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Streck Cell-free 游离DNA采血管用于NIPT

更新时间：2018-01-23 点击次数：5434次

NIPT：NIPT ，无创产前筛查，是利用大规模平行测序等技术对母体外周血中的游离 DNA 进行深度测序，获取胎儿染色体信息的方法。传统的产前筛查和诊断方法( 孕早期超声检查、孕中期血清学筛查、羊水细胞染色体核型分析) 均有一定的局限性，尤其穿刺法可能会伤害胎儿导致流产。随着新一代测序技术研究的深入，无创性胎儿基因检测得到了快速发展。

染色体非整倍体：染色体非整倍体是出生缺陷zui常见的遗传性病因，常见类型有 21-三体、18-三体、13-三体、X-三体等。患儿常表现为先天性非进行性智力障碍，生长发育迟缓和( 或)

合并畸形，目前尚无有效的治疗方法。

使用Streck Cell-free DNA BCT采血管进行无创产前筛查的文献：

使用Streck Cell-free DNA BCT采血管采集保存运输孕妇外周血样本。

使用PCR、高通量基因测序等检测方法分析母体血浆中的胎儿游离DNA。

分析是否有常见胎儿遗传病：三体综合征等。

参考文献：

张媛媛,刘晓亮,初国铭,崔婉婷,何蓉,赵彦艳.无创性胎儿常见染色体非整倍体筛查与结果分析[J].山东医药,2017,57(20):1-4.

史晓琳,张志涛,刘彩霞.胎儿染色体非整倍体无创基因检测在孕早期产前筛查的可行性临床应用研究[J].中国优生与遗传杂志,2014,22(03):44-47.

Cell-free DNA testing in the maternal blood in high-risk pregnancies after first trimester combined screening

Persico N., Boito S., Ischia B., Cordisco A., De Robertis V., Fabietti I., et al.

Prenatal Diagnosis, 2016.

关键词：游离DNA 孕妇外周血高风险妊娠

Application of risk score analysis to low‑coverage whole genome sequencing data for the noninvasive detection of trisomy 21, trisomy 18, and trisomy 13

Tynan J.A., Kim S.K., Mazloom A.R., Zhao C., McLennan G., Tim R., et al.

Prenatal Diagnosis, 2015.

关键词：全基因组测序 NIPT 三体综合征21,18,13

Cell-free DNA analysis for noninvasive examination of trisomy

Norton M.E., Jacobsson B., Swamy G., Laurant L.C., Ranzini A.C., Brar H., et al.

The New England Journal of Medicine, 2015.

关键词：游离DNA NIPT 三体

Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination

Benachi A., Letourneau A., Kleinfinger P., Senat M.V.,

Gautier E., Favre R., et al. Obstetrics and Gynecology, 2015.

关键词：游离DNA 超声波

Clinical performance of non-invasive prenatal testing (NIPT) using targeted cell-free DNA analysis in maternal plasma with microarrays or next generation sequencing (NGS) is consistent across multiple controlled clinical studies

Stokowski R., Wang E., White K., Batey A., Jacobsson B., Brar H., et al.

Prenatal Diagnosis, 2015.

关键词：NIPT 靶向游离DNA分析孕妇外周血微阵列 NGS 临床研究

Fetal fraction of cell-free DNA in maternal plasma in the prediction of spontaneous preterm delivery

Quezada M.S., Francisco C., Dumitrascu-Biris D., Nicolaides K.H., Poon L.C.

Ultrasound in Obstetrics & Gynecology, 2015.

关键词：母体血浆游离DNA

Fetal sex and RHD genotyping with digital PCR demonstrates greater sensitivity than real-time PCR

Silence K.A., Roberts L.A., Hollands H.J., Thompson H.P., Kiernan M., Madgett T.E., et al.

Clinical Chemistry, 2015.

关键词：PCR 基因表型 RHD

Noninvasive fetal genotyping of human plaet antigen-1a using targeted massively parallel sequencing

Wienzek-Lischka S., Krautwurst A., Frohner V., Hackstein H., Gattenlohner S., Brauninger A., et al.

