Berry Genomics

Beijing, China

Berry Genomics

Beijing, China
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Ma J.,Peking University | Cram D.S.,Berry Genomics | Zhang J.,Berry Genomics | Shang L.,Berry Genomics | And 2 more authors.
Molecular Cytogenetics | Year: 2015

Background: Non-invasive prenatal testing (NIPT) is currently used as a frontline screening test to identify fetuses with common aneuploidies. Occasionally, incidental NIPT results are conveyed to the clinician suggestive of fetuses with rare chromosome disease syndromes. We describe a child with trisomy 9 (T9) mosaicism where the prenatal history reported a positive NIPT result for T9 that was unconfirmed by conventional prenatal diagnosis. Methods: NIPT was performed by low coverage whole genome plasma DNA sequencing. Karyotyping and fluorescent in situ hybridization (FISH) analysis with chromosome 9p-ter and 9q-ter probes was used to determine the somatic cell level of T9 mosaicism in the fetus and child. Quantitative fluorescent PCR (Q-PCR) of highly polymorphic short tandem repeat (STR) chromosome 9 markers was also performed to investigate the nature of the T9 mosaicism and the parental origin. Results: A 22 month old girl presented with severe developmental delay, congenital cerebral dysplasia and congenital heart disease consistent with phenotypes associated with T9 mosaicism syndrome. Review of the prenatal testing history revealed a positive NIPT result for chromosome T9. However, follow up confirmatory karyotyping and FISH analysis of fetal cells returned a normal karyotype. Post-natal studies of somatic cell T9 mosaicism by FISH detected levels of approximately 20 % in blood and buccal cells. Q-PCR STR analysis of family DNA samples suggested that the T9 mosaicism originated by post-zygotic trisomic rescue of a paternal meiotic II chromosome 9 non-disjunction error resulting in the formation of two distinct somatic cell lines in the proband, one with paternal isodisomy 9 and one with T9. Conclusion: This study shows that NIPT may also be a useful screening technology to increase prenatal detection rates of rare fetal chromosome disease syndromes. © 2015 Ma et al.


Wang Y.,Shanghai Medical College | Wang Y.,Shanghai JiaoTong University | Chen Y.,Shanghai JiaoTong University | Tian F.,Berry Genomics | And 8 more authors.
Clinical Chemistry | Year: 2014

In the human fetus, sex chromosome aneuploidies (SCAs) are as prevalent as the common autosomal trisomies 21, 18, and 13. Currently, most noninvasive prenatal tests (NIPTs) offer screening only for chromosomes 21, 18, and 13, because the sensitivity and specificity are markedly higher than for the sex chromosomes. Limited studies suggest that the reduced accuracy associated with detecting SCAs is due to confined placental, placental, or true fetal mosaicism. Wehypothesized that an altered maternal karyotype may also be an important contributor to discordant SCA NIPT results. METHODS: We developed a rapid karyotyping method that uses massively parallel sequencing to measure the degree of chromosome mosaicism. The method was validated with DNA models mimicking XXX and XO mosaicism and then applied to maternal white blood cell (WBC) DNA from patients with discordant SCA NIPT results. RESULTS: Sequencing karyotyping detected chromosome X (ChrX) mosaicism as low as 5%, allowing an accurate assignment of the maternal X karyotype. In a prospective NIPT study, we showed that 16 (8.6%) of 181 positive SCAs were due to an abnormal maternal ChrX karyotype that masked the true contribution of the fetal ChrX DNA fraction. CONCLUSIONS: The accuracy of NIPT for ChrX and ChrY can be improved substantially by integrating the results of maternal-plasma sequencing with those for maternal-WBC sequencing. The relatively high frequency of maternal mosaicism warrants mandatory WBC testing in both shotgun sequencing- and singlenucleotide polymorphism-based clinical NIPT after the finding of a potential fetal SCA. © 2013 American Association for Clinical Chemistry.


