scholarly journals Fetal fraction of cell‐free DNA in maternal plasma in the prediction of spontaneous preterm delivery

2014 ◽  
Vol 45 (1) ◽  
pp. 101-105 ◽  
Author(s):  
M. S. Quezada ◽  
C. Francisco ◽  
D. Dumitrascu‐Biris ◽  
K. H. Nicolaides ◽  
L. C. Poon
Keyword(s):  
Preterm Delivery ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Spontaneous Preterm Delivery ◽  
Free Dna ◽  
Fetal Fraction

scholarly journals Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex

2016 ◽  
Vol 62 (6) ◽  
pp. 848-855 ◽  
Author(s):  
George Koumbaris ◽  
Elena Kypri ◽  
Kyriakos Tsangaras ◽  
Achilleas Achilleos ◽  
Petros Mina ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Dna Analysis ◽  
Prenatal Testing ◽  
Cost Effective ◽  
Maternal Plasma ◽  
Trisomy 13 ◽  
Cell Free Dna ◽  
Free Dna ◽  
Genomic Regions ◽  
Fetal Fraction

Abstract BACKGROUND There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT). METHODS We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genomic regions of interest. An advanced fetal fraction estimation and aneuploidy determination algorithm was also developed. This assay allowed for accurate counting and assessment of chromosomal regions of interest. The analytical performance of the assay was evaluated in a blind study of 631 samples derived from pregnancies of at least 10 weeks of gestation that had also undergone invasive testing. RESULTS Our blind study exhibited 100% diagnostic sensitivity and specificity and correctly classified 52/52 (95% CI, 93.2%–100%) cases of trisomy 21, 16/16 (95% CI, 79.4%–100%) cases of trisomy 18, 5/5 (95% CI, 47.8%–100%) cases of trisomy 13, and 538/538 (95% CI, 99.3%–100%) normal cases. The test also correctly identified fetal sex in all cases (95% CI, 99.4%–100%). One sample failed prespecified assay quality control criteria, and 19 samples were nonreportable because of low fetal fraction. CONCLUSIONS The extent to which free fetal DNA testing can be applied as a universal screening tool for trisomy 21, 18, and 13 depends mainly on assay accuracy and cost. Cell-free DNA analysis of targeted genomic regions in maternal plasma enables accurate and cost-effective noninvasive fetal aneuploidy detection, which is critical for widespread adoption of NIPT.

scholarly journals Measurement of fetal fraction in cell-free DNA from maternal plasma using a panel of insertion/deletion polymorphisms

PLoS ONE ◽  
2017 ◽  
Vol 12 (10) ◽  
pp. e0186771 ◽  
Author(s):  
Angela N. Barrett ◽  
Li Xiong ◽  
Tuan Z. Tan ◽  
Henna V. Advani ◽  
Rui Hua ◽  
...  
Keyword(s):  
Maternal Plasma ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fetal Fraction

High levels of fetal cell-free DNA in maternal serum: A risk factor for spontaneous preterm delivery

2005 ◽  
Vol 193 (2) ◽  
pp. 421-425 ◽  
Author(s):  
Antonio Farina ◽  
Erik S. LeShane ◽  
Roberto Romero ◽  
Ricardo Gomez ◽  
Tinnakorn Chaiworapongsa ◽  
...  
Keyword(s):  
Risk Factor ◽  
Preterm Delivery ◽  
Maternal Serum ◽  
Fetal Cell ◽  
Cell Free Dna ◽  
Spontaneous Preterm Delivery ◽  
Free Dna

scholarly journals Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup

2020 ◽  
Vol 35 (5) ◽  
pp. 1222-1229 ◽  
Author(s):  
Yuval Yaron ◽  
Montse Pauta ◽  
Celia Badenas ◽  
Anna Soler ◽  
Virginia Borobio ◽  
...  
Keyword(s):  
Cytogenetic Analysis ◽  
Pregnancy Loss ◽  
Recurrent Pregnancy Loss ◽  
Maternal Plasma ◽  
Chromosomal Anomalies ◽  
Cell Free Dna ◽  
Free Dna ◽  
Genome Wide ◽  
Competing Interest ◽  
Fetal Fraction

