Literature DB >> 24875410

The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience.

K E Pettit1, A D Hull1, L Korty1, M C Jones1, D H Pretorius1.   

Abstract

OBJECTIVE: To characterize the patient population utilizing circulating cell-free fetal DNA (ccffDNA) testing at a large academic center and evaluate trends in the performance of invasive diagnostic procedures. STUDY
DESIGN: A retrospective cohort study of all patients who underwent cell-free DNA testing from May to December 2012 was performed. RESULT: During the study period, 206 patients had cell-free DNA testing. Of those, 75% (155/206) were of ages ⩾ 35 years. Of those undergoing ccffDNA testing, 41% had positive aneuploidy screening and 38% had abnormal ultrasound findings. Only 7% of the patients with negative ccffDNA testing opted for an invasive diagnostic procedure compared with 60% with positive testing (P<0.01). The rate of invasive procedures decreased from 5.9% of all visits to the center during a similar 8-month period in 2010 to 4.1% of all visits during the study period (P<0.01).
CONCLUSION: Our data suggest that ccffDNA testing leads to reduced uptake of invasive procedures.

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Year:  2014        PMID: 24875410     DOI: 10.1038/jp.2014.102

Source DB:  PubMed          Journal:  J Perinatol        ISSN: 0743-8346            Impact factor:   2.521


  21 in total

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

Authors:  M M Gil; M S Quezada; B Bregant; M Ferraro; K H Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  2013-06-07       Impact factor: 7.299

2.  The significance of the second trimester sonographic soft markers in pregnancies after normal first trimester screening.

Authors:  Marja Kaijomaa; Veli-Matti Ulander; Markku Ryynanen; Vedran Stefanovic
Journal:  Prenat Diagn       Date:  2013-04-29       Impact factor: 3.050

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

Authors:  K H Nicolaides; A Syngelaki; M Gil; V Atanasova; D Markova
Journal:  Prenat Diagn       Date:  2013-04-24       Impact factor: 3.050

4.  First-trimester contingent screening for trisomy 21 by biomarkers and maternal blood cell-free DNA testing.

Authors:  K H Nicolaides; D Wright; L C Poon; A Syngelaki; M M Gil
Journal:  Ultrasound Obstet Gynecol       Date:  2013-06-07       Impact factor: 7.299

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

Authors:  Rossa W K Chiu; Ranjit Akolekar; Yama W L Zheng; Tak Y Leung; Hao Sun; K C Allen Chan; Fiona M F Lun; Attie T J I Go; Elizabeth T Lau; William W K To; Wing C Leung; Rebecca Y K Tang; Sidney K C Au-Yeung; Helena Lam; Yu Y Kung; Xiuqing Zhang; John M G van Vugt; Ryoko Minekawa; Mary H Y Tang; Jun Wang; Cees B M Oudejans; Tze K Lau; Kypros H Nicolaides; Y M Dennis Lo
Journal:  BMJ       Date:  2011-01-11

6.  Pregnancy loss rates after midtrimester amniocentesis.

Authors:  Keith A Eddleman; Fergal D Malone; Lisa Sullivan; Kim Dukes; Richard L Berkowitz; Yara Kharbutli; T Flint Porter; David A Luthy; Christine H Comstock; George R Saade; Susan Klugman; Lorraine Dugoff; Sabrina D Craigo; Ilan E Timor-Tritsch; Stephen R Carr; Honor M Wolfe; Mary E D'Alton
Journal:  Obstet Gynecol       Date:  2006-11       Impact factor: 7.661

7.  Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening.

Authors:  Shilpa Chetty; Matthew J Garabedian; Mary E Norton
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

8.  Chromosomal microarray versus karyotyping for prenatal diagnosis.

Authors:  Ronald J Wapner; Christa Lese Martin; Brynn Levy; Blake C Ballif; Christine M Eng; Julia M Zachary; Melissa Savage; Lawrence D Platt; Daniel Saltzman; William A Grobman; Susan Klugman; Thomas Scholl; Joe Leigh Simpson; Kimberly McCall; Vimla S Aggarwal; Brian Bunke; Odelia Nahum; Ankita Patel; Allen N Lamb; Elizabeth A Thom; Arthur L Beaudet; David H Ledbetter; Lisa G Shaffer; Laird Jackson
Journal:  N Engl J Med       Date:  2012-12-06       Impact factor: 91.245

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

Authors:  Andrew B Sparks; Eric T Wang; Craig A Struble; Wade Barrett; Renee Stokowski; Celeste McBride; Jacob Zahn; Kevin Lee; Naiping Shen; Jigna Doshi; Michel Sun; Jill Garrison; Jay Sandler; Desiree Hollemon; Patrick Pattee; Aoy Tomita-Mitchell; Michael Mitchell; John Stuelpnagel; Ken Song; Arnold Oliphant
Journal:  Prenat Diagn       Date:  2012-01-06       Impact factor: 3.050

10.  DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

Authors:  Glenn E Palomaki; Cosmin Deciu; Edward M Kloza; Geralyn M Lambert-Messerlian; James E Haddow; Louis M Neveux; Mathias Ehrich; Dirk van den Boom; Allan T Bombard; Wayne W Grody; Stanley F Nelson; Jacob A Canick
Journal:  Genet Med       Date:  2012-02-02       Impact factor: 8.822

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  6 in total

Review 1.  Copy number variants, aneuploidies, and human disease.

Authors:  Christa Lese Martin; Brianne E Kirkpatrick; David H Ledbetter
Journal:  Clin Perinatol       Date:  2015-04-01       Impact factor: 3.430

Review 2.  Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Authors:  Mylène Badeau; Carmen Lindsay; Jonatan Blais; Leon Nshimyumukiza; Yemisi Takwoingi; Sylvie Langlois; France Légaré; Yves Giguère; Alexis F Turgeon; William Witteman; François Rousseau
Journal:  Cochrane Database Syst Rev       Date:  2017-11-10

3.  NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result.

Authors:  Julie L Piechan; Karrie A Hines; Daniel L Koller; Kristyne Stone; Kimberly Quaid; Wilfredo Torres-Martinez; Divya Wilson Mathews; Tatiana Foroud; Lola Cook
Journal:  J Genet Couns       Date:  2016-04-01       Impact factor: 2.537

4.  Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center.

Authors:  Whitney A Neufeld-Kaiser; Edith Y Cheng; Yajuan J Liu
Journal:  BMC Med       Date:  2015-06-02       Impact factor: 8.775

Review 5.  Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?

Authors:  Melissa Hill; Angela Barrett; Mahesh Choolani; Celine Lewis; Jane Fisher; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2017-12       Impact factor: 3.050

6.  Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age.

Authors:  Soo Min Kim; Hyun Hee Kim; You Jung Han; June Seek Choi; Hyun Mee Ryu; Seongwoo Yang; Min Hyoung Kim
Journal:  Obstet Gynecol Sci       Date:  2018-06-19
  6 in total

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