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

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 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.

22 Fetal down syndrome is associated with increased cell-free fetal DNA levels in archived maternal serum samples

2001 ◽  
Vol 185 (6) ◽  
pp. S79 ◽  
Author(s):  
Thomas Lee ◽  
Erik Leshane ◽  
Geralyn Messerlian ◽  
Jacob Canick ◽  
Marshall Carpenter ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Maternal Serum ◽  
Serum Samples ◽  
Fetal Dna ◽  
Cell Free Fetal Dna

scholarly journals Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening

2017 ◽  
Vol 67 (660) ◽  
pp. 298-299 ◽  
Author(s):  
Imran Rafi ◽  
Melissa Hill ◽  
Judith Hayward ◽  
Lyn S Chitty
Keyword(s):  
Down Syndrome ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Down Syndrome Screening

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.

Hypermethylated ERG as a cell-free fetal DNA biomarker for non-invasive prenatal testing of Down syndrome

2015 ◽  
Vol 444 ◽  
pp. 289-292 ◽  
Author(s):  
Xi Chen ◽  
Likuan Xiong ◽  
Ting Zeng ◽  
Kelin Xiao ◽  
Yanping Huang ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
A Cell

scholarly journals Evaluation of Cell-free Fetal DNA as a Second-Trimester Maternal Serum Marker of Down Syndrome Pregnancy

2003 ◽  
Vol 49 (2) ◽  
pp. 239-242 ◽  
Author(s):  
Antonio Farina ◽  
Erik S LeShane ◽  
Geralyn M Lambert-Messerlian ◽  
Jacob A Canick ◽  
Thomas Lee ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Detection Rate ◽  
False Positive Rate ◽  
Maternal Serum ◽  
Second Trimester ◽  
Fetal Dna ◽  
Screening Performance ◽  
Cell Free Fetal Dna ◽  
Positive Rate ◽  
Screening Marker

Abstract Background: Second-trimester cell-free fetal DNA (studied only in pregnancies with male fetuses) is higher in maternal serum samples from women carrying Down syndrome fetuses than in unaffected pregnancies. In this study we evaluated the potential performance of fetal DNA as a screening marker for Down syndrome. Methods: Data on maternal serum fetal DNA concentrations and the corresponding concentrations of the quadruple serum markers were available from 15 Down syndrome cases, each matched for gestational age and length of freezer storage, with 5 control samples. Analyte values were expressed as multiple(s) of the control or population median. Screening performance of fetal DNA, both alone and when added to estimates of quadruple marker performance, was determined after modeling using univariate and multivariate gaussian distribution analysis. Results: The median fetal DNA concentration in Down syndrome cases was 1.7 times higher than in controls. In univariate analysis, fetal DNA gave a 21% detection rate at a 5% false-positive rate. When added to quadruple marker screening, fetal DNA increased the estimated detection rate from 81% to 86% at a 5% false-positive rate. Conclusions: Cell-free fetal DNA, measured in maternal serum, can modestly increase screening performance above what is currently available in the second trimester. If and when maternal serum fetal DNA can be measured in pregnancies with both male and female fetuses, the utility and cost-effectiveness of adding it as a Down syndrome screening marker should be assessed.

Diagnostic Value of Non-Invasive Prenatal Screening of β-thalassemia by Cell Free Fetal DNA and Fetal NRBC

2019 ◽  
Vol 19 (2) ◽  
pp. 105-111
Author(s):  
Nadia Shafei ◽  
Mohammad Saeed Hakhamaneshi ◽  
Massoud Houshmand ◽  
Siavash Gerayeshnejad ◽  
Fardin Fathi ◽  
...  
Keyword(s):  
Sensitivity And Specificity ◽  
Multiple Displacement Amplification ◽  
Diagnostic Value ◽  
Diagnostic Methods ◽  
Beta Thalassemia ◽  
Non Invasive ◽  
Fetal Dna ◽  
Prenatal Diagnostic ◽  
Cell Free Fetal Dna ◽  
Invasive Techniques

Background: Beta thalassemia is a common disorder with autosomal recessive inheritance. The most prenatal diagnostic methods are the invasive techniques that have the risk of miscarriage. Now the non-invasive methods will be gradually alternative for these invasive techniques. Objective: The aim of this study is to evaluate and compare the diagnostic value of two non-invasive diagnostic methods for fetal thalassemia using cell free fetal DNA (cff-DNA) and nucleated RBC (NRBC) in one sampling community. Methods: 10 ml of blood was taken in two k3EDTA tube from 32 pregnant women (mean of gestational age = 11 weeks), who themselves and their husbands had minor thalassemia. One tube was used to enrich NRBC and other was used for cff-DNA extraction. NRBCs were isolated by MACS method and immunohistochemistry; the genome of stained cells was amplified by multiple displacement amplification (MDA) procedure. These products were used as template in b-globin segments PCR. cff-DNA was extracted by THP method and 300 bp areas were recovered from the agarose gel as fetus DNA. These DNA were used as template in touch down PCR to amplify b-globin gen. The amplified b-globin segments were sequenced and the results compared with CVS resul. Results: The data showed that sensitivity and specificity of thalassemia diagnosis by NRBC were 100% and 92% respectively and sensitivity and specificity of thalassemia diagnosis by cff-DNA were 100% and 84% respectively. Conclusion: These methods with high sensitivity can be used as screening test but due to their lower specificity than CVS, they cannot be used as diagnostic test.

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