The price of performance: a cost and performance analysis of the implementation of cell-free fetal DNA testing for Down syndrome in Ontario, Canada

2014 ◽  
Vol 34 (4) ◽  
pp. 350-356 ◽  
Author(s):  
N. Okun ◽  
M. Teitelbaum ◽  
T. Huang ◽  
C. S. Dewa ◽  
J. S. Hoch
Keyword(s):  
Down Syndrome ◽  
Performance Analysis ◽  
Dna Testing ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
And Performance

scholarly journals Non-invasive prenatal cell-free fetal DNA testing for down syndrome and other chromosomal abnormalities

2015 ◽  
Vol 84 (11) ◽  
Author(s):  
Darija Strah ◽  
Petra Ovniček ◽  
Janez Bernik
Keyword(s):  
Down Syndrome ◽  
Confidence Interval ◽  
Screening Test ◽  
Chromosomal Abnormalities ◽  
Fetal Loss ◽  
Dna Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Triple X Syndrome ◽  
Cell Free Fetal Dna

Background: Chorionic villus sampling and amniocentesis as definitive diagnostic procedures represent a gold standard for prenatal diagnosis of chromosomal abnormalities. The methods are invasive and lead to a miscarriage and fetal loss in approximately 0.5–1 %. Non-invasive prenatal DNA testing (NIPT) is based on the analysis of cell-free fetal DNA from maternal blood. It represents a highly accurate screening test for detecting the most common fetal chromosomal abnormalities. In our study we present the results of NIPT testing in the Diagnostic Center Strah, Slovenia, over the last 3 years.Methods: In our study, 123 pregnant women from 11th to 18th week of pregnancy were included. All of them had First trimester assessment of risk for trisomy 21, done before NIPT testing.Results: 5 of total 6 high-risk NIPT cases (including 3 cases of Down syndrome and 2 cases of Klinefelter’s syndrome) were confirmed by fetal karyotyping. One case–Edwards syndrome was false positive. Patau syndrome, triple X syndrome or Turner syndrome were not observed in any of the cases. Furthermore, there were no false negative cases reported. In general, NIPT testing had 100 % sensitivity (95 % confidence interval: 46.29 %–100.00 %) and 98.95 % specificity (95 % confidence interval: 93.44 %–99.95 %). In determining Down syndrome alone, specificity (95 % confidence interval: 95.25 %- 100.00 %) and sensitivity (95 % confidence interval: 31.00 %–100.00 %) turned out to be 100 %. In 2015, the average turnaround time for analysis was 8.3 days from the day when the sample was taken. Repeated blood sampling was required in 2 cases (redraw rate = 1.6 %).Conclusions: Our results confirm that NIPT represents a fast, safe and highly accurate advanced screening test for most common chromosomal abnormalities. In current clinical practice, NIPT would significantly decrease the number of unnecessary invasive procedures and the rate of fetal loss caused by invasive diagnostics.

Down syndrome and cell-free fetal DNA in archived maternal serum

2002 ◽  
Vol 187 (5) ◽  
pp. 1217-1221 ◽  
Author(s):  
Thomas Lee ◽  
Erik S. LeShane ◽  
Geralyn M. Messerlian ◽  
Jacob A. Canick ◽  
Antonio Farina ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Cell-free fetal DNA testing in singleton IVF conceptions

2018 ◽  
Vol 33 (4) ◽  
pp. 572-578 ◽  
Author(s):  
Timothy J Lee ◽  
Daniel L Rolnik ◽  
Melody A Menezes ◽  
Andrew C McLennan ◽  
Fabricio da Silva Costa
Keyword(s):  
Dna Testing ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation

2011 ◽  
Vol 31 (11) ◽  
pp. 1070-1076 ◽  
Author(s):  
Lauren C. Sayres ◽  
Megan Allyse ◽  
Mary E. Norton ◽  
Mildred K. Cho
Keyword(s):  
Pilot Study ◽  
Healthcare Provider ◽  
Dna Testing ◽  
Clinical Implementation ◽  
Provider Attitudes ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

Refined fluorescent STR quantification of cell-free fetal DNA during pregnancy in physiological and Down syndrome fetuses

2008 ◽  
Vol 28 (5) ◽  
pp. 425-433 ◽  
Author(s):  
Radek Vodicka ◽  
Radek Vrtel ◽  
Ladislav Dusek ◽  
Martin Prochazka ◽  
Eva Schneiderova ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Cell-free fetal DNA testing: who is driving implementation?

2012 ◽  
Vol 15 (6) ◽  
pp. 433-434 ◽  
Author(s):  
Jessica Mozersky ◽  
Michael T. Mennuti
Keyword(s):  
Dna Testing ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

2020 ◽  
Vol 9 (12) ◽  
pp. 3995
Author(s):  
Angelika Buczyńska ◽  
Iwona Sidorkiewicz ◽  
Sławomir Ławicki ◽  
Adam Krętowski ◽  
Monika Zbucka-Krętowska
Keyword(s):  
Down Syndrome ◽  
Apolipoprotein E ◽  
High Sensitivity ◽  
Control Group ◽  
Study Group ◽  
Diagnostic Efficiency ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Noninvasive Biomarker ◽  
Medical University

Prenatal screening for Down syndrome (DS) is based on both noninvasive and invasive methods. Noninvasive, cell-free fetal DNA genetic tests are expensive, whereas biochemical methods remain imprecise. Amniocentesis is the most frequently used invasive diagnosis procedure, characterized by 99.8% diagnostic efficiency and less than 1% risk of miscarriage. The aim of this study was to evaluate the screening value of apolipoprotein E (ApoE) as a potential noninvasive biomarker for prenatal DS assessment. This study was conducted on a group of female patients who decided to undergo routine amniocentesis between the 15th and 18th week of pregnancy at the Department of Reproduction and Gynecological Endocrinology of the Medical University of Bialystok, Poland. For the purpose of this study, 20 women with DS fetuses were selected as the study group, and 20 healthy pregnant women with euploid fetus karyotypes as the control group. The plasma levels of ApoE were significantly higher in the study group compared to healthy subjects (p < 0.05). The area under the receiver operating characteristic (ROC) curve was 0.978 (p < 0.001), with the cut-off set to 1.37 mg/mL, which was characterized by 80% of sensitivity and 100% of specificity. The high sensitivity and specificity demonstrate the screening utility of maternal ApoE concentration in prenatal fetal DS screening.

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