scholarly journals Clinical performance of Non-invasive prenatal testing for sex chromosomal aneuploidies in Northeast China

2020 ◽  
Author(s):  
Lu Wang ◽  
Rulin Dai ◽  
Qingyang Shi ◽  
Yuting Jiang ◽  
Hongguo Zhang ◽  
...  
Keyword(s):  
False Positive ◽  
Northeast China ◽  
Sex Chromosome ◽  
Clinical Performance ◽  
False Positive Rate ◽  
False Negative ◽  
Prenatal Testing ◽  
Potential Method ◽  
Sequencing Platform ◽  
Non Invasive

Abstract Background: Along with the discovery of cell-free DNA (cfDNA) and the invention of next-generation sequencing (NGS), non-invasive prenatal testing (NIPT) had appeared and been applied for detecting common aneuploidies such as trisomy 21, 18, and 13, with low false-negative and false-positive rates. Recently, it had also been used for sex chromosome aneuploidies (SCAs). To assess the clinical utility of NIPT for SCAs in Northeast China, we collected NIPT data from BGI 500 sequencing platform in the Center for Reproductive Medicine, Center for Prenatal Diagnosis of the First Hospital of Jilin University, and calculate the positive predictive value (PPV) and false positive rate (FPR). Results: A cohort of 14936 samples were analyzed by NIPT, and revealed 70 cases with SCAs high-risk, among them, 40 women agreed to undergo amniocentesis, but as many as 30 ones refused further diagnose. Based on verified fetal karyotype, 30.0% (12/40) were confirmed to be a true positive. Unluckily, the PPV for monosomy X performed 0%. Besides, positive 47,XXX were 46.67% (7/15), 40.00% (2/5) were positive for 47, XYY, and 42.86% (3/7) were positive for 47, XXY.Conclusions: In conclusion, our present results confirmed that NIPT sequenced by BGI 500 demonstrated lowest PPVs for 45,X, but the more accurate prediction for other SCAs, it is still a potential method for SCAs screening. Henceforth, we should focus on how to improve the test utility and provide better services for pregnant women in need.

scholarly journals Clinical Performance of Non-Invasive Prenatal Testing for Sex Chromosomal Aneuploidies in Northeast China

2020 ◽  
Author(s):  
Lu Wang ◽  
Rulin Dai ◽  
Qingyang Shi ◽  
Yuting Jiang ◽  
Hongguo Zhang ◽  
...  
Keyword(s):  
False Positive ◽  
Northeast China ◽  
Sex Chromosome ◽  
Clinical Performance ◽  
False Positive Rate ◽  
False Negative ◽  
Prenatal Testing ◽  
Potential Method ◽  
Sequencing Platform ◽  
Non Invasive

Abstract Background: Along with the discovery of cell-free DNA (cfDNA) and the invention of next-generation sequencing (NGS), non-invasive prenatal testing (NIPT) had appeared and been applied for detecting common aneuploidies such as trisomy 21, 18, and 13, with low false-negative and false-positive rates. Recently, it had also been used for sex chromosome aneuploidies (SCAs). To assess the clinical utility of NIPT for SCAs in Northeast China, we collected NIPT data from BGI 500 sequencing platform in the Center for Reproductive Medicine, Center for Prenatal Diagnosis of the First Hospital of Jilin University, and calculate the positive predictive value (PPV) and false positive rate (FPR). Results: A cohort of 14936 samples were analyzed by NIPT, and revealed 70 cases with SCAs high-risk, among them, 40 women agreed to undergo amniocentesis, but as many as 30 ones refused further diagnose. Based on verified fetal karyotype, 30.0% (12/40) were confirmed to be a true positive. Unluckily, the PPV for monosomy X performed 0%. Besides, positive 47,XXX were 46.67% (7/15), 40.00% (2/5) were positive for 47, XYY, and 42.86% (3/7) were positive for 47, XXY.Conclusions: In conclusion, our present results confirmed that NIPT sequenced by BGI 500 demonstrated lowest PPVs for 45,X, but the more accurate prediction for other SCAs, it is still a potential method for SCAs screening. Henceforth, we should focus on how to improve the test utility and provide better services for pregnant women in need.

scholarly journals Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

2020 ◽  
Vol 102 ◽  
Author(s):  
Alvaro Mesoraca ◽  
Katia Margiotti ◽  
Claudio Dello Russo ◽  
Anthony Cesta ◽  
Antonella Cima ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Clinical Performance ◽  
False Negative ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Trisomy 13 ◽  
Sequencing Platform ◽  
Non Invasive ◽  
Negative Results ◽  
False Negative Results

Abstract Introduction Non-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy. Methods This study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy. Results In this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results. Conclusion In our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21.

Reducing false positive rate of fetal monosomy X in non‐invasive prenatal testing using a combined algorithm to detect maternal mosaic monosomy X

2019 ◽  
Vol 39 (4) ◽  
pp. 324-327 ◽  
Author(s):  
Minh‐Duy Phan ◽  
Binh T. Vo ◽  
Thong V. Nguyen ◽  
Nhat‐Thang Tran ◽  
Huong N.T. Trinh ◽  
...  
Keyword(s):  
False Positive ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Monosomy X ◽  
Positive Rate ◽  
Combined Algorithm

scholarly journals Performance of non-invasive prenatal testing for foetal chromosomal abnormalities in 1048 twin pregnancies

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yuan Cheng ◽  
Xinran Lu ◽  
Junxiang Tang ◽  
Jingran Li ◽  
Yuxiu Sun ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Clinical Value ◽  
Non Invasive ◽  
Negative Results ◽  
Negative Case ◽  
Twin Pregnancies

Abstract Objective To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies. Materials and methods In a 4-year period, 1048 women with twin pregnancies were voluntarily prospectively tested by NIPT to screen for chromosomal abnormalities by sequencing cell-free foetal DNA (cffDNA) in maternal plasma. Positive NIPT results were confirmed by karyotyping, while negative results were followed up 42 days after delivery. Results Thirteen women had positive NIPT results as follows: 2 cases of trisomy 21 (T21), 1 of trisomy 18 (T18), 7 of sex chromosome aneuploidy (SCA), 1 of microdeletion, and 2 of microduplication. Of these 13 cases, 2 were true-positive cases confirmed by foetal karyotype analysis, namely, 1 case of T21 and 1 of microdeletion. Furthermore, the remaining 11 high-risk pregnant women were confirmed as false positive by foetal karyotyping. Thus, the combined positive predictive value (PPV) of NIPT screening for chromosomal abnormalities in twin pregnancies was 15.4% (2/13). There were no false-negative case via our follow-up results. Conclusion Safe and rapid NIPT has a certain clinical application value; however, the PPV is limited, and the screening efficiency is not stable. Careful use should be made in the screening of chromosomal abnormalities in twin pregnancies.

scholarly journals New screen on the block: non-invasive prenatal testing for fetal chromosomal abnormalities

2017 ◽  
Vol 9 (4) ◽  
pp. 248 ◽  
Author(s):  
Sara Filoche ◽  
Beverley Lawton ