scholarly journals Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice

2018 ◽  
Vol 38 (11) ◽  
pp. 849-857 ◽  
Author(s):  
Junhui Wan ◽  
Ru Li ◽  
Yongling Zhang ◽  
Xiangyi Jing ◽  
Qiuxia Yu ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Pregnancy Outcome ◽  
Prenatal Testing ◽  
Routine Clinical Practice ◽  
Noninvasive Prenatal Testing

scholarly journals Noninvasive prenatal testing in routine clinical practice for a high-risk population

Medicine ◽  
2016 ◽  
Vol 95 (41) ◽  
pp. e5126 ◽  
Author(s):  
Guijie Qi ◽  
Jianping Yi ◽  
Baosheng Han ◽  
Heng Liu ◽  
Wanru Guo ◽  
...  
Keyword(s):  
Clinical Practice ◽  
High Risk ◽  
Prenatal Testing ◽  
Routine Clinical Practice ◽  
High Risk Population ◽  
Noninvasive Prenatal Testing ◽  
Risk Population

scholarly journals Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center

2021 ◽  
Author(s):  
Anahita Bajka ◽  
Michael Bajka ◽  
Fabian Chablais ◽  
Tilo Burkhardt
Keyword(s):  
Pregnancy Outcome ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Accurate Method ◽  
Test Results ◽  
Data Set ◽  
Single Nucleotide ◽  
Noninvasive Prenatal Testing ◽  
Positive Rate

Abstract Objectives Noninvasive prenatal testing (NIPT) is actually the most accurate method of screening for fetal chromosomal aberration (FCA). We used pregnancy outcome record to evaluate a complete data set of single nucleotide polymorphism-based test results performed by a Swiss genetics center. Materials and methods The Panorama® test assesses the risk of fetal trisomies (21, 18 and 13), gonosomal aneuploidy (GAN), triploidy or vanishing twins (VTT) and five different microdeletions (MD). We evaluated all 7549 test results meeting legal and quality requirements taken in women with nondonor singleton pregnancies between April 2013 and September 2016 classifying them as high or low risk. Follow-up ended after 9 months, data collection 7 months later. Results The Panorama® test provided conclusive results in 96.1% of cases, detecting 153 FCA: T21 n = 76, T18 n = 19, T13 n = 15, GAN n = 19, VTT n = 13 and MD n = 11 (overall prevalence 2.0%). Pregnancy outcome record was available for 68.6% of conclusive laboratory results, including 2.0% high-risk cases. In this cohort the Panorama® test exhibited 99.90% sensitivity for each trisomy; specificity was 99.90% for T21, 99.98% for T18 and 99.94% for T13. False positive rate was 0.10% for T21, 0.02% for T18 and 0.06% for T13. Conclusion SNP-based testing by a Swiss genetics center confirms the expected accuracy of NIPT in FCA detection.

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

2017 ◽  
Vol 44 (2) ◽  
pp. 85-90 ◽  
Author(s):  
Louise Kornman ◽  
Ricardo Palma-Dias ◽  
Debbie Nisbet ◽  
Fergus Scott ◽  
Melody Menezes ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Sex Chromosome ◽  
Prenatal Testing ◽  
Routine Clinical Practice ◽  
Sex Chromosome Aneuploidy ◽  
Non Invasive ◽  
Chromosome Aneuploidy

scholarly journals New technologies and trends of prenatal diagnostics

2017 ◽  
Vol 66 (2) ◽  
pp. 33-39 ◽  
Author(s):  
Tatyana K Kascheeva ◽  
Tatyana V Kuznetzova ◽  
Vladislav S Baranov
Keyword(s):  
Clinical Practice ◽  
New Technologies ◽  
Prenatal Testing ◽  
European Countries ◽  
New Method ◽  
Prenatal Diagnostics ◽  
Chromosomal Anomalies ◽  
Noninvasive Prenatal Testing ◽  
Material Supply ◽  
Management Problems

Advantages and drawbacks of noninvasive prenatal testing (NIPT) of chromosomal anomalies are briefly reviewed. Material supply, employment issues, financial and management problems in European countries and in Russia are discussed. Many problems are rising under implementation of this new method into the clinical practice.

scholarly journals Noninvasive prenatal testing: the aspects of its introduction into clinical practice

2019 ◽  
pp. 5-14
Author(s):  
D. O. Korostin ◽  
D. A. Plakhina ◽  
V. A. Belova
Keyword(s):  
Clinical Practice ◽  
Rapid Development ◽  
False Negative ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Negative Results ◽  
Free Dna ◽  
False Negative Results ◽  
Fetal Aneuploidies ◽  
Expert Community

The last couple of years have witnessed the rapid development of prenatal molecular-based screening for fetal aneuploidies that utilizes the analysis of cell-free DNA circulating in the bloodstream of a pregnant woman. The present review looks at the potential and limitations of such testing and the possible causes of false-positive and false-negative results. The review also describes the underlying principles of data acquisition and analysis the testing involves. In addition, we talk about the opinions held by the expert community and some aspects of legislation on the use of noninvasive prenatal testing (NIPT) in clinical practice in the countries where NIPT is much more widespread than in Russia.

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