scholarly journals VIEWS and NEWS Semiconductor based DNA sequencing platform • One marker for multiple types of cancer • New Nature Middle East website • IV Congress of Polish Biotechnology and IV EUROBIOTECH 2011 in Kraków • Innovative approach to the noninvasive prenatal diagnosis • Conference Non-coding RNA, Epigenetic Memory, and the Environment • 2011 International Conference on Food Engineering and Biotechnology • 36th FEBS Congress

2011 ◽  
Vol 1 ◽  
pp. 6-9
Author(s):  
Joanna Przybył
Keyword(s):  
Prenatal Diagnosis ◽  
Middle East ◽  
Dna Sequencing ◽  
Innovative Approach ◽  
Epigenetic Memory ◽  
Sequencing Platform ◽  
International Conference ◽  
Food Engineering ◽  
Noninvasive Prenatal Diagnosis ◽  
Non Coding Rna

scholarly journals Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing

PLoS ONE ◽  
2011 ◽  
Vol 6 (7) ◽  
pp. e21791 ◽  
Author(s):  
Eric Z. Chen ◽  
Rossa W. K. Chiu ◽  
Hao Sun ◽  
Ranjit Akolekar ◽  
K. C. Allen Chan ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Dna Sequencing ◽  
Maternal Plasma ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Plasma Dna ◽  
Noninvasive Prenatal Diagnosis

scholarly journals Noninvasive Prenatal Diagnosis of Duchenne Muscular Dystrophy: Comprehensive Genetic Diagnosis in Carrier, Proband, and Fetus

2015 ◽  
Vol 61 (6) ◽  
pp. 829-837 ◽  
Author(s):  
Seong-Keun Yoo ◽  
Byung Chan Lim ◽  
Jiyoung Byeun ◽  
Hee Hwang ◽  
Ki Joong Kim ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Recombination Event ◽  
Massively Parallel Sequencing ◽  
Genetic Diagnosis ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Carrier Status ◽  
Parallel Sequencing ◽  
Sequencing Platform ◽  
Noninvasive Prenatal Diagnosis

Abstract BACKGROUND Noninvasive prenatal diagnosis of monogenic disorders using maternal plasma and targeted massively parallel sequencing is being investigated actively. We previously demonstrated that comprehensive genetic diagnosis of a Duchenne muscular dystrophy (DMD) patient is feasible using a single targeted sequencing platform. Here we demonstrate the applicability of this approach to carrier detection and noninvasive prenatal diagnosis. METHODS Custom solution-based target enrichment was designed to cover the entire dystrophin (DMD) gene region. Targeted massively parallel sequencing was performed using genomic DNA from 4 mother and proband pairs to test whether carrier status could be detected reliably. Maternal plasma DNA at varying gestational weeks was collected from the same families and sequenced using the same targeted platform to predict the inheritance of the DMD mutation by their fetus. Overrepresentation of an inherited allele was determined by comparing the allele fraction of 2 phased haplotypes after examining and correcting for the recombination event. RESULTS The carrier status of deletion/duplication and point mutations was detected reliably through using a single targeted massively parallel sequencing platform. Whether the fetus had inherited the DMD mutation was predicted correctly in all 4 families as early as 6 weeks and 5 days of gestation. In one of these, detection of the recombination event and reconstruction of the phased haplotype produced a correct diagnosis. CONCLUSIONS Noninvasive prenatal diagnosis of DMD is feasible using a single targeted massively parallel sequencing platform with tiling design.

scholarly journals Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China

2021 ◽  
Vol 38 (3) ◽  
pp. 727-734
Author(s):  
Jiexia Yang ◽  
Yaping Hou ◽  
Fangfang Guo ◽  
Haishan Peng ◽  
Dongmei Wang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Sex Chromosome ◽  
Southern China ◽  
Prenatal Testing ◽  
Clinical Genetic ◽  
Fetal Sex ◽  
Sequencing Platform ◽  
Cell Free Fetal Dna ◽  
Fetal Aneuploidies

Abstract Background Noninvasive prenatal testing (NIPT) has been widely used to screen for fetal aneuploidies, including fetal sex chromosome aneuploidies (SCAs). However, there is less information on the performance of NIPT in detecting SCAs. Methods A cohort of 47,800 pregnancies was recruited to review the high-risk NIPT results for SCAs. Cell-free fetal DNA (cffDNA) was extracted and sequenced. All NIPT high-risk cases were recommended to undergo invasive prenatal diagnosis for karyotyping analysis and chromosome microarray analysis (CMA). Results A total of 238 high-risk cases were detected by NIPT, including 137 cases of 45,X, 27 cases of 47,XXX, and 74 cases of 47,XYY/47,XXY. Prenatal diagnosis, including karyotyping analysis and CMA, was available in 170 cases. The positive predictive value (PPV) was 30.00% for 45,X, 70.58% for 47,XXX, and 81.13% for 47,XYY/47,XXY. In addition, 13 cases of sex chromosome mosaicism and 9 cases of sex chromosome CNVs were incidentally found in this study. Conclusion Our study showed that NIPT was reliable for screening SCAs based on a large sample, and it performed better in predicting sex chromosome trisomies than monosomy X. Our study will provide an important reference for clinical genetic counseling and further processing of the results.

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.

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