Abstract STUDY QUESTION Can maternal plasma cell-free DNA (cfDNA) detect chromosomal anomalies in early pregnancy loss (EPL) and recurrent pregnancy loss (RPL)? SUMMARY ANSWER Genome-wide cfDNA testing can serve as an alternative to cytogenetic analysis in products of conception (POCs) in RPLs and can guide further management. WHAT IS KNOWN ALREADY Random chromosomal anomalies are the single most common cause for EPL and RPL. Cytogenetic analysis in POCs may be used to direct management in RPL because the detection of random chromosomal anomalies can eliminate further unwarranted testing. STUDY DESIGN, SIZE, DURATION This was a prospective diagnostic test study from March 2018 to January 2019 of 109 patients experiencing pregnancy loss before 14 weeks gestation at a tertiary-care academic medical center. PARTICIPANTS/MATERIALS, SETTING, METHODS Blood samples were drawn for genome-wide cfDNA testing prior to chorionic villous sampling for cytogenetic analysis of POCs with both short-term cultures (STCs) and long-term cultures (LTCs). Final analysis included 86 patients with non-mosaic cytogenetic results in POCs and available cfDNA results. Aneuploidy detection rates by cfDNA testing and POC cytogenetic analysis were compared. The first 50 samples served as the Training Set to establish pregnancy loss-specific log-likelihood ratio (LLR) thresholds using receiver-operator characteristic (ROC)-like analyses. These were then used for the entire cohort. MAIN RESULTS AND THE ROLE OF CHANCE Seventy-eight samples (71.5%) had results available from both STC and LTC; 12 samples (11%) had a result from STC only, and 7 samples (6.4%) had a result from LTC only. A chromosomal anomaly was detected in 55/86 (64%). The rates of chromosomal anomalies were 61, 72, 73 and 44% in patients undergoing their first, second, third and ≥4th pregnancy losses, respectively. The median cfDNA fetal fraction was 5%. With standard LLR thresholds used for noninvasive prenatal screening, the sensitivity of cfDNA in detecting aneuploidy was 55% (30/55) and with a specificity of 100% (31/31). Using pregnancy loss-specific LLR thresholds, the sensitivity of cfDNA in detecting aneuploidy was 82% (45/55), with a specificity of 90% (28/31). The positive and negative likelihood ratios were 8.46 and 0.20, respectively. Fetal sex was correctly assigned in all cases. LIMITATIONS, REASONS FOR CAUTION Cases with a false-positive result by cfDNA analysis would not receive the indicated RPL workup. Specificity could be improved by using a fetal fraction (FF) cutoff of 4%, but this would result in exclusion of more than a quarter of cases. WIDER IMPLICATIONS OF THE FINDINGS cfDNA-based testing can serve as an alternative to POC cytogenetic analysis and can guide further RPL management: if cfDNA demonstrates aneuploidy, no further action is taken and if no abnormality is detected, the recommended RPL workup is performed. STUDY FUNDING/COMPETING INTEREST(S) Cell-free DNA testing was funded by Illumina, Inc., San Diego, CA. Y.Y. is a member of Illumina’s Clinical Expert Panel and has received travel grants. A.B. has received travel grants from Illumina. All authors have no competing interest to declare.

Fetal Fraction in Maternal Plasma Cell-Free DNA at 11–13 Weeks’ Gestation: Effect of Maternal and Fetal Factors

2012 ◽  
Vol 31 (4) ◽  
pp. 237-243 ◽  
Author(s):  
Ghalia Ashoor ◽  
Leona Poon ◽  
Argyro Syngelaki ◽  
Beatrice Mosimann ◽  
Kypros H. Nicolaides
Keyword(s):  
Plasma Cell ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fetal Fraction

scholarly journals The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy

2012 ◽  
Vol 26 (2) ◽  
pp. 143-145 ◽  
Author(s):  
Herb Brar ◽  
Eric Wang ◽  
Craig Struble ◽  
Thomas J. Musci ◽  
Mary E. Norton
Keyword(s):  
A Priori ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fetal Fraction

Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics

2012 ◽  
Vol 41 (1) ◽  
pp. 26-32 ◽  
Author(s):  
G. Ashoor ◽  
A. Syngelaki ◽  
L. C. Y. Poon ◽  
J. C. Rezende ◽  
K. H. Nicolaides
Keyword(s):  
Plasma Cell ◽  
Maternal Plasma ◽  
Cell Free Dna ◽  
Free Dna ◽  
Fetal Fraction
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