Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art

2008 ◽  
Vol 116 (2) ◽  
pp. 152-157 ◽  
Author(s):  
YMD Lo
Keyword(s):  
Nucleic Acid ◽  
State Of The Art ◽  
Maternal Plasma ◽  
Prenatal Detection ◽  
Current State ◽  
Nucleic Acid Analysis ◽  
Chromosomal Aneuploidies

scholarly journals Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis

2008 ◽  
Vol 54 (3) ◽  
pp. 461-466 ◽  
Author(s):  
Y M Dennis Lo ◽  
Rossa W K Chiu
Keyword(s):  
Prenatal Diagnosis ◽  
Nucleic Acid ◽  
Nucleic Acids ◽  
Maternal Plasma ◽  
Small Sample ◽  
Routine Practice ◽  
Allelic Ratio ◽  
Noninvasive Prenatal Diagnosis ◽  
Nucleic Acid Analysis ◽  
Chromosomal Aneuploidies

Abstract Background: The discovery of circulating cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. The potential application of this technology for the noninvasive prenatal detection of fetal chromosomal aneuploidies is an aspect of this field that is being actively investigated. The main challenge of work in this area is the fact that cell-free fetal nucleic acids represent only a minor fraction of the total nucleic acids in maternal plasma. Methods and Results: We performed a review of the literature, which revealed that investigators have applied methods based on the physical and molecular enrichment of fetal nucleic acid targets from maternal plasma. The former includes the use of size fractionation of plasma DNA and the use of the controversial formaldehyde treatment method. The latter has been achieved through the development of fetal epigenetic and fetal RNA markers. The aneuploidy status of the fetus has been explored through the use of allelic ratio analysis of plasma fetal epigenetic and RNA markers. Digital PCR has been shown to offer high precision for allelic ratio and relative chromosome dosage analyses. Conclusions: After a decade of work, the theoretical and practical feasibility of prenatal fetal chromosomal aneuploidy detection by plasma nucleic acid analysis has been demonstrated in studies using small sample sets. Larger scale independent studies will be needed to validate these initial observations. If these larger scale studies prove successful, it is expected that with further development of new fetal DNA/RNA markers and new analytical methods, molecular noninvasive prenatal diagnosis of the major chromosomal aneuploidies could become a routine practice in the near future.

Expanding the Chemical Diversity of DNA

Synlett ◽  
2018 ◽  
Vol 29 (11) ◽  
pp. 1405-1414 ◽  
Author(s):  
Ryan Hili ◽  
Chun Guo ◽  
Dehui Kong ◽  
Yi Lei
Keyword(s):  
Nucleic Acid ◽  
Molecular Recognition ◽  
Biomedical Applications ◽  
State Of The Art ◽  
Molecular Target ◽  
Chemical Diversity ◽  
Specific Reaction ◽  
Chemical Complexity ◽  
Current State ◽  
The Rich

Nucleic acid polymers can be evolved to exhibit desired properties, including molecular recognition of a molecular target and catalysis of a specific reaction. These properties can be readily evolved despite the dearth of chemical diversity available to nucleic acid polymers, especially when compared to the rich chemical complexity of proteins. Expansion of nucleic acid chemical diversity has therefore been an important thrust for improving their properties for analytical and biomedical applications. Herein, we briefly describe the current state-of-the-art for the sequence-defined incorporation of modifications throughout an evolvable nucleic acid polymer. This includes contributions from our own lab, which have expanded the chemical diversity of nucleic acid polymers closer to the level observed in proteinogenic polymers.1 Introduction2 Polymerase-Catalyzed Synthesis of Modified Nucleic Acid ­Polymers3 Ligase-Catalyzed Oligonucleotide Polymerization (LOOPER)4 LOOPER with Small Modifications5 LOOPER with Large Modifications6 Evolution of Aptamers Derived from LOOPER Libraries7 Outlook

