貝比安相關文獻

技術研究

Bianchi DW, Platt LD, Goldberg JD,et al. Genome-Wide Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing. Obstet Gynecol.2012 May;119(5):890-901.

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Chan K, Yam I, Leung KY,et al. Detection of paternal alleles in maternal plasma for noninvasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese. Eur J Obstet Gynecol Reprod Biol.2010 May;150(1):28-33.

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Chiu RW, Chan KC, Gao Y,et al.Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A.2008 Dec 23;105(51):20458-63.

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Fan HC, Blumenfeld YJ, Chitkara,et al. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A.2008 Oct 21;105(42):16266-71.

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Lau, T.K., Jiang, F.M., et al.Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service.  Prenat Diagn. 2013 Jun;33(6):602-8.

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Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum.Lancet.1997 Aug 16;350(9076):485-7.

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Nicolaides KH, Syngelaki A, Ashoor G,et al. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6.

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Srinivasan A, Bianchi DW, Huang , et al.Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma. Am J Hum Genet.2013 Feb 7;92(2):167-76.

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Wang E, Batey A, Struble C, et al.Gestational Age and Maternal Weight Effects on Fetal cffDNA in Maternal Plasma. Prenat Diagn.2013 Jul;33(7):662-6.

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Zimmermann B, Hill M, Gemelos G,  et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18,21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012 Dec;32(13):1233-41.

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Mantzaris D, Cram DS. Syncytiotrophoblasts from the cervical mucus for early prenatal diagnosis: evidence of a vanishing twin. Clinica Chimica Acta 2015;438:309-315.

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臨床試驗

Futch T, Spinosa J, Bhatt S,  et al.Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn. 2013 Jun;33(6):569-74.

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Liang D, Lv W, Wang H, Xu L,et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn.2013 May;33(5):409-15.

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Mazloom AR, Džakula Ž, Oeth P, et al. Noninvasive Prenatal Detection of Sex Chromosomal Aneuploidies by Sequencing Circulating Cell-Free DNA from Maternal Plasma.Prenat Diagn.2013 Jun;33(6):591-7.

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Norton ME, Brar H, Weiss J, et al.Non-Invasive Chromosomal Evaluation (NICE) study: results of a multicenter, prospective, Cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol.2012 Aug;207(2):137.

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Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al.DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20.

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Palomaki GE, Deciu C, Kloza EM, et al.DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.Genet Med.2012 Mar;14(3):296-305.

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Shaw SW, Hsiao CH, Chen CY, et al.Noninvasive prenatal testing for whole fetal chromosomal aneuploidies: A multicentre prospective cohort trial in Taiwan.Fetal Diagn Ther.2014;35(1):13-7.

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Song Y, Liu C, Qi H,et al. Non invasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective chinese population.Prenat Diagn.2013 Jul;33(7):700-6.

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Sparks AB, Struble CA, Wang ET,et al.Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18.Am J Obstet Gynecol.2012 Apr;206(4):319.e1-9.

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Lv W, Wei X, Guo R,et al.Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART).Clin Chem. 2015 Jan;61(1):172-81.

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Wang S, Huang S, Ma L, Liang L, Zhang J, Zhang J, Cram DS. X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing. Clinica Chimica Acta 2015;444:113-116.

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Ma J, Cram DS, Zhang J, Shang L, Yang H, Hong P (2015). Birth of a child with mosaic trisomy 9 syndrome associated with paternal uniparental disomy: a case of discordant results between non-invasive and invasive testing. Molecular Cytogenetics 8:44.

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臨床指導意見

邊旭明,蔣宇林,戚慶炜(2012)。産前診斷,走中國自己的道路。中華婦産科雜志第47卷801-803

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Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy.American College of Obstetricians and Gynecologists Committee on Genetics. Obstet Gynecol. 2012 Dec;120(6):1532-4.

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Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Waston MS. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013 May;15(5):395-8. doi:10.1038/gim.2013.29.Epub 2013 Apr 4.

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Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P.Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Couns. 2013 Jun;22(3):291-5.

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Benn P, Borell A, et al. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Societyfor Prenatal Diagnosis. Prenat Diagn. 2013 Jul;33(7):622-9.

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Salomon LJ, Alfirevic Z, Audibert F, Kaqan KO, Yeo G, Raine-Fenning N; ISUOG Clinical Standards Committee. ISUOG consensus statement on the impact of non-invasive prenatal testing(NIPT) on prenatal ultrsoundpractice.Ultrasound Obstet Gynecol. 2014 Jul;44(1):122-3.

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科諾安相關文獻

貝瑞和康發表文獻

 

Wang Y, Chen Y,et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem. 2014 Jan;60(1):251-9.

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Liang D, Peng Y, et al.Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.J Mol Diagn.2014 Sep;16(5):519-26.