Song Y.,Peking Union Medical College | Huang S.,Peking Union Medical College | Zhou X.,Peking Union Medical College | Jiang Y.,Peking Union Medical College | And 6 more authors.
Ultrasound in Obstetrics and Gynecology | Year: 2015

Objectives: To evaluate the feasibility of non-invasive prenatal testing (NIPT) of maternal plasma samples collected from pregnant Chinese women in early gestation, between 8 + 0 and 12 + 6weeks' gestation. Methods: In this pilot study, 212 women with high-risk pregnancies were recruited at a single Chinese Hospital. Fetal aneuploidies associated with chromosomes 21, 18, 13, X and Y were detected by massively parallel sequencing of maternal plasma DNA samples. Invasive prenatal diagnosis by either chorionic villus sampling or amniocentesis and then karyotyping was offered to all women to confirm both positive and negative NIPT results. Fetal DNA fraction was also determined in male pregnancies, by the relative percentage of Y-chromosome sequences. All confirmed NIPT-negative pregnancies were followed up to birth and neonates were clinically evaluated for any symptoms of chromosomal disease. Results: Autosomal aneuploidies trisomy 21 (n = 2), 18 (n = 1) and 13 (n = 1) were detected by NIPT and confirmed by amniocentesis and karyotyping. There were one false-positive 45,X sample and two false-negative samples associated with fetal karyotypes 47,XXY and 45,X[16]/47,XXX[14]. In the 100 male pregnancies, the median fetal DNA fraction was 8.54% and there was a trend towards an increasing fetal fraction from 8 + 0 to 12 + 6weeks' gestation. The majority (95%) of pregnancies had a fetal DNA fraction > 4%, which is generally the limit for accurate aneuploidy detection by NIPT. Across this early gestational time period, there was a weak inverse relationship (R2 = 0.186) between fetal DNA fraction and maternal weight. Conclusions: NIPT is highly reliable and accurate when applied to maternal DNA samples collected from pregnant women in the first trimester between 8 + 0 and 12 + 6 weeks. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.


This report studies Genome Sequencing Equipment in Global market, especially in North America, Europe, China, Japan, Southeast Asia and India, focuses on top manufacturers in global market, with production, price, revenue and market share for each manufacturer, covering  Illumina  Thermo Fisher Scientific  BGI  Roche  Qiagen  Pacific Biosciences  Sequenom  DAAN Gene  Agilent Technologies  Berry Genomics  Hunan China Sun Pharmaceutical Machinery  Jilin Zixin Pharmaceutical Industrial Market Segment by Regions, this report splits Global into several key Regions, with production, consumption, revenue, market share and growth rate of Genome Sequencing Equipment in these regions, from 2011 to 2021 (forecast), like  North America  Europe  China  Japan  Southeast Asia  India Split by product type, with production, revenue, price, market share and growth rate of each type, can be divided into  Pacific Bio  Ion Torrent sequencing  Illumina  SOLiD sequencing Split by application, this report focuses on consumption, market share and growth rate of Genome Sequencing Equipment in each application, can be divided into  Medicine  Biology  Geology  Agriculture  Others 1 Genome Sequencing Equipment Market Overview  1.1 Product Overview and Scope of Genome Sequencing Equipment  1.2 Genome Sequencing Equipment Segment by Type  1.2.1 Global Production Market Share of Genome Sequencing Equipment by Type in 2015  1.2.2 Pacific Bio  1.2.3 Ion Torrent sequencing  1.2.4 Illumina  1.2.5 SOLiD sequencing  1.3 Genome Sequencing Equipment Segment by Application  1.3.1 Genome Sequencing Equipment Consumption Market Share by Application in 2015  1.3.2 Medicine  1.3.3 Biology  1.3.4 Geology  1.3.5 Agriculture  1.3.6 Others  1.4 Genome Sequencing Equipment Market by Region  1.4.1 North America Status and Prospect (2011-2021)  1.4.2 Europe Status and Prospect (2011-2021)  1.4.3 China Status and Prospect (2011-2021)  1.4.4 Japan Status and Prospect (2011-2021)  1.4.5 Southeast Asia Status and Prospect (2011-2021)  1.4.6 India Status and Prospect (2011-2021)  1.5 Global Market Size (Value) of Genome Sequencing Equipment (2011-2021) 2 Global Genome Sequencing Equipment Market Competition by Manufacturers  2.1 Global Genome Sequencing Equipment Production and Share by Manufacturers (2015 and 2016)  2.2 Global Genome Sequencing Equipment Revenue and Share by Manufacturers (2015 and 2016)  2.3 Global Genome Sequencing Equipment Average Price by Manufacturers (2015 and 2016)  2.4 Manufacturers Genome Sequencing Equipment Manufacturing Base Distribution, Sales Area and Product Type  2.5 Genome Sequencing Equipment Market Competitive Situation and Trends  2.5.1 Genome Sequencing Equipment Market Concentration Rate  2.5.2 Genome Sequencing Equipment Market Share of Top 3 and Top 5 Manufacturers  2.5.3 Mergers & Acquisitions, Expansion 3 Global Genome Sequencing Equipment Production, Revenue (Value) by Region (2011-2016)  3.1 Global Genome Sequencing Equipment Production by Region (2011-2016)  3.2 Global Genome Sequencing Equipment Production Market Share by Region (2011-2016)  3.3 Global Genome Sequencing Equipment Revenue (Value) and Market Share by Region (2011-2016)  3.4 Global Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2011-2016)  3.5 North America Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2011-2016)  3.6 Europe Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2011-2016)  3.7 China Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2011-2016)  3.8 Japan Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2011-2016)  3.9 Southeast Asia Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2011-2016)  3.10 India Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2011-2016) 4 Global Genome Sequencing Equipment Supply (Production), Consumption, Export, Import by Regions (2011-2016)  4.1 Global Genome Sequencing Equipment Consumption by Regions (2011-2016)  4.2 North America Genome Sequencing Equipment Production, Consumption, Export, Import by Regions (2011-2016)  4.3 Europe Genome Sequencing Equipment Production, Consumption, Export, Import by Regions (2011-2016)  4.4 China Genome Sequencing Equipment Production, Consumption, Export, Import by Regions (2011-2016)  4.5 Japan Genome Sequencing Equipment Production, Consumption, Export, Import by Regions (2011-2016)  4.6 Southeast Asia Genome Sequencing Equipment Production, Consumption, Export, Import by Regions (2011-2016)  4.7 India Genome Sequencing Equipment Production, Consumption, Export, Import by Regions (2011-2016) 7 Global Genome Sequencing Equipment Manufacturers Profiles/Analysis  7.1 Illumina  7.1.1 Company Basic Information, Manufacturing Base and Its Competitors  7.1.2 Genome Sequencing Equipment Product Type, Application and Specification  7.1.2.1 Type I  7.1.2.2 Type II  7.1.3 Illumina Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016)  7.1.4 Main Business/Business Overview  7.2 Thermo Fisher Scientific  7.2.1 Company Basic Information, Manufacturing Base and Its Competitors  7.2.2 Genome Sequencing Equipment Product Type, Application and Specification  7.2.2.1 Type I  7.2.2.2 Type II  7.2.3 Thermo Fisher Scientific Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016)  7.2.4 Main Business/Business Overview  7.3 BGI  7.3.1 Company Basic Information, Manufacturing Base and Its Competitors  7.3.2 Genome Sequencing Equipment Product Type, Application and Specification  7.3.2.1 Type I  7.3.2.2 Type II  7.3.3 BGI Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016)  7.3.4 Main Business/Business Overview  7.4 Roche  7.4.1 Company Basic Information, Manufacturing Base and Its Competitors  7.4.2 Genome Sequencing Equipment Product Type, Application and Specification  7.4.2.1 Type I  7.4.2.2 Type II  7.4.3 Roche Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016)  7.4.4 Main Business/Business Overview  7.5 Qiagen  7.5.1 Company Basic Information, Manufacturing Base and Its Competitors  7.5.2 Genome Sequencing Equipment Product Type, Application and Specification  7.5.2.1 Type I  7.5.2.2 Type II


