Literature DB >> 23723049

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

Joanne B Taylor1, Valerie Y Chock, Louanne Hudgins.   

Abstract

The objective of our study was to describe the clinical experience in offering noninvasive prenatal testing (NIPT) for aneuploidy to pregnant patients, highlighting the clinical utility, barriers to acceptance and limitations of this novel test. Data were collected from 961 patients offered NIPT from 3/1/12 to 9/30/12. Univariate and multivariate logistic regression analysis was performed. Twenty-eight percent of patients elected NIPT and 72 % declined. Women continue to elect less sensitive and less specific screening through biochemical markers and nuchal translucency. Women considering all options at average risk for aneuploidy were less likely to accept NIPT testing than women who had a risk adjustment from an ultrasound marker or routine screening test. In our multi-ethnic population, Filipina women were significantly less likely to elect NIPT compared to other ethnicities. Five percent of NIPT ordered failed analysis. Several chromosome abnormalities were detected through CVS or amniocentesis that would not have been detected by NIPT. Even though NIPT offers a non-invasive, highly sensitive and specific analysis for aneuploidy, the majority of women in our study declined this option. NIPT should be offered in the context of genetic counseling so that women understand the limitations of the testing and make an educated decision about the testing option best suited to their situation.

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Year:  2013        PMID: 23723049     DOI: 10.1007/s10897-013-9609-z

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


  18 in total

Review 1.  Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications.

Authors:  Alison Hall; A Bostanci; C F Wright
Journal:  Public Health Genomics       Date:  2010-04-15       Impact factor: 2.000

2.  Fear of pregnancy loss and fetal karyotyping: a place for third-trimester amniocentesis?

Authors:  Olivier Picone; Marie-Victoire Senat; Jonathan Rosenblatt; François Audibert; Gerard Tachdjian; Rene Frydman
Journal:  Fetal Diagn Ther       Date:  2007-10-09       Impact factor: 2.587

Review 3.  Non-invasive fetal sex determination: impact on clinical practice.

Authors:  Kirstin M Finning; Lyn S Chitty
Journal:  Semin Fetal Neonatal Med       Date:  2008-02-04       Impact factor: 3.926

4.  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

5.  Variables influencing pregnancy termination following prenatal diagnosis of fetal chromosome abnormalities.

Authors:  Anne Hawkins; Ana Stenzel; Joanne Taylor; Valerie Y Chock; Louanne Hudgins
Journal:  J Genet Couns       Date:  2012-09-23       Impact factor: 2.537

6.  Noninvasive prenatal diagnosis: pregnant women's interest and expected uptake.

Authors:  Reana Tischler; Louanne Hudgins; Yair J Blumenfeld; Henry T Greely; Kelly E Ormond
Journal:  Prenat Diagn       Date:  2011-10-26       Impact factor: 3.050

7.  The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA.

Authors:  Loes Kooij; Tjeerd Tymstra; Paul van den Berg
Journal:  Prenat Diagn       Date:  2009-02       Impact factor: 3.050

8.  Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A.

Authors:  K O Kagan; D Wright; A Baker; D Sahota; K H Nicolaides
Journal:  Ultrasound Obstet Gynecol       Date:  2008-06       Impact factor: 7.299

Review 9.  Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review.

Authors:  J M Green; J Hewison; H L Bekker; L D Bryant; H S Cuckle
Journal:  Health Technol Assess       Date:  2004-08       Impact factor: 4.014

10.  Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery.

Authors:  Celine Lewis; Melissa Hill; Heather Skirton; Lyn S Chitty
Journal:  Prenat Diagn       Date:  2012-05-10       Impact factor: 3.050

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  16 in total

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

Authors:  Julie M H Horsting; Stephen R Dlouhy; Katelyn Hanson; Kimberly Quaid; Shaochun Bai; Karrie A Hines
Journal:  J Genet Couns       Date:  2013-12-19       Impact factor: 2.537

2.  "Don't Want No Risk and Don't Want No Problems": Public Understandings of the Risks and Benefits of Non-Invasive Prenatal Testing in the United States.

Authors:  Megan Allyse; Lauren Carter Sayres; Taylor Goodspeed; Marsha Michie; Mildred K Cho
Journal:  AJOB Empir Bioeth       Date:  2015

3.  Non-invasive prenatal testing: UK genetic counselors' experiences and perspectives.

Authors:  Elizabeth Alexander; Susan Kelly; Lauren Kerzin-Storrar
Journal:  J Genet Couns       Date:  2014-10-15       Impact factor: 2.537

Review 4.  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

5.  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

Review 6.  Cell-Free DNA Screening: Complexities and Challenges of Clinical Implementation.

Authors:  Matthew R Grace; Emily Hardisty; Sarah K Dotters-Katz; Neeta L Vora; Jeffrey A Kuller
Journal:  Obstet Gynecol Surv       Date:  2016-08       Impact factor: 2.347

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.  Fetal gender and several cytokines are associated with the number of fetal cells in maternal blood--an observational study.

Authors:  Jacob Mørup Schlütter; Ida Kirkegaard; Olav Bjørn Petersen; Nanna Larsen; Britta Christensen; David M Hougaard; Steen Kølvraa; Niels Uldbjerg
Journal:  PLoS One       Date:  2014-09-04       Impact factor: 3.240

9.  Knowledge and future preference of Chinese women in a major public hospital in Hong Kong after undergoing non-invasive prenatal testing for positive aneuploidy screening: a questionnaire survey.

Authors:  Kam On Kou; Chung Fan Poon; Wai Ching Tse; Shui Lam Mak; Kwok Yin Leung
Journal:  BMC Pregnancy Childbirth       Date:  2015-09-02       Impact factor: 3.007

10.  A new model for providing cell-free DNA and risk assessment for chromosome abnormalities in a public hospital setting.

Authors:  Robert Wallerstein; Andrea Jelks; Matthew J Garabedian
Journal:  J Pregnancy       Date:  2014-07-02
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