scholarly journals Noninvasive Prenatal Diagnosis of Down Syndrome in Samples from Southwest Chinese Gravidas Using Pregnant Plasma Placental RNA Allelic Ratio

2012 ◽  
Vol 16 (9) ◽  
pp. 1051-1057 ◽  
Author(s):  
Youcheng Zhang ◽  
Hongqian Liu ◽  
Xinlian Chen ◽  
Xiaoyan Xie ◽  
Shanling Liu ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Allelic Ratio ◽  
Noninvasive Prenatal Diagnosis

Modified methylated DNA immunoprecipitation protocol for noninvasive prenatal diagnosis of Down syndrome

2018 ◽  
Vol 44 (4) ◽  
pp. 608-613 ◽  
Author(s):  
Fatemeh Karami ◽  
Mohammad R. Noori-Daloii ◽  
Kobra Omidfar ◽  
Mina Tabrizi ◽  
Seddigheh Hantooshzadeh ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Methylated Dna ◽  
Noninvasive Prenatal Diagnosis

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.

scholarly journals Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome

2010 ◽  
Vol 12 (5) ◽  
pp. 298-303 ◽  
Author(s):  
Marleen R Susman ◽  
David J Amor ◽  
Evelyne Muggli ◽  
Alice M Jaques ◽  
Jane Halliday
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Population Based ◽  
Noninvasive Prenatal Diagnosis ◽  
The Impact

scholarly journals Noninvasive Prenatal Detection of Fetal Trisomy 18 by Epigenetic Allelic Ratio Analysis in Maternal Plasma: Theoretical and Empirical Considerations

2006 ◽  
Vol 52 (12) ◽  
pp. 2194-2202 ◽  
Author(s):  
Yu K Tong ◽  
Chunming Ding ◽  
Rossa WK Chiu ◽  
Ageliki Gerovassili ◽  
Stephen SC Chim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Maternal Plasma ◽  
Trisomy 18 ◽  
Ratio Analysis ◽  
Dna Mixtures ◽  
Allelic Ratio ◽  
Fetal Dna ◽  
Noninvasive Prenatal Diagnosis ◽  
Cell Free Fetal Dna ◽  
Chromosomal Aneuploidies

Abstract Background: The discovery of cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. However, the use of maternal plasma fetal DNA for the direct detection of fetal chromosomal aneuploidies has not been reported. We postulate that the aneuploidy status of a fetus could be revealed by an epigenetic allelic ratio approach, i.e., by analyzing the allelic ratio of a single-base variation present within DNA molecules exhibiting a placental-specific epigenetic signature in maternal plasma. Methods: Placental-derived fetal-specific unmethylated maspin (SERPINB5) promoter sequences on human chromosome 18 were detectable in placental–maternal DNA mixtures and in maternal plasma by bisulfite modification followed by methylation-specific PCR (MSP) and primer extension. The ratios between the extension products of the 2 alleles were calculated for heterozygous placentas, placental–maternal blood cell DNA mixtures, and maternal plasma samples. The allelic ratios were compared between pregnancies carrying trisomy 18 and euploid fetuses. Results: The epigenetic allelic ratios of all tested trisomy 18 samples deviated from the reference range obtained from euploid samples (placental DNA, 1.135 to 2.052; placental–maternal DNA mixtures, 1.170 to 1.985; maternal plasma, 0.330 to 3.044; without skew correction on the raw mass spectrometric data). A theoretical model was established and validated that predicted that a minimum of 200 copies of genomic DNA after bisulfite conversion were required for distinguishing euploid and aneuploid fetuses with confidence. Conclusion: Epigenetic allelic ratio analysis of maternal plasma DNA represents a promising approach for noninvasive prenatal diagnosis of fetal chromosomal aneuploidies.

Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights

2012 ◽  
Vol 40 (4) ◽  
Author(s):  
Stavros Sifakis ◽  
Nikos Papantoniou ◽  
Dimitra Kappou ◽  
Aris Antsaklis
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Current Knowledge ◽  
Noninvasive Prenatal Diagnosis

scholarly journals Differentially Expressed MicroRNAs in Maternal Plasma for the Noninvasive Prenatal Diagnosis of Down Syndrome (Trisomy 21)

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Julian Kamhieh-Milz ◽  
Reham Fadl Hassan Moftah ◽  
Gürkan Bal ◽  
Matthias Futschik ◽  
Viktor Sterzer ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Hierarchical Cluster ◽  
Mature Mirnas ◽  
Maternal Plasma ◽  
Differentially Expressed ◽  
Developmental Processes ◽  
Noninvasive Prenatal Diagnosis ◽  
Small Regulatory Rnas ◽  
Extracellular Mirnas

Objectives. Most developmental processes are under the control of small regulatory RNAs called microRNAs (miRNAs). We hypothesize that different fetal developmental processes might be reflected by extracellular miRNAs in maternal plasma and may be utilized as biomarkers for the noninvasive prenatal diagnosis of chromosomal aneuploidies. In this proof-of-concept study, we report on the identification of extracellular miRNAs in maternal plasma of Down syndrome (DS) pregnancies.Methods. Using high-throughput quantitative PCR (HT-qPCR), 1043 miRNAs were investigated in maternal plasma via comparison of seven DS pregnancies with age and fetal sex matched controls.Results. Six hundred and ninety-five miRNAs were identified. Thirty-six significantly differentially expressed mature miRNAs were identified as potential biomarkers. Hierarchical cluster analysis of these miRNAs resulted in the clear discrimination of DS from euploid pregnancies. Gene targets of the differentially expressed miRNAs were enriched in signaling pathways such as mucin type-O-glycans, ECM-receptor interactions, TGF-beta, and endocytosis, which have been previously associated with DS.Conclusions. miRNAs are promising and stable biomarkers for a broad range of diseases and may allow a reliable, cost-efficient diagnostic tool for the noninvasive prenatal diagnosis of DS.

scholarly journals Noninvasive prenatal diagnosis of β‐thalassemia by relative haplotype dosage without analyzing proband

2019 ◽  
Vol 7 (11) ◽  
Author(s):  
Haoxian Li ◽  
Bole Du ◽  
Fuman Jiang ◽  
Yulai Guo ◽  
Yang Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Noninvasive Prenatal Diagnosis
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