Current State of Intellectual Property in Microfluidic Nucleic Acid Analysis

2007 ◽  
Vol 1 (1) ◽  
pp. 71-88 ◽  
Author(s):  
Lidija Malic ◽  
Marc Herrmann ◽  
Xuyen Hoa ◽  
Maryam Tabrizian
Keyword(s):  
Nucleic Acid ◽  
Intellectual Property ◽  
Current State ◽  
Nucleic Acid Analysis

Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma

2013 ◽  
Vol 33 (6) ◽  
pp. 591-597 ◽  
Author(s):  
Amin R. Mazloom ◽  
Željko Džakula ◽  
Paul Oeth ◽  
Huiquan Wang ◽  
Taylor Jensen ◽  
...  
Keyword(s):  
Maternal Plasma ◽  
Cell Free Dna ◽  
Prenatal Detection ◽  
Free Dna ◽  
Chromosomal Aneuploidies ◽  
Circulating Cell Free Dna

scholarly journals Non-invasive prenatal diagnosis by massively parallel sequencing of maternal plasma DNA

Open Biology ◽  
2012 ◽  
Vol 2 (6) ◽  
pp. 120086 ◽  
Author(s):  
Yuk Ming Dennis Lo
Keyword(s):  
Prenatal Diagnosis ◽  
Massively Parallel Sequencing ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Plasma Dna ◽  
Parallel Sequencing ◽  
Non Invasive ◽  
Prenatal Detection ◽  
A Genome ◽  
Chromosomal Aneuploidies

The presence of foetal DNA in the plasma of pregnant women has opened up new possibilities for non-invasive prenatal diagnosis. The use of circulating foetal DNA for the non-invasive prenatal detection of foetal chromosomal aneuploidies is challenging as foetal DNA represents a minor fraction of maternal plasma DNA. In 2007, it was shown that single molecule counting methods would allow the detection of the presence of a trisomic foetus, as long as enough molecules were counted. With the advent of massively parallel sequencing, millions or billions of DNA molecules can be readily counted. Using massively parallel sequencing, foetal trisomies 21, 13 and 18 have been detected from maternal plasma. Recently, large-scale clinical studies have validated the robustness of this approach for the prenatal detection of foetal chromosomal aneuploidies. A proof-of-concept study has also shown that a genome-wide genetic and mutational map of a foetus can be constructed from the maternal plasma DNA sequencing data. These developments suggest that the analysis of foetal DNA in maternal plasma would play an increasingly important role in future obstetrics practice. It is thus a priority that the ethical, social and legal issues regarding this technology be systematically studied.

Behavioral Genetics: Concepts for Research and Practice in Language Development and Disorders

1995 ◽  
Vol 38 (5) ◽  
pp. 1126-1142 ◽  
Author(s):  
Jeffrey W. Gilger
Keyword(s):  
Language Development ◽  
Behavioral Genetics ◽  
State Of The Art ◽  
Genetic Research ◽  
Great Promise ◽  
Behavioral Genetic ◽  
Fine Grained ◽  
Future Goals ◽  
Current State ◽  
Research Designs

This paper is an introduction to behavioral genetics for researchers and practioners in language development and disorders. The specific aims are to illustrate some essential concepts and to show how behavioral genetic research can be applied to the language sciences. Past genetic research on language-related traits has tended to focus on simple etiology (i.e., the heritability or familiality of language skills). The current state of the art, however, suggests that great promise lies in addressing more complex questions through behavioral genetic paradigms. In terms of future goals it is suggested that: (a) more behavioral genetic work of all types should be done—including replications and expansions of preliminary studies already in print; (b) work should focus on fine-grained, theory-based phenotypes with research designs that can address complex questions in language development; and (c) work in this area should utilize a variety of samples and methods (e.g., twin and family samples, heritability and segregation analyses, linkage and association tests, etc.).

Schizophrenia Research: Current State of the Art

1976 ◽  
Vol 21 (7) ◽  
pp. 497-498
Author(s):  
STANLEY GRAND
Keyword(s):  
State Of The Art ◽  
Current State
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