scholarly journals Noninvasive Prenatal Testing - When Is It Advantageous to Apply

2017 ◽  
Vol 2 (1) ◽  
pp. 1-11 ◽  
Author(s):  
Thomas Liehr ◽  
Angela Lauten ◽  
Uwe Schneider ◽  
Ekkehard Schleussner ◽  
Anja Weise
Keyword(s):  
Chromosomal Abnormalities ◽  
Risk Estimation ◽  
Prenatal Testing ◽  
Noninvasive Prenatal Testing ◽  
Advantages And Disadvantages ◽  
Sense Of Security ◽  
Clear Explanation ◽  
Increased Risk ◽  
False Sense ◽  
Induced Abortions

Nowadays it is common sense in obstetrics that an increased risk for pregnancy loss due to invasive testing does not exist. Nonetheless, noninvasive prenatal testing (NIPT) is a hot topic, even though this approach does not provide a reduction of unintentionally induced abortions. NIPT has a number of shortcuts which are highlighted in this review, including: (1) in NIPT placental rather than fetal DNA is studied, (2) NIPT fails in 2-6% of cases, and (3) trisomy 21 accounts for only ∼50% of existing chromosomal aberrations. Thus, we agree with the literature that NIPT is a fascinating possibility to gain information on unborn life from minimal amounts of DNA. However, it remains a pure risk estimation test directed towards the detection of specific chromosomal abnormalities from peripheral blood of the pregnant woman. It is important to highlight that families buying this test, and getting a normal result, may be provided with a false sense of security. Thus, careful and comprehensive genetic counselling should be performed before the test is offered, and should include a clear explanation of the advantages and disadvantages, as well as limitations, compared to other methods.

Opening forces or failure of commercially available equine headcollars and other safety devices

2021 ◽  
pp. 175433712110396
Author(s):  
David J Marlin ◽  
Kirstie Pickles ◽  
Roberta Ferro de Godoy ◽  
Jane M Williams
Keyword(s):  
Safety Devices ◽  
Risk Of Injury ◽  
Sense Of Security ◽  
Increased Risk ◽  
Custom Made ◽  
False Sense ◽  
Breaking Points ◽  
Horse Owners ◽  
Very High ◽  
Increasing Load

A recent survey by the authors of the present study indicated that headcollar (halter, USA) related incidents resulting in horse injuries may be common. From the survey, 134 incidents involving horse fractures and 167 fatalities were reported. Headcollar design and materials vary markedly from traditional leather to “safety” headcollars and safety devices. Despite their almost universal use, there has been minimal study as to how these items function or specifications for performance. The aim of the present study was to select a range of commercially available standard headcollars and a number of safety devices, to test the force required to break or release them. Safety devices selected included baler twine, which is widely used by equestrians to attach a horse by a headcollar to a lead rope and in turn to a fixture. This system practice is perceived to increase safety. Devices were subjected to increasing load in the poll to lead-rope attachment axis (i.e. to simulate a horse pulling backward) using a custom-made steel rig incorporating an electric 1000 kg winch. The force was increased incrementally until either the headcollar or device opened or failed. The lowest mean opening force of 357 ± 50 N was for a safety headcollar, which is equivalent to a load of approximately 36 kg. The highest breaking force was 5798 ± 265 N for one of the eight different webbing headcollars tested. Breaking for safety devices ranged from 354 ± 121 N for “fine” baler twine to 1348 ± 307 N for a “heavy duty” baler twine. Variability in opening force was lowest in two of the webbing headcollars (CV < 5%) despite these having very high breaking points (>3500 N). The greatest variability was found for fine baler twine (CV = 34%) and one of the commercial safety devices (CV = 38%). The range of opening forces and variability in opening forces for standard headcollars, safety headcollars and safety devices is a cause for concern and may give horse owners/handlers a false sense of security with regards to safety, and actually predispose horses and handlers to an increased risk of injury.

scholarly journals Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Biray Erturk ◽  
Emin Karaca ◽  
Ayca Aykut ◽  
Burak Durmaz ◽  
Ahmet Guler ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Chromosome 21 ◽  
Screening Tests ◽  
Sonographic Examination ◽  
Noninvasive Prenatal Testing ◽  
Abnormal Finding ◽  
Expression Levels ◽  
Increased Risk

Background. Currently, the data available on the utility of miRNAs in noninvasive prenatal testing is insufficient in the literature. We evaluated the expression levels of 14 miRNAs located on chromosome 21 in maternal plasma and their utility in noninvasive prenatal testing of Down Syndrome.Method. A total of 56 patients underwent invasive prenatal testing; 23 cases were carrying Down Syndrome affected fetuses, and 33 control cases carrying unaffected, normal karyotype fetuses were included for comparison. Indications for invasive prenatal testing were advanced maternal age, increased risk of Down Syndrome in screening tests, and abnormal finding in the sonographic examination. In both the study and control groups, all the pregnant women were at 17th and 18th week of gestation. miRNA expression levels were measured using real-time RT-PCR.Results. Significantly increased maternal plasma levels of miR-3156 and miR-99a were found in the women carrying a fetus with Down Syndrome.Conclusion. Our results provide a basis for multicenter studies with larger sample groups and microRNA profiles, particularly with the microRNAs which were found to be variably expressed in our study. Through this clinical research, the utility of microRNAs in noninvasive prenatal testing can be better explored in future studies.

