scholarly journals Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions

2017 ◽  
Vol 93 (2) ◽  
pp. 293-300 ◽  
Author(s):  
K. Martin ◽  
S. Iyengar ◽  
A. Kalyan ◽  
C. Lan ◽  
A.L. Simon ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Clinical Experience ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Non Invasive ◽  
Prenatal Test ◽  
Clinically Significant

scholarly journals Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy

2019 ◽  
Vol 8 (7) ◽  
pp. 937 ◽  
Author(s):  
Errol R. Norwitz ◽  
Gabriel McNeill ◽  
Akshita Kalyan ◽  
Elizabeth Rivers ◽  
Ebad Ahmed ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Monozygotic Twins ◽  
Maternal Plasma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Fetal Sex ◽  
Non Invasive ◽  
Prenatal Test ◽  
Blinded Study ◽  
The Mean

We analyzed maternal plasma cell-free DNA samples from twin pregnancies in a prospective blinded study to validate a single-nucleotide polymorphism (SNP)-based non-invasive prenatal test (NIPT) for zygosity, fetal sex, and aneuploidy. Zygosity was evaluated by looking for either one or two fetal genome complements, fetal sex was evaluated by evaluating Y-chromosome loci, and aneuploidy was assessed through SNP ratios. Zygosity was correctly predicted in 100% of cases (93/93; 95% confidence interval (CI) 96.1%–100%). Individual fetal sex for both twins was also called with 100% accuracy (102/102; 95% weighted CI 95.2%–100%). All cases with copy number truth were also correctly identified. The dizygotic aneuploidy sensitivity was 100% (10/10; 95% CI 69.2%–100%), and overall specificity was 100% (96/96; 95% weighted CI, 94.8%–100%). The mean fetal fraction (FF) of monozygotic twins (n = 43) was 13.0% (standard deviation (SD), 4.5%); for dizygotic twins (n = 79), the mean lower FF was 6.5% (SD, 3.1%) and the mean higher FF was 8.1% (SD, 3.5%). We conclude SNP-based NIPT for zygosity is of value when chorionicity is uncertain or anomalies are identified. Zygosity, fetal sex, and aneuploidy are complementary evaluations that can be carried out on the same specimen as early as 9 weeks’ gestation.

scholarly journals Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism–based noninvasive prenatal test

2015 ◽  
Vol 212 (1) ◽  
pp. 79.e1-79.e9 ◽  
Author(s):  
Kirsten J. Curnow ◽  
Louise Wilkins-Haug ◽  
Allison Ryan ◽  
Eser Kırkızlar ◽  
Melissa Stosic ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Prenatal Test ◽  
Twin Pregnancies

scholarly journals Non-Invasive Prenatal Detection of Trisomy 13 Using a Single Nucleotide Polymorphism- and Informatics-Based Approach

PLoS ONE ◽  
2014 ◽  
Vol 9 (5) ◽  
pp. e96677 ◽  
Author(s):  
Megan P. Hall ◽  
Matthew Hill ◽  
Bernhard Zimmermann ◽  
Styrmir Sigurjonsson ◽  
Margaret Westemeyer ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Trisomy 13 ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Non Invasive ◽  
Prenatal Detection
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