scholarly journals Re: Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester combined test

2016 ◽  
Vol 47 (6) ◽  
pp. 788-789
Author(s):  
A. Perales-Marín ◽  
J. Morales-Roselló ◽  
R. Quiroga
Keyword(s):  
First Trimester ◽  
Routine Screening ◽  
Clinical Implementation ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
Combined Test ◽  
The Uk

Screening for trisomies 21 and 18 in a Spanish public hospital: from the combined test to the cell-free DNA test

2016 ◽  
Vol 30 (20) ◽  
pp. 2476-2482 ◽  
Author(s):  
M. M. Gil ◽  
M. Brik ◽  
C. Casanova ◽  
R. Martin-Alonso ◽  
M. Verdejo ◽  
...  
Keyword(s):  
Public Hospital ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
Combined Test

First‐trimester accuracy of cell‐free DNA test for trisomy 21 screening in twin pregnancies

2020 ◽  
Author(s):  
E. Gottardi ◽  
J.‐M. Costa ◽  
P. Kleinfinger ◽  
L. Lohmann ◽  
J. Carrara ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
First Trimester ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
Twin Pregnancies

scholarly journals Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies

2020 ◽  
Vol 40 (11) ◽  
pp. 1474-1481
Author(s):  
Nicola Persico ◽  
Simona Boito ◽  
Paolo Volpe ◽  
Benedetta Ischia ◽  
Mattia Gentile ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Low Risk ◽  
Cell Free Dna ◽  
Dna Test ◽  
Free Dna ◽  
First Trimester Ultrasound

scholarly journals Cell-free DNA Testing in Routine Practice: Characterisation of a Cohort with Positive Results for Trisomies, Sex Chromosome Anomalies and Microdeletions

2020 ◽  
Author(s):  
Ismail Tekesin
Keyword(s):  
Sex Chromosome ◽  
Screening Method ◽  
First Trimester ◽  
Routine Practice ◽  
Cell Free Dna ◽  
Patient Counselling ◽  
Chromosome Anomalies ◽  
Free Dna ◽  
Autosomal Aneuploidy ◽  
Current Guidelines

Abstract Introduction Cell-free DNA (cfDNA) testing is increasingly used as a screening method not only for trisomy (T) 21 but also for T18 and T13, sex chromosome anomalies (SCA) and microdeletions. Based on cases with a positive cfDNA result in our specialised prenatal practice, this study aims to characterise the usage of cfDNA testing and to estimate the positive predictive value (PPV) in routine practice in Germany. Patients and Methods In this retrospective study we analysed the data of all pregnant women with a positive cfDNA result seen between 09/2013 and 12/2019. Women were either referred due to the positive result or the test was initiated in our practice. The primary parameter of interest was the concordance of cfDNA tests with confirmatory genetic testing. Results We encountered 81 cases with a positive cfDNA test (T21: 49.4%; T18: 9.9%; T13: 8.6%; SCA: 22.2%; 22q12del: 8.6%). The PPV was 95.0% for T21, but considerably lower for T18 (55.6%) and T13 (28.6%). For SCAs it was 23.1% and no case with DiGeorge syndrome was confirmed. 63% of the patients had not received a fetal anomaly scan before cfDNA testing. In first-trimester fetuses with a cfDNA test predicting an autosomal aneuploidy, fetal anomalies were detected in 90.3% of the cases. No false positive case had an abnormal US result. Conclusions Despite the excellent specificity of cfDNA tests, the PPV for aneuploidies other than T21 is low in routine practice. In discordance with the current guidelines, cfDNA test is often used without a previous detailed anomaly scan. Our data provide valuable information to assist patient counselling and shared decision making.

First-Trimester Contingent Screening for Trisomy 21 by Fetal Nuchal Translucency and Maternal Serum Biomarkers and Maternal Blood Cell-Free DNA Testing

2018 ◽  
Vol 5 (3) ◽  
pp. 139-143
Author(s):  
Sarang Younesi ◽  
Shahram Savad ◽  
Soudeh Ghafouri-Fard ◽  
Mohammad Mahdi Taheri-Amin ◽  
Pourandokht Saadati ◽  
...  
Keyword(s):  
Blood Cell ◽  
Trisomy 21 ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Maternal Blood ◽  
Maternal Serum ◽  
Serum Biomarkers ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

Investigating Pregnancy Outcomes After Abnormal Cell-Free DNA Test Results

2018 ◽  
Vol 27 (4) ◽  
pp. 902-908 ◽  
Author(s):  
Jessica Lu ◽  
Devereux N. Saller ◽  
Luanne M. Fraer ◽  
Beatrice A. Chen
Keyword(s):  
Pregnancy Outcomes ◽  
Test Results ◽  
Cell Free Dna ◽  
Dna Test ◽  
Abnormal Cell ◽  
Free Dna

Cell-Free DNA Screening for Fetal Aneuploidy

2021 ◽  
pp. 115-120
Author(s):  
Ashley N. Battarbee ◽  
Neeta L. Vora
Keyword(s):  
Trisomy 21 ◽  
Dna Analysis ◽  
Chromosomal Abnormalities ◽  
Area Under The Curve ◽  
First Trimester ◽  
Outcome Data ◽  
Cell Free Dna ◽  
High Risk Women ◽  
Free Dna ◽  
Trimester Screening

In a prospective, multicenter blinded study at 35 international centers, the Noninvasive Examination of Trisomy (NEXT) study evaluated the performance of cell-free DNA screening for fetal trisomy compared to standard first trimester screening with nuchal translucency and serum analytes in a routine prenatal population. Among the 15,841 women who had standard screening and cell-free DNA analysis with neonatal outcome data, there were 68 chromosomal abnormalities (1 in 236). Of these, 38 were Trisomy 21 (1 in 417). Cell-free DNA analysis had a higher area under the curve (AUC) for trisomy 21, compared to standard screening (0.999 vs. 0.958, p = 0.001). Cell-free DNA analysis also had greater sensitivity, specificity, and positive predictive value compared to standard screening for trisomy 21, 18, and 13. While cell-free DNA analysis cannot detect all chromosome abnormalities, it performed better than standard screening for detection of trisomies 21, 18, and 13 in a routine population including low- and high-risk women.

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