News Article | November 15, 2016
Site: www.newsmaker.com.au

Non-invasive prenatal diagnosis refers to screening test recommended for the detection of certain specific chromosomal aneuploidies from maternal blood sample. Over the past two years, the global prenatal testing market has witnessed a paradigm shift from conventional prenatal screening and diagnostic methods such as maternal serum screening, nuchal translucency (NT) scan, amniocentesis, and chorionic villus sampling (CVS) to non-invasive prenatal testing. This was mainly because of the advantages associated with NIPTs such as safety, accuracy, and no risk of miscarriage during the genetic screening test for common chromosomal abnormalities (trisomy 21, trisomy 18, trisomy 13, monosomy X, etc.). Currently, NIPTs are recommended only to high-risk pregnant women; however, several companies are targeting their tests toward both low-risk and high-risk pregnancies. According to a new market report published by Persistence Market Research “Global Market Study on Non-invasive Prenatal Testing (NIPT) Market 2015 – 2022”, the global NIPT market was valued at US$ 0.53 Bn in 2013 and is expected to expand at a CAGR of 15.0% from 2015 to 2022 to reach US$ 2.38 Bn in 2022. BambniTest, Harmony, informaSeq, MaterniT21 PLUS, NIFTY, Panorama, PrenaTest, verifi, and VisibiliT are the commercially available NIPTs in the global market. These tests are based on the direct analysis of cell-free fetal DNA in the maternal blood. MaterniT21 (MaterniT21 PLUS) was the first non-invasive prenatal Laboratory Developed Test (LDT) that was launched by Sequenom, Inc. in October 2011 for the detection of trisomy 21. MaterniT21 PLUS gained advantage of being the first mover in the NIPT market and was the most accepted NIPT in 2013, accounting for 36.1% share of the market in terms of revenue. It is likely to lose market share during the forecast period from 2015 to 2022 due to increasing market penetration by other NIPTs such as NIFTY, Panorama, and verifi. In terms of volume, MaterniT21 test was the leading segment in 2013. However, the number of MaterniT21 tests performed would decrease during the forecast period from 2015 to 2022. This is majorly due to commercialization of other non-invasive tests and their positioning strategies. Due to the recent CFDA approval for BambniTest (Berry Genomics), the number of tests performed would increase during the forecast period. Advantages offered by NIPT such as non-invasiveness, high accuracy and early detection; rising awareness, increasing market penetration in highly untapped countries in Europe and Asia; and continuous increase in average maternal age are the major factors expected to drive the growth of the global NIPT market during the forecast period. However, the market could face significant ethical and regulatory hurdles associated with the implementation of NIPT because of the belief that it is likely to increase the incidence of abortions. Therefore, various professional organizations such as the American College of Obstetricians and Gynecologists (ACOG), the International Society for Prenatal Diagnosis, the Japan Society of Obstetrics and Gynecology, and genetic counselors across the world have set up guidelines that limit the use of non-invasive prenatal testing only to pregnant women at high risk of chromosomal aneuploidies. Several companies are investing in the development of non-invasive prenatal tests. Quest Diagnostics is developing a non-invasive test by utilizing the patented technology of Sequenom, Inc. and the test is likely to be commercialized in 2015. Sequenom, Inc., Illumina, Inc. (Verinata Health, Inc.), Ariosa Diagnostics, Natera, Inc., BGI Diagnostics, LifeCodexx AG, LabCorp, and Berry Genomics are the major companies operating in the global non-invasive prenatal tests market.


