Clinical Application of Cell-Free DNA Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran

2019 ◽  
Vol 47 (3) ◽  
pp. 220-227 ◽  
Author(s):  
Masoud Garshasbi ◽  
Yicong Wang ◽  
Sedigheh Hantoosh Zadeh ◽  
Sima Giti ◽  
Solmaz Piri ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Clinical Application ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Risk Population ◽  
Cell Free Dna ◽  
Sex Chromosome Aneuploidy ◽  
Free Dna ◽  
Chromosome Aneuploidy

Maternal Source of False-Positive Fetal Sex Chromosome Aneuploidy in Noninvasive Prenatal Testing

2015 ◽  
Vol 125 (2) ◽  
pp. 390-392 ◽  
Author(s):  
Christopher J. McNamara ◽  
Laura A. Limone ◽  
Thomas Westover ◽  
Richard C. Miller
Keyword(s):  
False Positive ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Fetal Sex ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

2017 ◽  
Vol 37 (5) ◽  
pp. 515-520 ◽  
Author(s):  
Rosemary E. Reiss ◽  
Marie Discenza ◽  
Judith Foster ◽  
Lori Dobson ◽  
Louise Wilkins-Haug
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy

scholarly journals Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xinran Lu ◽  
Chaohong Wang ◽  
Yuxiu Sun ◽  
Junxiang Tang ◽  
Keting Tong ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Maternal Age ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Maternal Characteristics ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy ◽  
Prenatal Diagnostic

Abstract Objective To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in positive cases. Materials and methods We retrospectively analysed 45,773 singleton pregnancies with different characteristics that were subjected to NIPT in the Maternity and Child Health Hospital of Anhui Province. The results were validated by karyotyping. Clinical data, diagnostic results, and data on pregnancy outcomes were collected. Results In total, 314 cases were SCA positive by NIPT; among those, 143 underwent invasive prenatal diagnostic testing, and 58 were true-positive. Overall, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 12.5%, 51.72%, 66.67% and 83.33%, respectively. Interestingly, when only pregnant women of advanced maternal age (AMA) were screened, the PPVs for 45,X, 47,XXX, 47,XXY and 47,XYY were 23.81%, 53.33%, 78.95%, and 66.67%, respectively. The frequency of SCA was significantly higher in the AMA group than in the non-AMA group. The frequencies of 47,XXX and 47,XXY were significantly correlated with maternal age. Conclusion NIPT performed better in predicting sex chromosome trisomies than monosomy X, and patients with 45,X positive foetuses were more eager to terminate pregnancy than those with 47,XXX and 47,XYY. AMA may be a risk factor of having a foetus with SCA. Our findings may assist in genetic counselling of AMA pregnant women. Our pre- and posttest counselling are essential for familiarizing pregnant women with the benefits and limitations of NIPT, which may ease their anxiety and enable them to make informed choices for further diagnosis and pregnancy decisions.

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 Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis

2013 ◽  
Vol 35 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Kypros H. Nicolaides ◽  
Thomas J. Musci ◽  
Craig A. Struble ◽  
Argyro Syngelaki ◽  
M.M. Gil
Keyword(s):  
Dna Analysis ◽  
Sex Chromosome ◽  
Cell Free Dna ◽  
Fetal Sex ◽  
Sex Chromosome Aneuploidy ◽  
Free Dna ◽  
Chromosome Aneuploidy

Assessment of Fetal Sex Chromosome Aneuploidy Using Directed Cell-Free DNA Analysis

2014 ◽  
Vol 69 (5) ◽  
pp. 249-250 ◽  
Author(s):  
Kypros H. Nicolaides ◽  
Thomas J. Musci ◽  
Craig A. Struble ◽  
Argyro Syngelaki ◽  
Maria del Mar Gil
Keyword(s):  
Dna Analysis ◽  
Sex Chromosome ◽  
Cell Free Dna ◽  
Fetal Sex ◽  
Sex Chromosome Aneuploidy ◽  
Free Dna ◽  
Chromosome Aneuploidy

Sex Chromosome Aneuploidy Detection by Noninvasive Prenatal Testing

2017 ◽  
Vol 72 (10) ◽  
pp. 583-585
Author(s):  
Rosemary E. Reiss ◽  
Marie Discenza ◽  
Judith Foster ◽  
Lori Dobson ◽  
Louise Wilkins-Haug
Keyword(s):  
Sex Chromosome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Aneuploidy ◽  
Chromosome Aneuploidy
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