Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting

Tiller, George E.; Kershberg, Hilary; Goff, John S.; Coffeen, Christin; Liao, Wayne; Sehnert, Amy J.

doi:10.1002/pd.4495

Cited by 24 publications

(31 citation statements)

References 23 publications

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“…While there is evidence that the accuracy of classification of autosomal aneuploidy by NIPT is high [Tiller et al, 2015], all professional guidelines currently require that NIPT results are confirmed with invasive testing before a pregnant woman makes a termination decision. NIPT has mainly been utilized as a screening method for women identified as high-risk (e.g., as a second-tier screening test), and it is just presently being introduced for screening of women with average-risk (e.g., as a first-tier screening test replacing current screening).…”

Section: Discussionmentioning

confidence: 99%

Media portrayal of non-invasive prenatal testing: a missing ethical dimension

Kamenova¹,

Ravitsky²,

McMullin³

et al. 2016

JCOM

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Non-invasive prenatal testing (NIPT) is an emerging technology for detecting chromosomal disorders in the fetus and mass media may have an impact on shaping the public understanding of its promise and challenges. We conducted a content analysis of 173 news reports to examine how NIPT was portrayed in English-language media sources between January 1 and December 31, 2013. Our analysis has shown that media emphasized the benefits and readiness of the technology, while overlooking uncertainty associated with its clinical use. Ethical concerns were rarely addressed in the news stories, which points to an important dimension missing in the media discourse. AbstractHealth communication; Representations of science and technology

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Section: Discussionmentioning

confidence: 99%

Media portrayal of non-invasive prenatal testing: a missing ethical dimension

Kamenova¹,

Ravitsky²,

McMullin³

et al. 2016

JCOM

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“…This argues against the concern that cfDNA screening would increase rates of pregnancy termination and support reports of patients' perspective regarding termination choices with cfDNA. 13 Despite the strong recommendation to confirm cfDNA results prior to making an irreversible pregnancy decision, some women chose termination without diagnostic testing. [9][10][11] In our study of 114 patients with positive cfDNA, 11/56 (19.6%) of those choosing termination of a singleton pregnancy OR selective reduction of a twin pregnancy for suspected autosomal trisomy did so without prenatal confirmation of karyotype.…”

Section: Discussionmentioning

confidence: 99%

“…[9][10][11] While the test performance characteristics have been validated, little is known about the clinical course and outcome for patients with a positive test result. [1][2][3][4][5][6]13 Proper counseling is essential to understanding the limitations of cfDNA as a screening test. [9][10][11] All women in our study received both pre-and post-test counseling, the majority by CGCs which is critical as implementation of this technology without proper counseling can lead to misunderstanding of the focused nature of the screen.…”

Section: Discussionmentioning

confidence: 99%

“…[9][10][11] The adoption of cfDNA has resulted in a decrease in invasive diagnostic testing and a decrease in referrals for genetic counseling, including those who are not appropriate candidates for cfDNA screening, underscoring the inherent risk in transitioning screening paradigms without complete education and assessment. [12][13][14] In this study, we report patient choices and clinical outcomes of a cohort of patients at two academic centers with positive cfDNA screen results.…”

Section: Introductionmentioning

confidence: 99%

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Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

et al. 2016

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Objective Evaluate patient choices and outcomes following positive cfDNA.Method Retrospective cohort study of women with positive cfDNA through two academic centers between March 2012 and December 2014. Patients were screened based on ACOG indications. Medical records reviewed for counseling, ultrasound findings, diagnostic testing, karyotype and outcome.Results CfDNA was positive in 114 women; 105 singletons and 9 twin pairs. CfDNA was positive for autosomal trisomy (21, 18, 13) in 96 (84.2%) and sex chromosome aneuploidy in 18 (15.8%). Certified genetic counselors performed 95% of post-cfDNA counseling. Prenatal diagnostic testing was pursued by 71/114 (62%). Karyotype was available in 91/105 (86.7%) singletons and confirmed aneuploidy in 75/91 (82.4%); the PPV of cfDNA with any ultrasound finding was 93.6% versus 58.6% without a finding. An abnormal sonographic finding was seen in 4/16 (25%) singletons with false positive cfDNA. Fetal termination occurred in 53/79 (67%) singletons and 3/5 (60%) twins with prenatal abnormal or unknown karyotype for autosomal trisomy. Eleven fetuses (11/56, 19.6%) were terminated for suspected autosomal trisomy without karyotype confirmation.Conclusion Patient choices following positive cfDNA are varied. Ultrasound modifies the PPV of cfDNA. Termination rates for aneuploidy are not higher than historical controls. Recommendation for karyotype confirmation prior to termination is not universally followed.

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“…As the timing, sensitivity and specificity of screening tests have improved, the utilization of invasive procedures, such as amniocentesis and chorionic villus sampling, by pregnant women has declined. 55, 56, 57, 58 These welcome advances also involve an unprecedented degree of complexity that has challenged our current approaches. 30, 59 …”

Section: Non-invasive Prenatal Screening (Nips) For Fetal Aneuploidiementioning

confidence: 99%

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders

Allen

Stoll

Bernhardt

2016

Seminars in Perinatology

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Genetic carrier screening, prenatal screening for aneuploidy and prenatal diagnostic testing have expanded dramatically over the past two decades. Driven in part by powerful market forces, new complex testing modalities have become available after limited clinical research. The responsibility for offering these tests lies primarily on the obstetrical care provider, and has become more burdensome as the number of testing options expands. Genetic testing in pregnancy is optional, and decisions about undergoing tests, as well as follow-up testing, should be informed and based on individual patients’ values and needs. Careful pre- and post-test counseling is central to supporting informed decision-making. This article explores three areas of technical expansion in genetic testing: expanded carrier screening, non-invasive prenatal screening for fetal aneuploidies using cell-free DNA, and diagnostic testing using fetal chromosomal microarray testing, and provides insights aimed at enabling the obstetrical practitioner to better support patients considering these tests.

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Women's views and the impact of noninvasive prenatal testing on procedures in a managed care setting

Abstract: This prospective study demonstrates a 62% reduction in invasive prenatal procedures after NIPT testing and finds safety, accuracy, and personal beliefs key to women's decision-making.

Cited by 24 publications

References 23 publications

Media portrayal of non-invasive prenatal testing: a missing ethical dimension

Media portrayal of non-invasive prenatal testing: a missing ethical dimension

Patient choice and clinical outcomes following positive noninvasive prenatal screening for aneuploidy with cell-free DNA (cfDNA)

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders

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