This report studies Genome Sequencing Equipment in Global market, especially in North America, Europe, China, Japan, Southeast Asia and India, focuses on top manufacturers in global market, with production, price, revenue and market share for each manufacturer, covering Illumina Thermo Fisher Scientific BGI Roche Qiagen Pacific Biosciences Sequenom DAAN Gene Agilent Technologies Berry Genomics Hunan China Sun Pharmaceutical Machinery Jilin Zixin Pharmaceutical Industrial View Full Report With Complete TOC, List Of Figure and Table: http://globalqyresearch.com/global-genome-sequencing-equipment-market-research-report-2016 Market Segment by Regions, this report splits Global into several key Regions, with production, consumption, revenue, market share and growth rate of Genome Sequencing Equipment in these regions, from 2011 to 2021 (forecast), like North America Europe China Japan Southeast Asia India Split by product type, with production, revenue, price, market share and growth rate of each type, can be divided into Pacific Bio Ion Torrent sequencing Illumina SOLiD sequencing Split by application, this report focuses on consumption, market share and growth rate of Genome Sequencing Equipment in each application, can be divided into Medicine Biology Geology Agriculture Others Global Genome Sequencing Equipment Market Research Report 2016 1 Genome Sequencing Equipment Market Overview 1.1 Product Overview and Scope of Genome Sequencing Equipment 1.2 Genome Sequencing Equipment Segment by Type 1.2.1 Global Production Market Share of Genome Sequencing Equipment by Type in 2015 1.2.2 Pacific Bio 1.2.3 Ion Torrent sequencing 1.2.4 Illumina 1.2.5 SOLiD sequencing 1.3 Genome Sequencing Equipment Segment by Application 1.3.1 Genome Sequencing Equipment Consumption Market Share by Application in 2015 1.3.2 Medicine 1.3.3 Biology 1.3.4 Geology 1.3.5 Agriculture 1.3.6 Others 1.4 Genome Sequencing Equipment Market by Region 1.4.1 North America Status and Prospect (2011-2021) 1.4.2 Europe Status and Prospect (2011-2021) 1.4.3 China Status and Prospect (2011-2021) 1.4.4 Japan Status and Prospect (2011-2021) 1.4.5 Southeast Asia Status and Prospect (2011-2021) 1.4.6 India Status and Prospect (2011-2021) 1.5 Global Market Size (Value) of Genome Sequencing Equipment (2011-2021) 7 Global Genome Sequencing Equipment Manufacturers Profiles/Analysis 7.1 Illumina 7.1.1 Company Basic Information, Manufacturing Base and Its Competitors 7.1.2 Genome Sequencing Equipment Product Type, Application and Specification 7.1.2.1 Type I 7.1.2.2 Type II 7.1.3 Illumina Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.1.4 Main Business/Business Overview 7.2 Thermo Fisher Scientific 7.2.1 Company Basic Information, Manufacturing Base and Its Competitors 7.2.2 Genome Sequencing Equipment Product Type, Application and Specification 7.2.2.1 Type I 7.2.2.2 Type II 7.2.3 Thermo Fisher Scientific Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.2.4 Main Business/Business Overview 7.3 BGI 7.3.1 Company Basic Information, Manufacturing Base and Its Competitors 7.3.2 Genome Sequencing Equipment Product Type, Application and Specification 7.3.2.1 Type I 7.3.2.2 Type II 7.3.3 BGI Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.3.4 Main Business/Business Overview 7.4 Roche 7.4.1 Company Basic Information, Manufacturing Base and Its Competitors 7.4.2 Genome Sequencing Equipment Product Type, Application and Specification 7.4.2.1 Type I 7.4.2.2 Type II 7.4.3 Roche Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.4.4 Main Business/Business Overview 7.5 Qiagen 7.5.1 Company Basic Information, Manufacturing Base and Its Competitors 7.5.2 Genome Sequencing Equipment Product Type, Application and Specification 7.5.2.1 Type I 7.5.2.2 Type II 7.5.3 Qiagen Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.5.4 Main Business/Business Overview 7.6 Pacific Biosciences 7.6.1 Company Basic Information, Manufacturing Base and Its Competitors 7.6.2 Genome Sequencing Equipment Product Type, Application and Specification 7.6.2.1 Type I 7.6.2.2 Type II 7.6.3 Pacific Biosciences Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.6.4 Main Business/Business Overview 7.7 Sequenom 7.7.1 Company Basic Information, Manufacturing Base and Its Competitors 7.7.2 Genome Sequencing Equipment Product Type, Application and Specification 7.7.2.1 Type I 7.7.2.2 Type II 7.7.3 Sequenom Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.7.4 Main Business/Business Overview 7.8 DAAN Gene 7.8.1 Company Basic Information, Manufacturing Base and Its Competitors 7.8.2 Genome Sequencing Equipment Product Type, Application and Specification 7.8.2.1 Type I 7.8.2.2 Type II 7.8.3 DAAN Gene Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.8.4 Main Business/Business Overview 7.9 Agilent Technologies 7.9.1 Company Basic Information, Manufacturing Base and Its Competitors 7.9.2 Genome Sequencing Equipment Product Type, Application and Specification 7.9.2.1 Type I 7.9.2.2 Type II 7.9.3 Agilent Technologies Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.9.4 Main Business/Business Overview 7.10 Berry Genomics 7.10.1 Company Basic Information, Manufacturing Base and Its Competitors 7.10.2 Genome Sequencing Equipment Product Type, Application and Specification 7.10.2.1 Type I 7.10.2.2 Type II 7.10.3 Berry Genomics Genome Sequencing Equipment Production, Revenue, Price and Gross Margin (2015 and 2016) 7.10.4 Main Business/Business Overview 7.11 Hunan China Sun Pharmaceutical Machinery 7.12 Jilin Zixin Pharmaceutical Industrial Global QYResearch ( http://globalqyresearch.com/ ) is the one spot destination for all your research 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Wang L.,Chinese PLA General Hospital | Wang X.,PLA Fourth Military Medical University | Zhang J.,Berry Genomics | Song Z.,Berry Genomics | And 9 more authors.
Biology of Reproduction | Year: 2014

