Literature DB >> 26879922

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

Emily Suskin1, Laura Hercher2, Kathleen Erskine Aaron3, Komal Bajaj3,4.   

Abstract

Since its introduction four years ago, noninvasive prenatal screening for fetal aneuploidy (NIPS) has been widely adopted as a screening tool for women at a high risk for fetal aneuploidy. As use expands into the general population, questions arise concerning the integration of NIPS into preexisting screening paradigms. This study aims to examine the use of NIPS in current practice among prenatal counselors, predominantly in the United States, in order to inform strategies for the optimal use of both new and existing screening techniques. We electronically surveyed 208 members of the National Society of Genetic Counselors to ascertain how NIPS is currently being used. Genetic counselors were also queried as to the advantages and disadvantages of offering NIPS to all patients regardless of a priori risk. Results indicate substantial variation in practice regarding which patients are offered NIPS and how counselors have incorporated this technology into existing screening routines. The majority of participants report offering NIPS in conjunction with another method of screening for fetal aneuploidy, indicating that NIPS is being used as an addition rather than as a replacement. These screening methods primarily include nuchal translucency (NT) (45.1 %, n = 78) and first trimester serum screening, with or without an NT (19.7 %, n = 34). Furthermore, the majority report that they would be concerned about losing the clinical value of an NT in a complete transition to NIPS (85.4 %, n = 164). Counselors are evenly split on the merits of expanding the use of NIPS to the general population (con: 55.3 %, n = 105; pro: 44.7 %, n = 85). The lack of consensus suggests that updated practice guidelines might benefit counselors. In addition, respondents emphasized the need to better educate patients and providers about the risks, benefits, and limitations of the test.

Entities:  

Keywords:  Aneuploidy; Cell-free DNA; Genetic counseling; Non-invasive prenatal testing; Noninvasive prenatal screening; Prenatal screening

Mesh:

Year:  2016        PMID: 26879922     DOI: 10.1007/s10897-016-9934-0

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


  45 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.  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

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

Authors:  H Zhang; Y Gao; F Jiang; M Fu; Y Yuan; Y Guo; Z Zhu; M Lin; Q Liu; Z Tian; H Zhang; F Chen; T K Lau; L Zhao; X Yi; Y Yin; W Wang
Journal:  Ultrasound Obstet Gynecol       Date:  2015-04-08       Impact factor: 7.299

4.  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

5.  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

6.  Changing to NIPT as a first-tier screening test and future perspectives: opinions of health professionals.

Authors:  Saskia Tamminga; Rachèl V van Schendel; Wieke Rommers; Caterina M Bilardo; Eva Pajkrt; Wybo J Dondorp; Merel van Maarle; Martina C Cornel; Lidewij Henneman
Journal:  Prenat Diagn       Date:  2015-10-25       Impact factor: 3.050

7.  Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort.

Authors:  Eugene Pergament; Howard Cuckle; Bernhard Zimmermann; Milena Banjevic; Styrmir Sigurjonsson; Allison Ryan; Megan P Hall; Michael Dodd; Phil Lacroute; Melissa Stosic; Nikhil Chopra; Nathan Hunkapiller; Dennis E Prosen; Sallie McAdoo; Zachary Demko; Asim Siddiqui; Matthew Hill; Matthew Rabinowitz
Journal:  Obstet Gynecol       Date:  2014-08       Impact factor: 7.661

8.  NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

Authors:  K L Wilson; J L Czerwinski; J M Hoskovec; S J Noblin; C M Sullivan; A Harbison; M W Campion; K Devary; P Devers; C N Singletary
Journal:  J Genet Couns       Date:  2012-11-22       Impact factor: 2.537

9.  A Cost-Effectiveness Analysis of First Trimester Non-Invasive Prenatal Screening for Fetal Trisomies in the United States.

Authors:  Brandon S Walker; Richard E Nelson; Brian R Jackson; David G Grenache; Edward R Ashwood; Robert L Schmidt
Journal:  PLoS One       Date:  2015-07-02       Impact factor: 3.240

10.  An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.

Authors:  Peter Benn; Kirsten J Curnow; Steven Chapman; Steven N Michalopoulos; John Hornberger; Matthew Rabinowitz
Journal:  PLoS One       Date:  2015-07-09       Impact factor: 3.240

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  4 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

4.  Decision-making for prenatal genetic screening: how will pregnant women navigate a growing number of aneuploidy and carrier screening options?

Authors:  Ruth M Farrell; Madelyn Pierce; Christina Collart; Meng Yao; Marissa Coleridge; Edward K Chien; Susannah S Rose; Mary Lintel; Uma Perni; Brownsyne Tucker Edmonds
Journal:  BMC Pregnancy Childbirth       Date:  2021-12-04       Impact factor: 3.007

  4 in total

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