Recent Advances in the Noninvasive Prenatal Testing for Chromosomal Abnormalities Using Maternal Plasma DNA

2020 ◽  
Vol 7 (1) ◽  
pp. 17-23 ◽  
Author(s):  
Tze Kin Lau ◽  
Xiaofan Zhu ◽  
Yvonne Ka Yin Kwok ◽  
Tak Yeung Leung ◽  
Kwong Wai Choy
Keyword(s):  
Chromosomal Abnormalities ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Plasma Dna ◽  
Noninvasive Prenatal Testing ◽  
Recent Advances

scholarly journals Next-generation sequencing: a follow-up of 36,913 singleton pregnancies with noninvasive prenatal testing in central China

2020 ◽  
Vol 37 (12) ◽  
pp. 3143-3150
Author(s):  
Wan Lu ◽  
Ting Huang ◽  
Xin-Rong Wang ◽  
Ji-Hui Zhou ◽  
Hui-Zhen Yuan ◽  
...  
Keyword(s):  
High Risk ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Central China ◽  
Jiangxi Province ◽  
Noninvasive Prenatal Testing ◽  
Predictive Values ◽  
Risk Pregnancy

Abstract Purpose To evaluate the noninvasive prenatal testing (NIPT) results of 36,913 cases in Jiangxi province of central China and explore its application value in prenatal screening and diagnosis. Methods This retrospective analysis included 36,913 singleton pregnant women who underwent NIPT because of moderate-/high-risk pregnancy or voluntary requirements between January 2017 and December 2019 in our hospital. Chromosomal abnormalities such as trisomies 21, 18, and 13 (T21, T18, T13) and sex chromosome aneuploidies (SCAs) were judged by standard Z-score analysis. Positive NIPT results were confirmed by amniocentesis and karyotyping. Pregnancy outcomes were followed up via telephone interview. Results A total of 1.01% (371/36,913) positive cases were detected by NIPT, comprising 137, 46, 31, and 157 cases of T21, T18, T13, and SCAs, respectively. A total of 116 of T21, 27 of T18, 13 of T13, and 51 of SCAs were confirmed to be true positive; all normal cases that had been followed up were verified to be true negative. The NIPT sensitivity in T21, T18, T13, and SCAs was 100.00% individually, whereas the specificity was 99.94% (36,488/36,509), 99.95% (36,579/36,598), 99.95% (36,594/36,612), and 99.72% (36,472/36,574), respectively. Furthermore, the negative predictive values of T21, T18, T13, and SCAs were all 100%, while the positive predictive values were 84.67%, 58.70%, 41.94%, and 33.33%, respectively. Conclusion NIPT is highly sensitive and has a low false positive rate in testing clinically significant fetal aneuploidies of general reproductive women. However, this technique cannot substitute for amniocentesis and karyotyping, and detailed genetic counseling is also essential for the high-risk group of NIPT.

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 Expanded Noninvasive Prenatal Testing for Chromosomal aneuploidies and Copy Number Variants in a Cohort of 16128 Single Pregnancies

2021 ◽  
Author(s):  
Jing He ◽  
Xuan Feng ◽  
Xing Wang ◽  
Qinghua Zhang ◽  
Lei Zheng ◽  
...  
Keyword(s):  
Copy Number ◽  
Chromosomal Abnormalities ◽  
Copy Number Variants ◽  
Prenatal Testing ◽  
True Positive ◽  
Noninvasive Prenatal Testing ◽  
Cell Free Fetal Dna ◽  
Monogenic Diseases ◽  
Positive Rate ◽  
Chromosomal Aneuploidies

Abstract Background: Noninvasive prenatal testing (NIPT) is based on second-generation genomic sequencing technology to scan cell-free fetal DNA originating from the placenta in maternal plasma. As the depth of sequencing increases, it can be used to focus on chromosomal aneuploidies, copy number variants (CNVs), and monogenic diseases. It can significantly improve the accuracy of prenatal screening and reduces the number of invasive testing.Methods: In this study, we retrospectively analyzed 16128 naturally conceived singleton pregnancies who underwent expanded NIPT to calculate the true positive rate (TPR) of chromosomal aneuploidies and CNVs, and analyzed the potential influence of maternal sex chromosome abnormalities (SCAs) and maternal CNVs on expanded NIPT results.Results: After invasive prenatal diagnosis and follow-up, 103 pregnancies were found to be true-positive, including 73 cases of chromosomal abnormalities and 30 cases of CNVs. The TPR of T21 was 84.62%, T18 was 50.00%, T13 was 22.22%, SCA was 34.06%, and CNVs was 40.28%. In addition, we found that the positive rate of aneuploidies increased with maternal age and that maternal SCAs accounted for 13.33% of the 60 false positive cases of SCAs.Conclusion: Expanded NIPT showed high sensitivity and specificity in detecting diseases of chromosomal abnormalities. It also shows good performance in detecting CNVs, but maternal SCAs and CNVs confused some NIPT results, indicating it is still necessary to study the potential maternal influence on expanded NIPT results and to report related clinical validation studies.

Platelet monitoring for PCI

2009 ◽  
Vol 29 (04) ◽  
pp. 376-380 ◽  
Author(s):  
D. Capodanno ◽  
D. J. Angiolillo
Keyword(s):  
Interindividual Variability ◽  
State Of The Art ◽  
Coronary Intervention ◽  
Functional Tests ◽  
Treatment Regimens ◽  
Advantages And Disadvantages ◽  
Coronary Syndrome ◽  
Combined Use ◽  
Increased Risk ◽  
Percutaneous Coronary

SummaryDespite the clinical benefit associated with the combined use of aspirin and clopidogrel in patients with acute coronary syndrome or those undergoing percutaneous coronary intervention, a considerable interindividual variability in response to these drugs have been consistently reported. There is a growing interest on applying platelet functional tests with the goal of identifying patients at increased risk of recurrent ischaemic events and potentially tailoring antiplatelet treatment regimens.This manuscript will review the state of the art on the most commonly available platelet functional tests, describing their advantages and disadvantages and exploring their applicability in clinical practice.

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