NIPT：NIPT ，無創(chuàng)產(chǎn)前篩查，是利用大規(guī)模平行測序等技術(shù)對母體外周血中的游離 DNA 進(jìn)行深度測序，獲取胎兒染色體信息的方法。傳統(tǒng)的產(chǎn)前篩查和診斷方法( 孕早期超聲檢查、孕中期血清學(xué)篩查、羊水細(xì)胞染色體核型分析) 均有一定的局限性，尤其穿刺法可能會傷害胎兒導(dǎo)致流產(chǎn)。隨著新一代測序技術(shù)研究的深入，無創(chuàng)性胎兒基因檢測得到了快速發(fā)展。

染色體非整倍體：染色體非整倍體是出生缺陷zui常見的遺傳性病 因，常見類型有 21-三體、18-三體、13-三體、X-三體等?；純撼１憩F(xiàn)為先天性非進(jìn)行性智力障礙，生長發(fā)育遲緩和( 或)

合并畸形，目前尚無有效的治療方法。

使用Streck Cell-free DNA BCT采血管進(jìn)行無創(chuàng)產(chǎn)前篩查的文獻(xiàn)：

使用Streck Cell-free DNA BCT采血管采集保存運(yùn)輸孕婦外周血樣本。

使用PCR、高通量基因測序等檢測方法分析母體血漿中的胎兒游離DNA。

分析是否有常見胎兒遺傳?。喝w綜合征等。

參考文獻(xiàn)：

張媛媛,劉曉亮,初國銘,崔婉婷,何蓉,趙彥艷.無創(chuàng)性胎兒常見染色體非整倍體篩查與結(jié)果分析[J].山東醫(yī)藥,2017,57(20):1-4.

史曉琳,張志濤,劉彩霞.胎兒染色體非整倍體無創(chuàng)基因檢測在孕早期產(chǎn)前篩查的可行性臨床應(yīng)用研究[J].中國優(yōu)生與遺傳雜志,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.

關(guān)鍵詞：游離DNA 孕婦外周血 高風(fēng)險妊娠

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.

關(guān)鍵詞：全基因組測序 NIPT 三體綜合征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.

關(guān)鍵詞：游離DNA NIPT 三體

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.

關(guān)鍵詞：游離DNA 超聲波

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.

關(guān)鍵詞：NIPT 靶向游離DNA分析 孕婦外周血 微陣列 NGS 臨床研究

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.

關(guān)鍵詞：母體血漿 游離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.

關(guān)鍵詞：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.

關(guān)鍵詞：NIPT 基因表型 血小板抗原 靶向測序

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.

關(guān)鍵詞：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.

關(guān)鍵詞：三體綜合征 游離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.

關(guān)鍵詞：三體綜合征 游離DNA 孕婦外周血

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.

關(guān)鍵詞：NIPT 半導(dǎo)體測序法

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.

關(guān)鍵詞：游離DNA 三體 雙胞胎 風(fēng)險篩查

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.

關(guān)鍵詞：NIPT 平行測序

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.

關(guān)鍵詞：游離DNA 胎兒三體篩查

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.

關(guān)鍵詞：循環(huán)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.

關(guān)鍵詞：微陣列 游離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.

關(guān)鍵詞：NIPT 游離DNA 三體綜合征

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.

關(guān)鍵詞：NIPT 染色體非整倍體檢測 臨床

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.

關(guān)鍵詞：NIPT 風(fēng)險評估 胎兒性染色體非整倍體

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.

關(guān)鍵詞： 游離DNA 孕婦外周血 雙胞胎 產(chǎn)前篩查

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.

關(guān)鍵詞：NIPT 三體綜合征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.

關(guān)鍵詞：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.

關(guān)鍵詞：高通量測序 胎兒染色體非整倍體 母體血漿

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.

關(guān)鍵詞：cfDNA 染色體非整倍體 早期篩查

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.

關(guān)鍵詞：溫度影響 cfDNA運(yùn)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.

關(guān)鍵詞：NIPT（無創(chuàng)產(chǎn)前篩查） 胎兒染色體非整倍體

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.

關(guān)鍵詞：性染色體非整倍體 無創(chuàng)產(chǎn)前檢測 母體染色體嵌合

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.

關(guān)鍵詞：血液采集 運(yùn)輸 保存 cfDNA 產(chǎn)前檢測

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.

關(guān)鍵詞：SNP 無創(chuàng)產(chǎn)前檢測 性染色體非整倍體

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.

關(guān)鍵詞：無創(chuàng)染色體檢查 三體綜合征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.

關(guān)鍵詞：無創(chuàng)產(chǎn)前檢測 游離DNA三體綜合征 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.

關(guān)鍵詞：cfDNA 胎兒三體綜合征

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.

關(guān)鍵詞：cfDNA 孕婦外周血 胎兒三體綜合征

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.

關(guān)鍵詞：三體綜合征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.

關(guān)鍵詞：DNA測序 孕婦外周血 唐氏綜合征 臨床

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.

關(guān)鍵詞：

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.

關(guān)鍵詞：產(chǎn)前診斷 胎兒游離DNA

Streck Cell-Free DNA BCT® 血漿游離DNA采血管

產(chǎn)品英文名稱：Streck Cell-Free DNA BCT® BLOOD COLLECTION TUBE

產(chǎn)品中文名稱：Streck BCT® 血漿游離DNA采血管

Streck 血漿游離DNA采血管是一種直接提取的全血收集管，用于收集、運(yùn)輸和儲存血液樣本。Streck 血漿游離DNA采血管內(nèi)含防腐劑，它能穩(wěn)定有核血細(xì)胞，防止細(xì)胞基因組DNA的釋放，保護(hù)血漿游離循環(huán)DNA和循環(huán)腫瘤細(xì)胞（CTC）。

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