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Items: 1 to 20 of 108

1.

Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases.

Pescia G, Guex N, Iseli C, Brennan L, Osteras M, Xenarios I, Farinelli L, Conrad B.

Genet Med. 2017 Feb;19(2):169-175. doi: 10.1038/gim.2016.72. Epub 2016 Jun 30.

2.

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM.

Am J Obstet Gynecol. 2017 Dec;217(6):691.e1-691.e6. doi: 10.1016/j.ajog.2017.10.005. Epub 2017 Oct 13.

3.

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.

Brison N, Van Den Bogaert K, Dehaspe L, van den Oever JM, Janssens K, Blaumeiser B, Peeters H, Van Esch H, Van Buggenhout G, Vogels A, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Genet Med. 2017 Mar;19(3):306-313. doi: 10.1038/gim.2016.113. Epub 2016 Sep 1.

PMID:
27584908
4.

Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies.

Li R, Wan J, Zhang Y, Fu F, Ou Y, Jing X, Li J, Li D, Liao C.

Ultrasound Obstet Gynecol. 2016 Jan;47(1):53-7. doi: 10.1002/uog.14911.

5.

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F.

Cochrane Database Syst Rev. 2017 Nov 10;11:CD011767. doi: 10.1002/14651858.CD011767.pub2. Review.

PMID:
29125628
6.

Contribution of maternal copy number variations to false-positive fetal trisomies detected by noninvasive prenatal testing.

Zhou X, Sui L, Xu Y, Song Y, Qi Q, Zhang J, Zhu H, Sun H, Tian F, Xu M, Cram DS, Liu J.

Prenat Diagn. 2017 Apr;37(4):318-322. doi: 10.1002/pd.5014. Epub 2017 Feb 24.

PMID:
28152582
7.

Non-invasive prenatal testing for fetal chromosomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center.

Lau TK, Cheung SW, Lo PS, Pursley AN, Chan MK, Jiang F, Zhang H, Wang W, Jong LF, Yuen OK, Chan HY, Chan WS, Choy KW.

Ultrasound Obstet Gynecol. 2014 Mar;43(3):254-64. doi: 10.1002/uog.13277. Epub 2014 Feb 10. Review.

8.

Copy number variation sequencing-based prenatal diagnosis using cell-free fetal DNA in amniotic fluid.

Qi Q, Lu S, Zhou X, Yao F, Hao N, Yin G, Li W, Bai J, Li N, Cram DS.

Prenat Diagn. 2016 Jun;36(6):576-83. doi: 10.1002/pd.4830. Epub 2016 May 17.

PMID:
27084671
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.

PMID:
24657131
10.

Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities.

Norton ME, Baer RJ, Wapner RJ, Kuppermann M, Jelliffe-Pawlowski LL, Currier RJ.

Am J Obstet Gynecol. 2016 Jun;214(6):727.e1-6. doi: 10.1016/j.ajog.2015.12.018. Epub 2015 Dec 18.

PMID:
26709085
11.

Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants.

Lefkowitz RB, Tynan JA, Liu T, Wu Y, Mazloom AR, Almasri E, Hogg G, Angkachatchai V, Zhao C, Grosu DS, McLennan G, Ehrich M.

Am J Obstet Gynecol. 2016 Aug;215(2):227.e1-227.e16. doi: 10.1016/j.ajog.2016.02.030. Epub 2016 Feb 17.

12.

Where have all the trisomies gone?

Palomaki GE, Lambert-Messerlian GM, Haddow JE.

Am J Obstet Gynecol. 2016 Nov;215(5):583-587.e1. doi: 10.1016/j.ajog.2016.06.046.

PMID:
27793310
13.

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.

Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M, Van der Veken L, Lichtenbelt K, Van den Bogaert K, Van Houdt J, Peeters H, Van Esch H, de Ravel T, Legius E, Devriendt K, Vermeesch JR.

Eur J Hum Genet. 2015 Oct;23(10):1286-93. doi: 10.1038/ejhg.2014.282. Epub 2015 Jan 14.

14.

[Diagnosis of aneuploidy with fluorescence in situ hybridization (FISH); value in pregnancies with increased risk for chromosome aberrations].

Ulmer R, Pfeiffer RA, Kollert A, Beinder E.

Z Geburtshilfe Neonatol. 2000 Jan-Feb;204(1):1-7. German.

PMID:
10721179
15.

Replacing the combined test by cell-free DNA testing in screening for trisomies 21, 18 and 13: impact on the diagnosis of other chromosomal abnormalities.

Syngelaki A, Pergament E, Homfray T, Akolekar R, Nicolaides KH.

Fetal Diagn Ther. 2014;35(3):174-84. doi: 10.1159/000358388. Epub 2014 Feb 8.

PMID:
24525399
16.

Screening for trisomies by cell-free DNA testing of maternal blood: consequences of a failed result.

Revello R, Sarno L, Ispas A, Akolekar R, Nicolaides KH.

Ultrasound Obstet Gynecol. 2016 Jun;47(6):698-704. doi: 10.1002/uog.15851. Epub 2016 Apr 25.

17.

Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies.

Langlois S, Duncan A; SOGC GENETICS COMMITTEE; CCMG PRENATAL DIAGNOSIS COMMITTEE.

J Obstet Gynaecol Can. 2011 Sep;33(9):955-960. doi: 10.1016/S1701-2163(16)35022-8. Review.

PMID:
21923994
18.

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.

19.

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.

20.

Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies.

Grati FR, Bajaj K, Zanatta V, Malvestiti F, Malvestiti B, Marcato L, Grimi B, Maggi F, Simoni G, Gross SJ, Ferreira J.

Prenat Diagn. 2017 Oct;37(10):1017-1027. doi: 10.1002/pd.5138. Epub 2017 Sep 6.

PMID:
28801976

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