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 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

The Setup and Application of Reference Material in Sequencing-Based Noninvasive Prenatal Testing

2021 ◽  
pp. 1-9
Author(s):  
Shoufang Qu ◽  
Yanyan Zhang ◽  
Xin Yang ◽  
Yueqiu Tan ◽  
Ming Li ◽  
...  
Keyword(s):  
Quality Control ◽  
Reference Material ◽  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Chromosomal Anomalies ◽  
Noninvasive Prenatal Testing ◽  
Ion Proton ◽  
Standard Quality ◽  
Potential Factors ◽  
Comprehensive Reference

<b><i>Introduction:</i></b> The sequencing-based noninvasive prenatal testing (NIPT) has been successfully integrated into clinical practice and facilitated the early detection of fetal chromosomal anomalies. However, a comprehensive reference material to evaluate and quality control NIPT services from different NIPT providers remains unavailable. <b><i>Methods:</i></b> In this study, we established a set of NIPT reference material consisting of 192 simulated samples. Most of the potential factors influencing the accuracy of NIPT, such as fetal fraction, mosaicism, and interfering substances, were included in the reference material. We compared the performance of chromosomal abnormalities detection on 3 widely used sequencers (NextSeq 500, BGISEQ-500, and Ion Proton) based on the reference material. <b><i>Results:</i></b> All 3 sequencers provided highly accurate and reliable results to samples with ≥3.5% fetal fractions and high percentage of mosaicism. <b><i>Conclusions:</i></b> The established reference material can serve as a universal standard quality control for the current and new-coming NIPT providers based on various sequencers.

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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