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參考文獻

Ronald J. Wapner, Christa Lese Martin, Brynn Levy, et al. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84.

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Van den Berg MM, van Maarle MC, van Wely M, Goddijn M. Genetics of early miscarriage. Biochim Biophys Acta. 2012 Dec;1822(12):1951-9.

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 Blumberg SJ, Bramlett MD. et al. Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011-     2012. Natl Health Stat Report.2013 Mar 20;(65):1-11.

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Devlin B, and Scherer SW. Genetic Architecture in Autism Spectrum Disorder.Curr Opin Genet Dev.2012 Jun;22(3):229-37.

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科孕安相關文獻

貝瑞和康發表文獻

Wang L,Wang X,Zhang J, et al.Detection of chromosomal aneuploidy in human preimplantation embryos by next-generation sequencing. Biol Reprod. 2014 May 8;90(5):95.

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Wang L,Cram DS,Shen J,et al.Validation of copy number variation sequencing for detecting chromosome imbalances in human preimplantation embryos. Biol Reprod. 2014 Aug;91(2):37.

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Wang H, Wang L, Ma M, Song Z, Zhang J, Xu G, Fan J, Li N, Cram DS, Yao Y. A PGD pregnancy achieved by embryo copy number variation sequencing with confirmation by noninvasive prenatal diagnosis. Journal of Genetics and Genomics 2014;41:453-456.

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Li N, Wang L, Wang H, Ma M, Wang X. Li Y, Wang S, Zhang W, Zhang J, Cram DS, Yao Y. The performance of whole genome amplification methods and next generation sequencing for pre-implantation genetic diagnosis of chromosomal abnormalities. Journal of Genetics and Genomics 2015;42:151-159 .

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Fan J, Wang L, Wang H, Ma M, Wang S, Liu Z, Xu G, Zhang J, Cram DS, Yao Y. The clinical utility of next generation sequencing for identifying chromosome disease syndromes in human embryos. Reproductive Biomedicine Online. Online May 2015.

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參考文獻

Brooke Hodes-Wertz, Jamie Grifo, et al. Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos. Fertil Steril. 2012;98(3):675-80.

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Yang Z, Liu J, Collins GS,. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet. 2012;5(1):24.

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Martin D. Keltz, Mario Vega, et al.Preimplantation genetic screening (PGS) with Comparative genomic hybridization (CGH) following day 3 single cell blastomere biopsy markedly improves IVF outcomes while lowering multiple pregnancies and miscarriages. J Assist Reprod Genet. 2013 Oct;30(10):1333-9.

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Yang Z, Salem S.A, Liu  X, et al. Selection of euploid blastocysts for cryopreservation with array comparative genomic hybridization (aCGH) results in increased implantation rates in subsequent frozen and thawed embryo transfer cycles. Mol. Cytogenet.2013 Aug 9;6(1):32.

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Zheng Y.M, Wang N, Li L, Jin F,. Whole genome amplification in preimplantation genetic diagnosis. J. Zhejiang Univ.2011 Jan;12(1):1-11.

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Treff N.R, Northrop L.E, et al.Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos.Fertil Steril. 2011 Apr;95(5):1606-12.e1-2.

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Tan Y.Q, Tan K, Zhang S.P,et al.Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers.Hum Reprod. 2013 Sep;28(9):2581-92.

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昂科益相關文獻

貝瑞和康發表文獻

Lv, W., et al., Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART). Clin Chem, 2015. 61(1): p. 172-81.

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Chai X, Ren P, Wei B,et al. A comparative study of EGFR oncogenic mutations in matching tissue and plasma samples frompatients with advanced non-small cell lung carcinoma. Clin Chim Acta. 2016 Jun 1;457:106-11.

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Zhang S, Xia B, Jiang H,et al. Comprehensive profiling and quantitation of oncogenic mutations in non small-cell lung carcinoma using single molecule amplification and re-sequencing technology. Oncotarget. 2016 Aug 2;7(31):50477-50489.

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Wang Z, Cheng G, Han X,et al. Application of Single-Molecule Amplification and Resequencing Technology for Broad Surveillance of Plasma Mutations in Patients with Advanced Lung Adenocarcinoma. J Mol Diagn. 2017 Jan;19(1):169-181.

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參考文獻

Ye, X., et al., High T790M detection rate in TKI-naive NSCLC with EGFR sensitive mutation: truth or artifact? J Thorac Oncol, 2013. 8(9): p. 1118-20.

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Diaz, L.A., Jr. and A. Bardelli, Liquid biopsies: genotyping circulating tumor DNA. J Clin Oncol, 2014. 32(6): p. 579-86.

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Li, T., et al., Genotyping and genomic profiling of non-small-cell lung cancer: implications for current and future therapies. J Clin Oncol, 2013. 31(8): p. 1039-49.

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