Literature DB >> 24352524

Genetic counselors' experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy.

Julie M H Horsting1, Stephen R Dlouhy, Katelyn Hanson, Kimberly Quaid, Shaochun Bai, Karrie A Hines.   

Abstract

First identified in 1997, cell-free fetal DNA (cffDNA) has just recently been used to detect fetal aneuploidy of chromosomes 13, 18, and 21, showing its potential to revolutionize prenatal genetic testing as a non-invasive screening tool. Although this technological advancement is exciting and has certain medical applications, it has been unclear how it will be implemented in a clinical setting. Genetic counselors will likely be instrumental in answering that question, but to date, there is no published research regarding prenatal counselors' implementation of and experiences with cffDNA testing. We developed a 67 question survey to gather descriptive information from counselors regarding their personal opinions, experiences, thoughts, and concerns regarding the validity, usefulness, and implementation of this new technology. A total of 236 individuals completed a portion of the survey; not all respondents answered all questions. Qualitative questions complemented quantitative survey items, allowing respondents to voice their thoughts directly. Results indicate that counselors value cffDNA testing as a screening option but are concerned regarding how some obstetricians and patients make use of this testing. Further results, discussion, and practice implications are presented.

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Year:  2013        PMID: 24352524     DOI: 10.1007/s10897-013-9673-4

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  23 in total

Review 1.  The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis.

Authors:  Caroline F Wright; Hilary Burton
Journal:  Hum Reprod Update       Date:  2008-10-22       Impact factor: 15.610

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

Authors:  Diana W Bianchi; Lawrence D Platt; James D Goldberg; Alfred Z Abuhamad; Amy J Sehnert; Richard P Rava
Journal:  Obstet Gynecol       Date:  2012-05       Impact factor: 7.661

3.  Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy?

Authors:  Michael T Mennuti; Athena M Cherry; Jennifer J D Morrissette; Lorraine Dugoff
Journal:  Am J Obstet Gynecol       Date:  2013-03-22       Impact factor: 8.661

4.  Extreme values of maternal serum analytes in second trimester screening: looking beyond trisomy and NTD's.

Authors:  Elizabeth McPherson; Ginger D Thomas; Christopher Manlick; Christina A Zaleski; Kara K Reynolds; Kristen Rasmussen; Philip F Giampietro; Carmen Wiley; Maria Mascola
Journal:  J Genet Couns       Date:  2011-04-20       Impact factor: 2.537

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.  Non-invasive prenatal testing with cell-free DNA: US physician attitudes toward implementation in clinical practice.

Authors:  Thomas J Musci; Genevieve Fairbrother; Annette Batey; Jennifer Bruursema; Craig Struble; Ken Song
Journal:  Prenat Diagn       Date:  2013-03-22       Impact factor: 3.050

7.  Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors.

Authors:  Patricia L Devers; Amy Cronister; Kelly E Ormond; Flavia Facio; Campbell K Brasington; Pamela Flodman
Journal:  J Genet Couns       Date:  2013-01-22       Impact factor: 2.537

8.  NIPT in a clinical setting: an analysis of uptake in the first months of clinical availability.

Authors:  Joanne B Taylor; Valerie Y Chock; Louanne Hudgins
Journal:  J Genet Couns       Date:  2013-05-31       Impact factor: 2.537

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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  13 in total

1.  Genetic Counselors' Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians.

Authors:  Patricia K Agatisa; Mary Beth Mercer; Marissa Coleridge; Ruth M Farrell
Journal:  J Genet Couns       Date:  2018-06-27       Impact factor: 2.537

2.  Perspectives of Pregnant People and Clinicians on Noninvasive Prenatal Testing: A Systematic Review and Qualitative Meta-synthesis.

Authors:  Meredith Vanstone; Alexandra Cernat; Umair Majid; Forum Trivedi; Chanté De Freitas
Journal:  Ont Health Technol Assess Ser       Date:  2019-02-19

3.  Implementing Group Prenatal Counseling for Expanded Noninvasive Screening Options.

Authors:  Betsy L Gammon; Laura Otto; Myra Wick; Kristy Borowski; Megan Allyse
Journal:  J Genet Couns       Date:  2017-12-15       Impact factor: 2.537

Review 4.  Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.

Authors:  Jill Fonda Allen; Katie Stoll; Barbara A Bernhardt
Journal:  Semin Perinatol       Date:  2015-12-21       Impact factor: 3.300

5.  The Integration of Noninvasive Prenatal Screening into the Existing Prenatal Paradigm: a Survey of Current Genetic Counseling Practice.

Authors:  Emily Suskin; Laura Hercher; Kathleen Erskine Aaron; Komal Bajaj
Journal:  J Genet Couns       Date:  2016-02-15       Impact factor: 2.537

6.  Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners.

Authors:  Motoko Watanabe; Mari Matsuo; Masaki Ogawa; Toshitaka Uchiyama; Satoru Shimizu; Naoko Iwasaki; Akemi Yamauchi; Mari Urano; Hironao Numabe; Kayoko Saito
Journal:  J Genet Couns       Date:  2016-11-09       Impact factor: 2.537

7.  Spanish- and English-Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections.

Authors:  Erin Floyd; Megan A Allyse; Marsha Michie
Journal:  J Genet Couns       Date:  2016-01-07       Impact factor: 2.537

8.  Exploring genetic counselors' perceptions of usefulness and intentions to use refined risk models in clinical care based on the Technology Acceptance Model (TAM).

Authors:  Christopher Heinlen; Shelly R Hovick; Guy N Brock; Brett G Klamer; Amanda Ewart Toland; Leigha Senter
Journal:  J Genet Couns       Date:  2019-03-07       Impact factor: 2.537

9.  "I think we've got too many tests!": Prenatal providers' reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening.

Authors:  B L Gammon; S A Kraft; M Michie; M Allyse
Journal:  Ethics Med Public Health       Date:  2016 Jul-Sep

10.  Attitudes towards non-invasive prenatal testing for aneuploidy among US adults of reproductive age.

Authors:  M Allyse; L C Sayres; T A Goodspeed; M K Cho
Journal:  J Perinatol       Date:  2014-03-06       Impact factor: 2.521

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