Embryos produced by assisted reproductive technologies are commonly associated with a high level of aneuploidy. Currently, 24-chromosome profiling of embryo biopsy samples by arraybased methods is available to identify euploid embryos for transfer that have a higher potential for implantation and development to term. From a laboratory and patient perspective, there is a need to explore the feasibility of developing an alternative method for routine aneuploidy assessment of embryos that would be more comprehensive, cost-effective, and efficient. We speculated that aneuploidy could be readily assessed in test single-cell biopsy samples by first performing whole genome amplification followed by library generation, massively parallel shot-gun sequencing, and finally bioinformatics analysis to quantitatively compare the ratio of uniquely mapped reads to reference cells. Using Down syndrome as an example, the copy number change for chromosome 21 was consistently 1.5-fold higher in multiple cell and single-cell samples with a 47, XX,+21 karyotype. Applying the validated sequencing strategy to 10 sister blastomeres from a single human embryo, we showed that the aneuploidy status called by sequencing was consistent with short tandem repeat allelic profiling. These validation studies indicate that aneuploidy detection using sequencing-based methodology is feasible for further improving the practice of preimplantation genetic diagnosis. © 2014 by the Society for the Study of Reproduction, Inc.


Shi X.,Liaoning Medical University | Zhang Z.,Liaoning Medical University | Cram D.S.,Berry Genomics | Liu C.,Liaoning Medical University
Clinica Chimica Acta | Year: 2015

Background: Noninvasive prenatal testing (NIPT) by massively parallel sequencing (MPS) of the circulating cell free fetal (cff) DNA during the second trimester of pregnancy is now a frontline test for detecting common fetal chromosomal abnormalities. However, the availability of an earlier test result in the first trimester would enable better clinical management of high-risk pregnancies. The aim of the study was to determine the feasibility of early gestational NIPT. Methods: Plasma DNA libraries were subjected to MPS and chromosomal read counts normalized to reference. Chromosomal aneuploidy was determined by z-scores (- 3. <. z<. 3, normal range). The cff DNA fraction in 96 male pregnancies was calculated by the relative proportion of Y chromosomal reads. Results: NIPT results were obtained in the first (8-12. weeks) and second (15-18. weeks) trimester for 182 high-risk women. NIPT identified T21, T13 and 45,X in 3 pregnancies that were confirmed by karyotyping, but missed a T15 pregnancy that eventually miscarried. In the remaining 178 pregnancies, results for first and second trimester NIPT were normal. The median fetal fraction in the first trimester was 7.6 ± 4.18% and 15% of samples were identified with a cff fraction below 4%. Different trends of cff DNA fraction change were observed between the first and second trimester, with 59% of pregnancies showing an increase, 17% showing no change and 24% showing a decrease. Conclusions: Although NIPT was highly reliable and accurate at an earlier gestational age, clinical implementation should proceed with caution due to a small, but significant, number of pregnancies associated with a low cff DNA fraction. © 2014 Elsevier B.V.


