A single center’s experience with noninvasive prenatal testing

Beamon, Carmen; Hardisty, Emily; Harris, Sarah; Vora, Neeta L.

doi:10.1038/gim.2014.20

Cited by 32 publications

(42 citation statements)

References 31 publications

(26 reference statements)

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“…Studies are ongoing to calculate a precise risk adjustment based on fetal fraction. Because fetal fraction varies within the same pregnancy from day to day, a sample that does not return a result may resolve upon redraw, as was recently reported; without redraws test performance suffers (30, 31). Indeed, in clinical practice, roughly 98% of samples ultimately return a result after redraws are analyzed, and results are reported in less than one calendar week for over 80% of samples.…”

Section: Discussionmentioning

confidence: 81%

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

Pergament

Cuckle

Zimmermann

et al. 2014

Obstetrics &Amp; Gynecology

267

290

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Objective To estimate performance of a single-nucleotide-polymorphism–based noninvasive prenatal screen for fetal aneuploidy in high-risk and low-risk populations upon single venopuncture. Methods One thousand sixty-four maternal blood samples from 7 weeks of gestation and beyond were included; one thousand fifty-one were within specifications, 518 (49.3%) low-risk. Cell-free DNA was amplified, sequenced, and analyzed using the Next-generation Aneuploidy Test Using SNPs algorithm. Samples were called as trisomies 21, 18, 13, or monosomy X, or euploid, and male or female. Results Nine hundred sixty-six samples (91.9%) successfully generated a cell-free DNA result. Among these, sensitivity was 100% for trisomy 21 (58/58, CI: 93.8–100%), trisomy 13 (12/12, CI: 73.5–100%), and fetal sex (358/358 female, CI:99.0–100%; 418/418 male, CI: 99.1–100%), 96.0% for trisomy 18 (24/25, CI: 79.7–99.9%), and 90% for monosomy X (9/10, CI: 55.5–99.8%). Specificity for trisomies 21 and 13 was 100% (905/905 [CI: 99.6–100%] and 953/953 [CI: 99.6–100%], respectively) and for trisomy 18 and monosomy X was 99.9% (938/939 [CI: 99.4–100%] and 953/954 [CI: 99.4–100%], respectively). However, 16% (20/125) of aneuploid samples did not return a result; 50% (10/20) had a fetal fraction below the 1.5th percentile of euploid pregnancies. Aneuploidy rate was significantly higher in these samples (p<0.001, odds ratio: 9.2, CI: 4.4–19.0). Sensitivity and specificity did not differ in low-risk and high-risk populations. Conclusions This noninvasive prenatal screen performed with high sensitivity and specificity in high-risk and low-risk cohorts. Aneuploid samples were significantly more likely to not return a result; the number of aneuploidy samples was especially increased among samples with low fetal fraction. This underscores the importance of redraws or, in rare cases, invasive procedures based on low fetal fraction.

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Section: Discussionmentioning

confidence: 81%

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

Pergament

Cuckle

Zimmermann

et al. 2014

Obstetrics &Amp; Gynecology

267

290

View full text Add to dashboard Cite

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“…One of the limitations of this study was incomplete clinical outcomes. Obtaining clinical outcomes remains a challenge for all NIPT laboratories . There are several factors that may contribute to incomplete outcomes, including the absence of a clinical point person at the draw location (healthcare provider or distributor laboratory) to communicate this information back to the laboratory, patients that move or transfer care, a dependence on providers to report putative false‐negative results, and ethical concerns of providers regarding the discussion of patient information.…”

Section: Discussionmentioning

confidence: 99%

Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases

et al. 2016

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ObjectiveThe primary goal of this study was to provide clinically relevant information for appropriate patient counseling.MethodDemographics and test metrics were reviewed for 86 658 clinical cases. Outcome information was requested for samples reported as aneuploidy detected or suspected for chromosomes 21, 18, or 13; voluntary outcome reporting was encouraged for all discordant outcomes.ResultsOf 86 658 cases, 85 298 (98.4%) met inclusion criteria for result reporting. Of the 1360 (1.6%) cancellations, only 101 (0.1%) were for technical reasons. Average time to result was 3.3 business days. Aneuploidy was detected or suspected in 2142 (2.5%) samples. For aneuploidy detected cases with known clinical outcomes, the overall positive predictive value (PPV) was 83.5% (608/728); observed PPVs for trisomies 21, 18, and 13 ranged from 50.0 to 92.8%. As individual PPVs are determined by a patient's prior risk, we developed a chart for counseling patients on positive predictive value based on maternal age.ConclusionThis large‐scale report reinforces that noninvasive prenatal testing is a highly accurate screen for fetal aneuploidy in the general obstetric population. Test improvements have facilitated a reduction in failure rates, time to result, and borderline results/unclassifiable results. We have developed a positive predictive value counseling tool to ensure appropriate patient education, counseling, and clinical utilization. © 2015 Illumina. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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“…Since the 2011 introduction of cell free DNA (cfDNA) screening in the United States (US), the technology has spread rapidly through clinical practice, especially at private and academic medical centers (Beamon, Hardisty, Harris, & Vora, 2014; Taylor, Chock, & Hudgins, 2014; Tischler, Hudgins, Blumenfeld, Greely, & Ormond, 2011). Building on the discovery that cell-free placental DNA circulates in maternal serum during pregnancy (Chiu et al, 2008), cfDNA screening is a non-invasive prenatal screening test that uses advanced sequencing and bioinformatics to discern aspects of the fetal genome from placental DNA.…”

Section: Introductionmentioning

confidence: 99%

Spanish‐ and English‐Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections

Floyd

Allyse²,

Michie

2016

Journal of Genetic Counseling

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The rapid clinical implementation of cell-free DNA (cfDNA) screening, a non-invasive method of prenatal genetic screening, has outpaced research on its social and ethical implications. This study is the first to compare the ethical and practical views of Spanish- and English-speaking pregnant women in the United States about cfDNA screening. Semi-structured interviews were conducted with diverse Spanish- and English-speaking women who had received prenatal care at a large academic medical center. Of the 24 interviewees, ten were Latinas who were interviewed in Spanish; English-language interviews were conducted with seven non-Hispanic Asian and seven non-Hispanic White women. Participants held positive opinions concerning the accuracy of cfDNA screening and often noted that it would enhance preparedness. Participants also expressed concerns about the possibility of inaccurate results and the potentially negative effects of cfDNA screening on the experience of pregnancy. Differences emerged between Spanish and English speakers in their portrayals of their relationships with prenatal health care providers, the extent to which they questioned providers’ advice, their ethical concerns, and their informational needs. We emphasize the importance of customizing prenatal test counseling to the needs of the individual patient, providing educationally appropriate counseling and literature, and mitigating potential language barriers.

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A single center’s experience with noninvasive prenatal testing

Cited by 32 publications

References 31 publications

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases

Spanish‐ and English‐Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections

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