NIPT: current utilization and implications for the future of prenatal genetic counseling

Buchanan, Amanda; Sachs, Amy; Toler, Tomi L.; Tsipis, Judith

doi:10.1002/pd.4382

Cited by 30 publications

(23 citation statements)

References 22 publications

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“…In addition, the cost of NIPT was highly variable and several clinicians suggested that high test costs were limiting implementation and precluding equity of access [3 & ]. Several professional bodies have released guidance on NIPT [52][53][54][55][56] and research with health professionals offering NIPT in the United States shows that this test is largely being implemented according to professional guidelines [17,18,57]. However, a cause for concern was evidence that NIPT is being offered as a diagnostic test by a significant portion of providers [17,57] demonstrating that continuing health professional education and training is essential.…”

Section: Service Deliverymentioning

confidence: 99%

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Hill

Lewis²,

Chitty³

2016

Current Opinion in Obstetrics &Amp; Gynecology

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Stakeholders are positive about the introduction of cell-free fetal DNA testing into clinical practice. They describe both practical and psychological benefits arising from tests that are safe and can potentially be performed earlier in pregnancy. Key concerns, which include the potential for these tests to have a negative impact on informed decision making and increased societal pressure to have testing, can be addressed through careful parent-directed counseling. As applications for these tests expand it is increasingly important to develop innovative approaches to facilitate good understanding for parents who are offered noninvasive prenatal testing.

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Section: Service Deliverymentioning

confidence: 99%

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Hill

Lewis²,

Chitty³

2016

Current Opinion in Obstetrics &Amp; Gynecology

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“…For example, while most IC recommended confirmatory diagnostic testing for screen-positive results and some IC strongly emphasized that cfDNA screening is not diagnostic, nearly a quarter of IC never used the phrases “not diagnostic,” “screen,” or “screening test” to describe cfDNA screening. Explanations that cfDNA is not diagnostic are particularly important, given reports that many women misunderstand cfDNA screening results to be diagnostic and may even terminate without confirmatory testing (37, 48). Such misunderstandings might also be lessened by clear expectations regarding screening results, but many IC in our sample did not explain how results would be presented, to whom they would be provided, and/or that results can be incorrect.…”

Section: Discussionmentioning

confidence: 99%

“…The information parents are offered about genetic conditions should be up-to-date, accurate, and balanced—particularly because potential parents make termination decisions against a backdrop of consistent societal bias against those with disabilities (32–34). Evidence suggests that cfDNA screening could lead to increased pregnancy terminations (35, 36); indeed, nearly 15% of surveyed genetic counselors indicated they had at least one patient terminate a pregnancy in their clinic based on cfDNA screening results alone (37). Bias concerning disability, both among health care providers and in public opinion, may influence such decisions (38–41).…”

Section: Introductionmentioning

confidence: 99%

Informed decision-making about prenatal cfDNA screening: An assessment of written materials

Michie

Kraft

Minear

et al. 2016

Ethics, Medicine and Public Health

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Objectives The introduction of prenatal cfDNA screening for fetal aneuploidy and other genetic conditions has exacerbated concerns about informed decision-making in clinical prenatal testing. To assess the information provided to patients to facilitate decisions about cfDNA screening, we collected written patient education and consent documents created by laboratories and clinics. Methods Informed consent documents (IC) were coded by two independent coders. Each IC was assessed for readability, attention to elements of informed consent, and completeness of information about the test and the screened conditions. Results We found variance between IC produced by commercial laboratories versus those provided by local clinics or health care systems, and considerable variance among materials from all sources. “Commercial” IC were longer and written at a more difficult reading level than “non-commercial” IC, and were less likely to state explicitly that cfDNA only screens for certain conditions. About one-third of IC were combined with laboratory order forms. Though most IC recommended confirmatory testing for positive results, only about half clearly stated that results could be incorrect—including mentions of false positives or false negatives. About one-third of IC explicitly stated that cfDNA screening was optional. While nearly all IC from any source listed the conditions screened by the test, only about half of the IC included any phenotypic descriptions of these conditions. Few IC mentioned psychosocial considerations, and only one IC mentioned the availability of support groups for families of children with genetic conditions. Conclusions Based on our findings, we recommend that written and well-informed consent be sought before performing cfDNA screening, and we offer minimal and recommended standards for patient education and consent materials.

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“…29 This has fueled concerns that more women will be making decisions with insufficient education concerning the risks, benefits and limitations of various available options. 61, 62 Patients and clinicians are drawn to cell free DNA screening because of the greater detection for trisomy 21 compared with conventional maternal serum and ultrasound screening. 63, 64 However, implementation of cfDNA screening has been driven in part by market forces rather than a thoughtful integration into current test offerings.…”

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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NIPT: current utilization and implications for the future of prenatal genetic counseling

Abstract: Background Non-invasive prenatal testing (NIPT) for select fetal trisomies became clinically available in 2011.

Cited by 30 publications

References 22 publications

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Informed decision-making about prenatal cfDNA screening: An assessment of written materials

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

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