PubMed | Nanjing Medical University and Berry Genomics
Type: Clinical Trial | Journal: Prenatal diagnosis | Year: 2016

To determine the type and frequency of pathogenic chromosomal abnormalities in fetuses diagnosed with congenital heart disease (CHD) using chromosomal microarray analysis (CMA) and validate next-generation sequencing as an alternative diagnostic method.Chromosomal aneuploidies and submicroscopic copy number variations (CNVs) were identified in amniocytes DNA samples from CHD fetuses using high-resolution CMA and copy number variation sequencing (CNV-Seq).Overall, 21 of 115 CHD fetuses (18.3%) referred for CMA had a pathogenic chromosomal anomaly. In six of 73 fetuses (8.2%) with an isolated CHD, CMA identified two cases of DiGeorge syndrome, and one case each of 1q21.1 microdeletion, 16p11.2 microdeletion and Angelman/Prader Willi syndromes, and 22q11.21 microduplication syndrome. In 12 of 42 fetuses (28.6%) with CHD and additional structural abnormalities, CMA identified eight whole or partial trisomies (19.0%), five CNVs (11.9%) associated with DiGeorge, Wolf-Hirschhorn, Miller-Dieker, Cri du Chat and Blepharophimosis, Ptosis, and Epicanthus Inversus syndromes and four other rare pathogenic CNVs (9.5%). Overall, there was a 100% diagnostic concordance between CMA and CNV-Seq for detecting all 21 pathogenic chromosomal abnormalities associated with CHD.CMA and CNV-Seq are reliable and accurate prenatal techniques for identifying pathogenic fetal chromosomal abnormalities associated with cardiac defects. 2016 John Wiley & Sons, Ltd.


PubMed | Zhengzhou University and Berry Genomics
Type: | Journal: Clinica chimica acta; international journal of clinical chemistry | Year: 2016

Plasma based EGFR mutation analysis is emerging as a viable alternative to tumour tissue genotyping for patients with non-small cell lung carcinoma (NSCLC). The purpose of the study was to determine the degree of concordance between EGFR genotypes derived from matching tissue and blood samples.EGFR activating mutations L858R, exon 19 deletions, G719A/C/S and L861Q as well as resistance mutations T790M and exon 20 insertions were co-analysed in 61 matching tissue and blood biopsies collected from NCSLC patients. Tissue and plasma genotyping was performed by amplification refractory mutation system PCR (ARMS-PCR) and circulating single molecule amplification and re-sequencing technology (cSMART), respectively.Of the 61 paired samples, 44 (72.1%) were fully concordant, 2 (3.3%) were partially concordant and 15 (24.6%) were discordant for EGFR genotypes. The discordance was bidirectional with tissue and plasma failing to reveal the equivalent mutation in eight and nine cases, respectively. Benchmarking against ARMS-PCR tissue biopsy results as the gold standard, the sensitivity and concordance rates for plasma mutation detection by cSMART assay were 72.7% and 90.2% (L858R), 72.7% and 86.9% (exon 19 deletions) and 100% and 98.4% (T790M).The cSMART assay was highly reliable and accurate for plasma EGFR genotyping. Based on discordance trends, tumour heterogeneity was suspected to be the major factor preventing a concordant diagnosis in matching samples.

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