Prenatal cfDNA screening results indicative of maternal neoplasm: survey of current practice and management needs

Giles, Meagan E.; Murphy, Lauren; Krstić, Nevena; Sullivan, Cathy; Hashmi, S. Shahrukh; Stevens, Blair

doi:10.1002/pd.4973

Cited by 17 publications

(24 citation statements)

References 25 publications

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“…Thus, cfDNA screening allows the assessment of prenatal genetic conditions far beyond those of routine prenatal screening to date. Newer applications are being introduced that will expand the amount of genetic information that can be collected and learned about the pregnancy (Dharajiya et al 2017;Xi et al 2017) as well as the health of the pregnant woman (Brison et al 2017;Giles et al 2017).…”

Section: Introductionmentioning

confidence: 99%

Genetic Counselors’ Perspectives About Cell‐Free DNA: Experiences, Challenges, and Expectations for Obstetricians

Agatisa

Mercer

Coleridge

et al. 2018

Journal of Genetic Counseling

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The expansion of cell-free fetal DNA (cfDNA) screening for a larger and diverse set of genetic variants, in addition for use among the low-risk obstetric population, presents important clinical challenges for all healthcare providers involved in the delivery of prenatal care. It is unclear how to leverage the different members of the healthcare team to respond to these challenges. We conducted interviews with 25 prenatal genetic counselors to understand their experience with the continued expansion of cfDNA screening. Participants supported the use of cfDNA screening for the common autosomal aneuploidies, but noted some reservations for its use to identify fetal sex and microdeletions. Participants reported several barriers to ensuring that patients have the information and support to make informed decisions about using cfDNA to screen for these different conditions. This was seen as a dual-sided problem, and necessitated additional education interventions that addressed patients seeking cfDNA screening, and obstetricians who introduce the concepts of genetic risk and cfDNA to patients. In addition, participants noted that they have a professional responsibility to educate obstetricians about cfDNA so they can be prepared to be gatekeepers of counseling and education about this screening option for use among the general obstetric population.

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Section: Introductionmentioning

confidence: 99%

Genetic Counselors’ Perspectives About Cell‐Free DNA: Experiences, Challenges, and Expectations for Obstetricians

Agatisa

Mercer

Coleridge

et al. 2018

Journal of Genetic Counseling

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“…13 Pre-test counseling has increasingly become an important aspect of NIPT, 14 and while genetic counselors almost always discuss the possibility of false positives and false negatives, a recent survey of genetic counselors revealed that only 55% of counselors communicated the possibility that NIPT may yield unexpected or rare results. 15 Similarly, 95% of counselors surveyed were aware that NIPT results may suggest maternal cancer; however, only 77% reported that they would disclose such results. 15 Interestingly, the same 77% indicated that they would disclose the information even if it were not included on the official NIPT report.…”

Section: Expanded Non-invasive Prenatal Testing: Advantages Challementioning

confidence: 99%

“…15 Similarly, 95% of counselors surveyed were aware that NIPT results may suggest maternal cancer; however, only 77% reported that they would disclose such results. 15 Interestingly, the same 77% indicated that they would disclose the information even if it were not included on the official NIPT report. 15 The majority of genetic counselors did not feel adequately equipped or comfortable counseling patients with NIPT results indicative of maternal cancer and 91.3% of them felt the need for institutional or national guidelines to manage such patients.…”

Section: Expanded Non-invasive Prenatal Testing: Advantages Challementioning

confidence: 99%

“…15 The majority of genetic counselors did not feel adequately equipped or comfortable counseling patients with NIPT results indicative of maternal cancer and 91.3% of them felt the need for institutional or national guidelines to manage such patients. 15 During 2017, significant advances occurred in the identification of early biomarkers for ASD. In particular, several studies highlighted different aspects of early brain development that may ultimately have relevance for the field of prenatal diagnosis.…”

Section: Expanded Non-invasive Prenatal Testing: Advantages Challementioning

confidence: 99%

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In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017

et al. 2018

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“…It is important to note that low fetal fraction may be associated with an increased risk for trisomy 18, trisomy 13, monosomy X, triploidy, and possibly other aneuploidies (32,46,47). Maternal karyotype abnormalities and occult maternal malignancy can also impact testing results, including copy number changes and whole chromosomal aneuploidies (48,49). For example, it has been estimated that up to 90% of women with 47,XXX are not aware of their aneuploidy (50,51).…”

Section: Biologic Preanalytical and Analytical Considerations For Cmentioning

confidence: 99%

A Paradigm Shift: Considerations in Prenatal Cell-Free DNA Screening

Dines

Eckel

Cheng

et al. 2018

The Journal of Applied Laboratory Medicine

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Background: Testing to determine the health of a fetus has undergone multiple iterations since the widespread adoption of amniocentesis in the 1970s, including several combinations of ultrasound and/or maternal serum screening. The clinical paradigm for prenatal screening for fetal chromosome aneuploidies was transformed by the introduction of cell-free DNA (cfDNA) screening or noninvasive prenatal screening in 2011. Content: The clinical performance of cfDNA screening is well-established for the most common autosomal and sex chromosome aneuploidies with a detection rate exceeding 90% for all aneuploidies. One of the most significant advantages of cfDNA screening relative to maternal serum screening is the markedly reduced false-positive rate, which is <0.5%. The clinical implementation of cfDNA screening is discussed at length, including key biological, preanalytical, and analytical factors that affect test performance. Summary: cfDNA prenatal screening for whole chromosome aneuploidies has become routine in high-risk obstetric populations. There is tremendous interest in expanding cfDNA screening to the general obstetric population. Early studies suggest that routine application of cfDNA screening is both feasible and effective, although significant economic and quality control considerations remain. IMPACT STATEMENTThe clinical paradigm for screening for fetal chromosomal aneuploidies has been transformed by cell-free DNA (cfDNA) prenatal screening, also called noninvasive prenatal testing. This method sequences DNA from maternal plasma, which contains a mixture of short maternal DNA fragments as well as placental DNA fragments that serve as a fetal surrogate. cfDNA prenatal screening was rapidly adopted in pregnancies at increased risk for trisomy 21, 18, or 13. Due to its low false positive rate, efficacy in the general obstetric population, and ability to detect additional cytogenetic abnormalities, cfDNA prenatal screening is anticipated to become routine in all pregnancies.

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Prenatal cfDNA screening results indicative of maternal neoplasm: survey of current practice and management needs

Cited by 17 publications

References 25 publications

Genetic Counselors’ Perspectives About Cell‐Free DNA: Experiences, Challenges, and Expectations for Obstetricians

Genetic Counselors’ Perspectives About Cell‐Free DNA: Experiences, Challenges, and Expectations for Obstetricians

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017

A Paradigm Shift: Considerations in Prenatal Cell-Free DNA Screening

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