonging to diagnostic tests but to probabilistic ones, this test is absolutely the most accurate so far available, with values around 99.99% sensitivity and 0.2% false positives. Also ultrasound in the second trimester of pregnancy (also called morphological ultrasound) that can detect any malformation or fetal abnormality and fetal echocardiography, which analyzes sonographically the fetal heart not only anatomically but also from the dynamic-functional point of view, may be considered methods of prenatal diagnosis. This technique cannot identify genetic diseases.

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Detection of circulating fetal nucleic acids: a review of methods and applications

Cited by 45 publications

References 111 publications

MicroRNAs: Meta-controllers of gene expression in synaptic activity emerge as genetic and diagnostic markers of human disease

MicroRNAs: Meta-controllers of gene expression in synaptic activity emerge as genetic and diagnostic markers of human disease

The Biology of CNAPS

Prenatal Diagnosis, Where and How: No Way Out?

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