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Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors.

Dan S, Wang W, Ren J, Li Y, Hu H, Xu Z, Lau TK, Xie J, Zhao W, Huang H, Xie J, Sun L, Zhang X, Wang W, Liao S, Qiang R, Cao J, Zhang Q, Zhou Y, Zhu H, Zhong M, Guo Y, Lin L, Gao Z, Yao H, Zhang H, Zhao L, Jiang F, Chen F, Jiang H, Li S, Li Y, Wang J, Wang J, Duan T, Su Y, Zhang X.

Prenat Diagn. 2012 Dec;32(13):1225-32. doi: 10.1002/pd.4002. Epub 2012 Nov 9.


Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.

Porreco RP, Garite TJ, Maurel K, Marusiak B; Obstetrix Collaborative Research Network, Ehrich M, van den Boom D, Deciu C, Bombard A.

Am J Obstet Gynecol. 2014 Oct;211(4):365.e1-12. doi: 10.1016/j.ajog.2014.03.042. Epub 2014 Mar 19.


Detection of fetal sex chromosome aneuploidy by massively parallel sequencing of maternal plasma DNA: initial experience in a Chinese hospital.

Yao H, Jiang F, Hu H, Gao Y, Zhu Z, Zhang H, Wang Y, Guo Y, Liu L, Yuan Y, Zhou L, Wang J, Du B, Qu N, Zhang R, Dong Y, Xu H, Chen F, Jiang H, Liu Y, Zhang L, Tian Z, Liu Q, Zhang C, Pan X, Yang S, Zhao L, Wang W, Liang Z.

Ultrasound Obstet Gynecol. 2014 Jul;44(1):17-24. doi: 10.1002/uog.13361.


Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies.

Huang X, Zheng J, Chen M, Zhao Y, Zhang C, Liu L, Xie W, Shi S, Wei Y, Lei D, Xu C, Wu Q, Guo X, Shi X, Zhou Y, Liu Q, Gao Y, Jiang F, Zhang H, Su F, Ge H, Li X, Pan X, Chen S, Chen F, Fang Q, Jiang H, Lau TK, Wang W.

Prenat Diagn. 2014 Apr;34(4):335-40. doi: 10.1002/pd.4303. Epub 2014 Feb 3.


Comment on "Clinical application of massively parallel sequencing-based prenatal non-invasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors".

Kim S, Zhao C, Bombard AT, Cantor C, van den Boom D, Deciu C.

Prenat Diagn. 2013 Dec;33(13):1310-3. doi: 10.1002/pd.4231. No abstract available.


Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.

Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W.

Ultrasound Obstet Gynecol. 2015 May;45(5):530-8. doi: 10.1002/uog.14792. Epub 2015 Apr 8. Erratum in: Ultrasound Obstet Gynecol. 2015 Jul;46(1):130.


DNA sequencing versus standard prenatal aneuploidy screening.

Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, Oliver K, Rava RP, Sehnert AJ; CARE Study Group.

N Engl J Med. 2014 Feb 27;370(9):799-808. doi: 10.1056/NEJMoa1311037.


[Value of detection of cell-free fetal DNA in maternal plasma in the prenatal diagnosis of chromosomal abnormalities].

Wang SJ, Gao ZY, Lu YP, Li YL, You YQ, Zhang LW, Wang LX, Xu H.

Zhonghua Fu Chan Ke Za Zhi. 2012 Nov;47(11):808-12. Chinese.


Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population.

Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J.

Prenat Diagn. 2013 Jul;33(7):700-6. doi: 10.1002/pd.4160. Epub 2013 Jun 17.


Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population.

Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G.

Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6. doi: 10.1016/j.ajog.2012.08.033. Epub 2012 Sep 19.


Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing.

Liao C, Yin AH, Peng CF, Fu F, Yang JX, Li R, Chen YY, Luo DH, Zhang YL, Ou YM, Li J, Wu J, Mai MQ, Hou R, Wu F, Luo H, Li DZ, Liu HL, Zhang XZ, Zhang K.

Proc Natl Acad Sci U S A. 2014 May 20;111(20):7415-20. doi: 10.1073/pnas.1321997111. Epub 2014 May 5.


Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.

Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group.

Obstet Gynecol. 2012 May;119(5):890-901. doi: 10.1097/AOG.0b013e31824fb482. Erratum in: Obstet Gynecol. 2012 Oct;120(4):957.


[Clinical application of noninvasive prenatal diagnosis using cell free fetal DNA in maternal plasma].

Hou QF, Wu D, Chu Y, Kang B, Liao SX, Yang YL, Zhang CY, Zhang JX, Wu G.

Zhonghua Fu Chan Ke Za Zhi. 2012 Nov;47(11):813-7. Chinese.


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, Wüstemann M, Schulze B, Raabe-Meyer G, Hempel M, Schelling M, Ostermayer E, Langer-Freitag S, Burkhardt T, Zimmermann R, Schleicher T, Weil B, Schöck U, Smerdka P, Grömminger S, Kumar Y, Hofmann W.

Prenat Diagn. 2014 Feb;34(2):185-91. doi: 10.1002/pd.4278. Epub 2013 Dec 12.


Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience.

Zhou Q, Pan L, Chen S, Chen F, Hwang R, Yang X, Wang W, Jiang J, Xu J, Huang H, Xu C.

Prenat Diagn. 2014 Nov;34(11):1061-5. doi: 10.1002/pd.4428. Epub 2014 Jun 29.


Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study.

Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM.

BMJ. 2011 Jan 11;342:c7401. doi: 10.1136/bmj.c7401.


First-trimester screening for trisomies 21 and 18.

Wapner R, Thom E, Simpson JL, Pergament E, Silver R, Filkins K, Platt L, Mahoney M, Johnson A, Hogge WA, Wilson RD, Mohide P, Hershey D, Krantz D, Zachary J, Snijders R, Greene N, Sabbagha R, MacGregor S, Hill L, Gagnon A, Hallahan T, Jackson L; First Trimester Maternal Serum Biochemistry and Fetal Nuchal Translucency Screening (BUN) Study Group.

N Engl J Med. 2003 Oct 9;349(15):1405-13.


Fetal nasal bone in screening for trisomies 21, 18 and 13 and Turner syndrome at 11-13 weeks of gestation.

Kagan KO, Cicero S, Staboulidou I, Wright D, Nicolaides KH.

Ultrasound Obstet Gynecol. 2009 Mar;33(3):259-64. doi: 10.1002/uog.6318.


Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.

Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K.

Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1.

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