National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell-free DNA aneuploidy screening

2015 ◽  
Vol 55 (5) ◽  
pp. 507-510 ◽  
Author(s):  
Stephen J. Robson ◽  
Lisa Hui
Keyword(s):  
Diagnostic Procedures ◽  
First Trimester ◽  
Aneuploidy Screening ◽  
Cell Free Dna ◽  
Dna Aneuploidy ◽  
Free Dna ◽  
Prenatal Diagnostic ◽  
National Decline

scholarly journals 901: High fetal fraction on first trimester cell free DNA aneuploidy screening and adverse perinatal outcomes.

2019 ◽  
Vol 220 (1) ◽  
pp. S583
Author(s):  
Lydia L. Shook ◽  
Mark A. Clapp ◽  
Penelope A. Roberts ◽  
Sarah N. Bernstein ◽  
Ilona T. Goldfarb
Keyword(s):  
Perinatal Outcomes ◽  
First Trimester ◽  
Aneuploidy Screening ◽  
Cell Free Dna ◽  
Dna Aneuploidy ◽  
Free Dna ◽  
Adverse Perinatal Outcomes ◽  
Fetal Fraction

scholarly journals Non-invasive first-trimester aneuploidy screening using cell-free DNA in a fertility practice: acceptability and outcomes

2016 ◽  
Vol 106 (3) ◽  
pp. e20
Author(s):  
K.R. Hammond ◽  
N.A. Cataldo ◽  
B.A. Malizia ◽  
J.A. Hubbard ◽  
M.P. Steinkampf
Keyword(s):  
First Trimester ◽  
Aneuploidy Screening ◽  
Cell Free Dna ◽  
Non Invasive ◽  
Free Dna

scholarly journals Advanced ovarian cancer treated in pregnancy and detected by cell-free DNA aneuploidy screening

2018 ◽  
Vol 24 ◽  
pp. 48-50
Author(s):  
Christina N. Cordeiro Mitchell ◽  
Tricia Murdock ◽  
Amanda N. Fader ◽  
Rebecca L. Stone
Keyword(s):  
Ovarian Cancer ◽  
Advanced Ovarian Cancer ◽  
Aneuploidy Screening ◽  
Cell Free Dna ◽  
Dna Aneuploidy ◽  
Free Dna ◽  
In Pregnancy

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
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