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      Patient-Centered Obstetric Care in the Age of Cell-Free Fetal DNA Prenatal Screening

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          Abstract

          Purpose:

          The clinical introduction of innovative prenatal genetic technologies challenges patients and providers to find new ways of fostering informed decision-making in a setting characterized by complexity and uncertainty. As prenatal genetic technology advances, important questions remain about how to structure patient-centered conversations that effectively prepare pregnant patients to make informed choices about the different genetic conditions for which this new form screening may be used.

          Methods:

          Focus groups were conducted with 23 pregnant women to identify informational needs and decision-making preferences regarding emerging and anticipated applications of cell-free fetal DNA screening, the newest form of prenatal genetic screening.

          Results:

          Participants were in favor of obtaining more genetic information about the fetus than provided by conventional screens but acknowledged the challenges inherent in navigating the unique complexities of the decision-making process. The provider–patient relationship was seen as an important resource to navigate the associated uncertainties at each stage of the screening process. Participants emphasized the need for initiatives to support a personalized, accurate, and unbiased discussion about prenatal genetic risk and assessment.

          Conclusion:

          Continued advances in prenatal genetic screening call for new approaches to structure patient-centered communication to facilitate increasingly complex decisions about fetal genetic risk and assessment.

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          Most cited references24

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          Memoing in qualitative research: Probing data and processes

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            DNA sequencing versus standard prenatal aneuploidy screening.

            In high-risk pregnant women, noninvasive prenatal testing with the use of massively parallel sequencing of maternal plasma cell-free DNA (cfDNA testing) accurately detects fetal autosomal aneuploidy. Its performance in low-risk women is unclear. At 21 centers in the United States, we collected blood samples from women with singleton pregnancies who were undergoing standard aneuploidy screening (serum biochemical assays with or without nuchal translucency measurement). We performed massively parallel sequencing in a blinded fashion to determine the chromosome dosage for each sample. The primary end point was a comparison of the false positive rates of detection of fetal trisomies 21 and 18 with the use of standard screening and cfDNA testing. Birth outcomes or karyotypes were the reference standard. The primary series included 1914 women (mean age, 29.6 years) with an eligible sample, a singleton fetus without aneuploidy, results from cfDNA testing, and a risk classification based on standard screening. For trisomies 21 and 18, the false positive rates with cfDNA testing were significantly lower than those with standard screening (0.3% vs. 3.6% for trisomy 21, P<0.001; and 0.2% vs. 0.6% for trisomy 18, P=0.03). The use of cfDNA testing detected all cases of aneuploidy (5 for trisomy 21, 2 for trisomy 18, and 1 for trisomy 13; negative predictive value, 100% [95% confidence interval, 99.8 to 100]). The positive predictive values for cfDNA testing versus standard screening were 45.5% versus 4.2% for trisomy 21 and 40.0% versus 8.3% for trisomy 18. In a general obstetrical population, prenatal testing with the use of cfDNA had significantly lower false positive rates and higher positive predictive values for detection of trisomies 21 and 18 than standard screening. (Funded by Illumina; ClinicalTrials.gov number, NCT01663350.).
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              Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18.

              We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). A multicenter cohort study was performed whereby cell-free DNA from maternal plasma was analyzed. Chromosome-selective sequencing on chromosomes 21 and 18 was performed with reporting of an aneuploidy risk (High Risk or Low Risk) for each subject. Of the 81 T21 cases, all were classified as High Risk for T21 and there was 1 false-positive result among the 2888 normal cases, for a sensitivity of 100% (95% confidence interval [CI], 95.5-100%) and a false-positive rate of 0.03% (95% CI, 0.002-0.20%). Of the 38 T18 cases, 37 were classified as High Risk and there were 2 false-positive results among the 2888 normal cases, for a sensitivity of 97.4% (95% CI, 86.5-99.9%) and a false-positive rate of 0.07% (95% CI, 0.02-0.25%). Chromosome-selective sequencing of cell-free DNA and application of an individualized risk algorithm is effective in the detection of fetal T21 and T18. Copyright © 2012 Mosby, Inc. All rights reserved.
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                Author and article information

                Journal
                J Patient Exp
                JPX
                spjpx
                Journal of Patient Experience
                SAGE Publications (Sage CA: Los Angeles, CA )
                2374-3735
                2374-3743
                30 August 2017
                March 2018
                : 5
                : 1
                : 26-33
                Affiliations
                [1 ]Department of Bioethics, Cleveland Clinic, Cleveland, OH, USA
                [2 ]Obstetrics, Gynecology and Women's Health Institute, Cleveland, OH, USA
                [3 ]Office of Patient Experience, Cleveland Clinic Center for Personalized Genetic Healthcare, Cleveland, OH, USA
                [4 ]Genomic Medicine Institute, Obstetrics, Gynecology and Women's Health Institute, Cleveland, OH, USA
                Author notes
                [*]Ruth M Farrell, OB/GYN and Women's Health Institute, 9500 Euclid Ave, A81, Cleveland, OH 44195, USA. Email: farrelr@ 123456ccf.org
                Article
                10.1177_2374373517720482
                10.1177/2374373517720482
                5862378
                29582008
                7cf334a4-8235-4025-911c-c8bddd1b6016
                © The Author(s) 2017

                This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License ( http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages ( https://us.sagepub.com/en-us/nam/open-access-at-sage).

                History
                Funding
                Funded by: National Human Genome Research Institute, FundRef https://doi.org/10.13039/100000051;
                Award ID: NIH/NHGRI - R21HG008511.
                Categories
                Research Articles

                patient experience,obstetric care,cell-free fetal dna screening,informed decision-making,patient–provider communication

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