scholarly journals Cell-Free DNA Analysis for Trisomy Risk Assessment in First-Trimester Twin Pregnancies

2013 ◽  
Vol 35 (3) ◽  
pp. 204-211 ◽  
Author(s):  
M.M. Gil ◽  
Maria Soledad Quezada ◽  
Barbara Bregant ◽  
Argyro Syngelaki ◽  
Kypros H. Nicolaides
Keyword(s):  
Risk Assessment ◽  
Dna Analysis ◽  
First Trimester ◽  
Cell Free Dna ◽  
Free Dna ◽  
Twin Pregnancies

Cell-free DNA analysis for trisomy 21 in first-trimester twin pregnancies

2019 ◽  
Vol 493 ◽  
pp. S596
Author(s):  
I. Vazquez Rico ◽  
P. Carrasco Salas ◽  
C. Santos Rosa ◽  
R. Granell Escobar ◽  
M.R. Torres Aguilar ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Dna Analysis ◽  
First Trimester ◽  
Cell Free Dna ◽  
Free Dna ◽  
Twin Pregnancies

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.

scholarly journals Fetal Fraction Estimate in Twin Pregnancies Using Directed Cell-Free DNA Analysis

2013 ◽  
Vol 35 (3) ◽  
pp. 199-203 ◽  
Author(s):  
Craig A. Struble ◽  
Argyro Syngelaki ◽  
Arnold Oliphant ◽  
Ken Song ◽  
Kypros H. Nicolaides
Keyword(s):  
Dna Analysis ◽  
Cell Free Dna ◽  
Free Dna ◽  
Twin Pregnancies ◽  
Fetal Fraction

scholarly journals Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method

2012 ◽  
Vol 41 (1) ◽  
pp. 21-25 ◽  
Author(s):  
G. Ashoor ◽  
A. Syngelaki ◽  
E. Wang ◽  
C. Struble ◽  
A. Oliphant ◽  
...  
Keyword(s):  
Dna Analysis ◽  
First Trimester ◽  
Trisomy 13 ◽  
Analysis Method ◽  
Cell Free Dna ◽  
Free Dna ◽  
First Trimester Of Pregnancy

scholarly journals P01.04: Cell‐free DNA analysis in twin pregnancies after reduction because of fetal aneuploidy

2019 ◽  
Vol 54 (S1) ◽  
pp. 156-156 ◽  
Author(s):  
E. Bevilacqua ◽  
J. Jani ◽  
K. Chen ◽  
K. White ◽  
R. Stokowski ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Cell Free Dna ◽  
Fetal Aneuploidy ◽  
Free Dna ◽  
Twin Pregnancies

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 A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Robert Wallerstein ◽  
Andrea Jelks ◽  
Matthew J. Garabedian
Keyword(s):  
Risk Assessment ◽  
Genetic Counseling ◽  
Patient Education ◽  
Chorionic Villus ◽  
First Trimester ◽  
Chorionic Villus Sampling ◽  
Cell Free Dna ◽  
Free Dna ◽  
Integrated Screening ◽  
Cfdna Screening

Objective. Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management.Study Design. Beginning in January 2013, we initiated a new patient care model in which high-risk patients for aneuploidy received genetic counseling at 12 weeks of gestation. Patients were presented with four pathways for aneuploidy risk assessment and diagnosis: (1) cfDNA; (2) integrated screening; (3) direct-to-invasive testing (chorionic villus sampling or amniocentesis); or (4) no first trimester diagnostic testing/screening. Patients underwent follow-up genetic counseling and detailed ultrasound at 18–20 weeks to review first trimester testing and finalize decision for amniocentesis.Results. Counseling and second trimester detailed ultrasound were provided to 163 women. Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%). Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%,P<0.05).Conclusion. When counseled about screening options, women often chose cfDNA over integrated screening. This program is a model for patient-directed, efficient delivery of a newly available high-level technology in a public health setting. Genetic counseling is an integral part of patient education and determination of plan of care.

scholarly journals Performance of screening for aneuploidies by cell‐free DNA analysis of maternal blood in twin pregnancies

2014 ◽  
Vol 45 (1) ◽  
pp. 61-66 ◽  
Author(s):  
E. Bevilacqua ◽  
M. M. Gil ◽  
K. H. Nicolaides ◽  
E. Ordoñez ◽  
V. Cirigliano ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Maternal Blood ◽  
Cell Free Dna ◽  
Free Dna ◽  
Twin Pregnancies
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