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 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 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

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

scholarly journals Differential DNA Methylation as a Tool for Noninvasive Prenatal Diagnosis (NIPD) of X Chromosome Aneuploidies

2010 ◽  
Vol 12 (6) ◽  
pp. 797-807 ◽  
Author(s):  
Floriana Della Ragione ◽  
Paola Mastrovito ◽  
Ciro Campanile ◽  
Anna Conti ◽  
Elisavet A. Papageorgiou ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Prenatal Diagnosis ◽  
X Chromosome ◽  
Noninvasive Prenatal Diagnosis

scholarly journals Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia

2012 ◽  
Vol 58 (10) ◽  
pp. 1467-1475 ◽  
Author(s):  
Kwan-Wood G Lam ◽  
Peiyong Jiang ◽  
Gary J W Liao ◽  
K C Allen Chan ◽  
Tak Y Leung ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Massively Parallel Sequencing ◽  
Globin Gene ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Sequencing Data ◽  
Plasma Dna ◽  
Parallel Sequencing ◽  
Noninvasive Prenatal Diagnosis ◽  
Monogenic Diseases

Abstract BACKGROUND A genomewide genetic and mutational profile of a fetus was recently determined via deep sequencing of maternal plasma DNA. This technology could have important applications for noninvasive prenatal diagnosis (NIPD) of many monogenic diseases. Relative haplotype dosage (RHDO) analysis, a core step of this procedure, would allow one to elucidate the maternally inherited half of the fetal genome. For clinical applications, the cost and complexity of data analysis might be reduced via targeted application of this approach to selected genomic regions containing disease-causing genes. There is thus a need to explore the feasibility of performing RHDO analysis in a targeted manner. METHODS We performed target enrichment by using solution-phase hybridization followed by massively parallel sequencing of the β-globin gene region in 2 families undergoing prenatal diagnosis for β-thalassemia. We used digital PCR strategies to physically deduce parental haplotypes. Finally, we performed RHDO analysis with target-enriched sequencing data and parental haplotypes to reveal the β-thalassemic status for the fetuses. RESULTS A mean sequencing depth of 206-fold was achieved in the β-globin gene region by targeted sequencing of maternal plasma DNA. RHDO analysis was successful for the sequencing data obtained from the target-enriched samples, including a region in one of the families in which the parents had similar haplotype structures. Data analysis revealed that both fetuses were heterozygous carriers of β-thalassemia. CONCLUSIONS Targeted sequencing of maternal plasma DNA for NIPD of monogenic diseases is feasible.

Sign in / Sign up

Export Citation Format

Share Document