Transfusion, 2015.

关键词：NIPT 基因表型血小板抗原靶向测序

Performance of Momguard, a new non-invasive prenatal testing protocol developed in Korea

Lee M., Cho D., Won H., Hwang A., Jeong B., Kim J., et al. Obstetrics and Gynecology Science, 2015.

关键词：NIPT

Placental mosaicism for trisomy 13: a challenge in providing the cell-free fetal DNA testing

Liu X.Y., Zhang H.G., Wang R.X., Chen S., Yu X.W., Liu R.Z. Journal of Assisted Reproduction and Genetics, 2014.

关键词：三体综合征游离DNA

Screening for trisomies 21, 18 and 13 by cell-free DNA analysis of maternal blood at 10-11 weeks’ gestation and the combined test at 11-13 weeks

Quezada M.S., Gil M.M., Francisco C., Orosz G., Nicolaides K.H. Ultrasound in Obstetrics & Gynecology, 2015.

关键词：三体综合征游离DNA 孕妇外周血

The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform

Jeon J.Y., Zhou Y., Li Y., Guo Q., Chen J., Quan S., et al. PLoS One, 2014.

关键词：NIPT 半导体测序法

Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies

Gil, M.D., Quezada M.S., Bregant B., Syngelaki A., Nicolaides K.H. Fetal Diagnosis and Therapy, 2014.

关键词：游离DNA 三体双胞胎风险筛查

Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe

Stumm M., Entezami M., Haug K., Blank C., Wustemann M., Schulze B., et al.

Prenatal Diagnosis, 2014.

关键词：NIPT 平行测序

UK NHS pilot study on cell-free DNA testing in screening for fetal trisomies: factors affecting uptake

Gil M.M., Giunta G., Macalli A., Poon L.C., Nicolaides K.H. Ultrasound in Obstetrics & Gynecology, 2014.

关键词：游离DNA 胎儿三体筛查

Akonni TruTip and Qiagen methods for extraction of fetal circulating DNA-evaluation by real-time and digital PCR

Holmberg R.C., Gindlesperger A., Stokes T., Lopez D., Hyman L., Freed M., et al.

PLoS One, 2013.

关键词：循环DNA PCR

Microarray-based cell-free DNA analysis improves noninvasive prenatal testing

Juneau K., Bogard P.E., Huang S., Mohensi M., Wang E.T., Ryvkin P., et al.

Fetal Diagnosis and Therapy, 2014.

关键词：微阵列游离DNA NIPT

Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population

Fairbrother G., Johnson S., Musci T.J., Song K. Prenatal Diagnosis, 2013.

关键词：NIPT 游离DNA 三体综合征

Non-invasive prenatal chromosomal aneuploidy testing – clinical experience: 100,000

clinical samples

McCullough R.M., Almasri E.A., Guan X., Geis J.A., Hicks S.C., Mazloom A.M., et al.

PLoS One, 2014.

关键词：NIPT 染色体非整倍体检测临床

Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fractions

Hooks J., Wolfberg A.J., Wang E.T., Struble C.A., Zahn J., Juneau K., et al.

Prenatal Diagnosis, 2014.

关键词：NIPT 风险评估胎儿性染色体非整倍体

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies

Bevilacqua E., Gil M.M, Nicolaides K.H., Ordonez E., Cirigliano V., Dierickx H., et al.

Ultrasound in Obstetrics & Gynecology, 2014.

关键词：游离DNA 孕妇外周血双胞胎产前筛查

European non-invasive trisomy evaluation (EU‑NITE) study: a multicenter prospective CoHort study for noninvasive fetal trisomy 21 testing

Verweij E.J., Jacobsson B., van Scheltema P.A., de Boer M.A., Hoffer M.J.V., Hollemon D., et al.

Prenatal Diagnosis, 2013.

