Noninvasive prenatal testing for DiGeorge syndrome: is it ready for clinical practice?

2021 ◽  
Author(s):  
Yuan Zhao ◽  
Dong-Zhi Li
Keyword(s):  
Clinical Practice ◽  
Digeorge Syndrome ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing

None

Taiwanese Clinical Experience with Noninvasive Prenatal Testing for DiGeorge Syndrome

2021 ◽  
pp. 1-6
Author(s):  
Tzu-Yi Lin ◽  
T’sang-T’ang Hsieh ◽  
Po-Jen Cheng ◽  
Tai-Ho Hung ◽  
Kok-Seong Chan ◽  
...  
Keyword(s):  
High Risk ◽  
Digeorge Syndrome ◽  
Prenatal Testing ◽  
Cardiac Anomaly ◽  
Comparative Genomic ◽  
Noninvasive Prenatal Testing ◽  
Maternal Fetal Medicine ◽  
Chromosome 22Q11 ◽  
Predictive Rate

<b><i>Objective:</i></b> DiGeorge syndrome (DGS) is associated with microdeletions of chromosome 22q11. It is the second most common cause of congenital heart disease and is an important consideration whenever a conotruncal cardiac anomaly is identified. The availability of noninvasive prenatal testing (NIPT) is altering the practice of prenatal genetics and maternal-fetal medicine, resulting in a decline in invasive testing. Antenatal ultrasound and other biomarkers have their own limitation. NIPT was proposed to screen DGS with cell-free DNA in Taiwan. Here, we present our experience of prenatal diagnosis of DGS in our center. <b><i>Methods:</i></b> This was a retrospective study between November 1, 2019, and August 31, 2020, in Taiwan. Data were collected from 7,826 pregnant women self-referred for DGS screening with massive parallel shotgun sequencing-based NIPT. High-risk cases subsequently received amniocentesis for array comparative genomic hybridization (aCGH) to confirm the diagnosis. Characteristics of pregnancies were documented when participants received the test. Report of NIPT was completed 2 weeks after the test. Follow-up on high-risk cases was completed by telephone interview on January 30, 2021. <b><i>Results:</i></b> Thirteen cases showed high risk by NIPT, and 7 cases were confirmed by aCGH. The sensitivity and specificity were 100% (95% confidence interval [CI] 64.57–100.00%) and 99.92% (95% CI 99.83–99.96%). The prevalence of DGS was 1 in 1,118 pregnancies. The positive predictive rate was 53.85% (95% CI 29.14–76.79%). One true positive (TP) showed US anomaly, and 5 TPs selected termination. <b><i>Discussion/Conclusion:</i></b> NIPT demonstrated good performance in DGS screening. Detection of 22q11.2 deletion could be combined with routine screening to facilitate proper intervention.

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 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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