Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies

2017 ◽  
Vol 37 (10) ◽  
pp. 1017-1027 ◽  
Author(s):  
Francesca Romana Grati ◽  
Komal Bajaj ◽  
Valentina Zanatta ◽  
Francesca Malvestiti ◽  
Barbara Malvestiti ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Sex Chromosome Aneuploidies

Close but not quite: Two cases of sex chromosome aneuploidies outside the scope of cell free DNA screening

2018 ◽  
Vol 38 (8) ◽  
pp. 617-619
Author(s):  
Katelynn G. Sagaser ◽  
Blair Stevens ◽  
Jessica Davis ◽  
Hope Northrup ◽  
Aarti Ramdaney
Keyword(s):  
Sex Chromosome ◽  
Cell Free Dna ◽  
Free Dna ◽  
Sex Chromosome Aneuploidies

scholarly journals Cell-free DNA screening and sex chromosome aneuploidies

2015 ◽  
Vol 35 (10) ◽  
pp. 980-985 ◽  
Author(s):  
Michael T. Mennuti ◽  
Suchitra Chandrasekaran ◽  
Nahla Khalek ◽  
Lorraine Dugoff
Keyword(s):  
Sex Chromosome ◽  
Cell Free Dna ◽  
Free Dna ◽  
Sex Chromosome Aneuploidies

Screening for Sex Chromosome Aneuploidy by Cell-Free DNA Testing: Patient Choice and Performance

2017 ◽  
Vol 44 (2) ◽  
pp. 98-104 ◽  
Author(s):  
Elisa Bevilacqua ◽  
Elena Ordóñez ◽  
Ivan Hurtado ◽  
Laura Rueda ◽  
Eléonora Mazzone ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Patient Choice ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Sex Chromosome Aneuploidy ◽  
Free Dna ◽  
Chromosome Aneuploidy ◽  
Testing Patient ◽  
And Performance

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.

Obesity and no call results: optimal timing of cell-free DNA testing and redraw

2021 ◽  
Author(s):  
Maeve K. HOPKINS ◽  
Nathanael KOELPER ◽  
Samantha CALDWELL ◽  
Brittany DYR ◽  
Lorraine DUGOFF
Keyword(s):  
Optimal Timing ◽  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna

Circulating Cell Free DNA Testing

2015 ◽  
Vol 70 (8) ◽  
pp. 492-494 ◽  
Author(s):  
Glenn E. Palomaki ◽  
E. M. Kloza ◽  
G. M. Lambert-Messerlian ◽  
D. van den Boom ◽  
M. Ehric ◽  
...  
Keyword(s):  
Dna Testing ◽  
Cell Free Dna ◽  
Free Dna ◽  
Circulating Cell Free Dna
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