关键词：NIPT 三体综合征21

Gestational age and maternal weight effects on fetal cfDNA in maternal plasma

Wang E., Batey A., Struble C., Musci T., Song K., Oliphant A. Prenatal Diagnosis, 2013.

关键词：cfDNA

High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma

Jensen T.J., Zwiefelhofer T., Tim R.C., Dzakula Z., Kim S.K., Mazloom A.R., et al.

PLoS One, 2013.

关键词：高通量测序胎儿染色体非整倍体母体血浆

Implementation of maternal blood cell-free DNA testing in early screening for aneuploidies

Gil M.M., Quezada M.S., Bregant B., Ferraro M.,

Nicolaides K.H.

Ultrasound Obstetrics & Gynecology, 2013.

关键词：cfDNA 染色体非整倍体早期筛查

Influence of temperature during transportation on cell-free DNA analysis

Hidestrand M., Stokowski R., Song K., Oliphant A., Deavers J., Goetsch M., et al.

Fetal Diagnosis and Therapy, 2012.

关键词：温度影响 cfDNA运送

Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

Futch T., Spinosa J., Bhatt S., de Feo E., Rava R.P., Sehnert A.J. Prenatal Diagnosis, 2013.

关键词：NIPT（无创产前筛查）胎儿染色体非整倍体

Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing

Wang Y., Chen Y., Tian F., Zhang J., Song Z., Wu Y., et al. Clinical Chemistry, 2013.

关键词：性染色体非整倍体无创产前检测母体染色体嵌合

Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing

Wong D., Moturi S., Angkachatchai V., Mueller R., DeSantis G., van den Boom D., et al.

Clinical Biochemistry, 2013.

关键词：血液采集运输保存 cfDNA 产前检测

SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

Samango-Sprouse C., Banjevic M., Ryan A., Sigurjonsson S., Zimmermann B., Hill M., et al.

Prenatal Diagnosis, 2013.

关键词：SNP 无创产前检测性染色体非整倍体

Non-invasive chromosomal evaluation (NICE) study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

Norton M.E., Brar H., Weiss J., Karimi A., Laurent L.C., Caughey A.B., et al.

American Journal of Obstetrics & Gynecology, 2012.

关键词：无创染色体检查三体综合征21 18

Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

Sparks A.B., Struble C.A., Wang E.T., Song K., Oliphant A. American Journal of Obstetrics & Gynecology, 2012.

关键词：无创产前检测游离DNA三体综合征 21,18

Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy

Sparks A.B., Wang E.T., Struble C.A., Barrett W., Stokowski R., McBride C., et al.

Prenatal Diagnosis, 2012.

关键词：cfDNA 胎儿三体综合征

The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy

Brar H., Wang E., Struble C., Musci T.J., Norton M.E.

The Journal of Maternal-Fetal and Neonatal Medicine, 2012.

关键词：cfDNA 孕妇外周血胎儿三体综合征

Trisomy 13 detection in the first trimeters of pregnancy using a chromosome-selective cell‑free DNA analysis method

Ashoor G., Syngelaki A., Wang E., Struble C., Oliphant A., Song K., et al.

Ultrasound in Obstetrics & Gynecology, 2013.

关键词：三体综合征13 cfDNA

DNA sequencing of maternal plasma to detect Down Syndrome: an international clinical validation study

Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Neveux L.M., Ehrich M., et al.

Genetics in Medicine, 2011.

关键词：DNA测序孕妇外周血唐氏综合征临床

Validation of targeted sequencing of single‑nucleotide polymorphisms for non‑invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X and Y

Nicolaides K., Syngelaki A., Gil M., Atanasova V., Markova D. Prenatal Diagnosis, 2013.

关键词：

Implementing prenatal diagnosis based on cell‑free fetal DNA: accurate identification of factors affecting fetal DNA yield

Barrett A.N., Zimmermann B.G., Wang D., Holloway A., Chitty L.S. Clinical Chemistry, 2011.

关键词：产前诊断胎儿游离DNA