scholarly journals Cell‐free DNA fetal fraction in twin gestations in single‐nucleotide polymorphism‐based noninvasive prenatal screening

2019 ◽  
Vol 40 (2) ◽  
pp. 179-184 ◽  
Author(s):  
Herman Hedriana ◽  
Kimberly Martin ◽  
Daniel Saltzman ◽  
Paul Billings ◽  
Zachary Demko ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Screening ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cell Free Dna ◽  
Noninvasive Prenatal Screening ◽  
Free Dna ◽  
Fetal Fraction

Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models

2018 ◽  
Vol 25 (9) ◽  
pp. 1040-1049 ◽  
Author(s):  
Nicholas B. Larson ◽  
Chen Wang ◽  
Jie Na ◽  
Ross A. Rowsey ◽  
William Edward Highsmith ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Hierarchical Models ◽  
Bayesian Hierarchical Models ◽  
Maternal Plasma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cell Free Dna ◽  
Bayesian Hierarchical ◽  
Free Dna ◽  
Fetal Fraction

scholarly journals Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods

2017 ◽  
Vol 37 (5) ◽  
pp. 482-490 ◽  
Author(s):  
Carlo G. Artieri ◽  
Carrie Haverty ◽  
Eric A. Evans ◽  
James D. Goldberg ◽  
Imran S. Haque ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Prenatal Screening ◽  
Whole Genome ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Screening ◽  
Fetal Fraction

scholarly journals Noninvasive Prenatal Screening at Low Fetal Fraction: Comparing Whole-Genome Sequencing and Single-Nucleotide Polymorphism Methods

2016 ◽  
Author(s):  
Carlo G. Artieri ◽  
Carrie Haverty ◽  
Eric A. Evans ◽  
James D. Goldberg ◽  
Imran S. Haque ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Prenatal Screening ◽  
Published Data ◽  
Whole Genome ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Screening ◽  
Fetal Fraction

AbstractObjectivePerformance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails samples below a predetermined fetal fraction threshold, whereas some laboratories employing the whole-genome sequencing (WGS) method report aneuploidy calls for all samples. Here, the performance of the two methods was compared to determine which approach actually detects more fetal aneuploidies.MethodsComputational models were parameterized with up-to-date published data and used to compare the performance of the two methods at calling common fetal trisomies (T21, T18, T13) at low fetal fractions. Furthermore, clinical experience data were reviewed to determine aneuploidy detection rates based on compliance with recent invasive screening recommendations.ResultsThe SNP method’s performance is dependent on the origin of the trisomy, and is lowest for the most common trisomies (maternal M1 nondisjunction). Consequently, the SNP method cannot maintain acceptable performance at fetal fractions below ~3%. In contrast, the WGS method maintains high specificity independent of fetal fraction and has >80% sensitivity for trisomies in low fetal fraction samples.ConclusionThe WGS method will detect more aneuploidies below the fetal fraction threshold at which many labs issue a no-call result, avoiding unnecessary invasive procedures.

Noninvasive Cell-Free DNA-Based Prenatal Detection of Microdeletions Using Single Nucleotide Polymorphism–Targeted Sequencing

2014 ◽  
Vol 123 ◽  
pp. 167S
Author(s):  
Matthew Rabinowitz ◽  
Melissa Savage ◽  
Barbara Pettersen ◽  
Styrmir Sigurjonsson ◽  
Matthew Hill ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Targeted Sequencing ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cell Free Dna ◽  
Prenatal Detection ◽  
Free Dna

scholarly journals Analytical Validation of a Single-nucleotide Polymorphism-based Donor-derived Cell-free DNA Assay for Detecting Rejection in Kidney Transplant Patients

2019 ◽  
Vol 103 (12) ◽  
pp. 2657-2665 ◽  
Author(s):  
Yücel Altuğ ◽  
Nathan Liang ◽  
Rosalyn Ram ◽  
Harini Ravi ◽  
Ebad Ahmed ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Kidney Transplant ◽  
Nucleotide Polymorphism ◽  
Analytical Validation ◽  
Single Nucleotide ◽  
Cell Free Dna ◽  
Dna Assay ◽  
Transplant Patients ◽  
Free Dna ◽  
Kidney Transplant Patients

scholarly journals Single-Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in a High-Risk and Low-Risk Cohort

2014 ◽  
Vol 124 (2, PART 1) ◽  
pp. 210-218 ◽  
Author(s):  
Eugene Pergament ◽  
Howard Cuckle ◽  
Bernhard Zimmermann ◽  
Milena Banjevic ◽  
Styrmir Sigurjonsson ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
High Risk ◽  
Prenatal Screening ◽  
Low Risk ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Screening

scholarly journals False Low-Risk Single Nucleotide Polymorphism–Based Noninvasive Prenatal Screening in Pentasomy 49,XXXXY

2018 ◽  
Vol 08 (01) ◽  
pp. e4-e6 ◽  
Author(s):  
Manesha Putra ◽  
Melissa Hicks ◽  
Jacques Abramowicz
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Prenatal Screening ◽  
Sex Chromosome ◽  
Low Risk ◽  
Chromosome Anomaly ◽  
Fetal Anomalies ◽  
Nucleotide Polymorphism ◽  
Third Trimester ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Screening

Abstract Introduction Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 336/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 136/7 weeks. Anatomy survey showed bilateral clubfeet, clinodactyly of the left fifth digit, micropenis, and echogenic bowel. Cytogenetics analysis revealed pentasomy 49,XXXXY syndrome. We report third-trimester sonographic features of a fetus with pentasomy 49,XXXXY and the importance of thorough pre- and posttest counseling for NIPS.

scholarly journals Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome

2016 ◽  
Vol 47 (2) ◽  
pp. 177-183 ◽  
Author(s):  
S. J. Gross ◽  
M. Stosic ◽  
D. M. McDonald‐McGinn ◽  
A. S. Bassett ◽  
A. Norvez ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Clinical Experience ◽  
Prenatal Screening ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Nucleotide Polymorphism ◽  
22Q11.2 Deletion ◽  
Single Nucleotide ◽  
Non Invasive
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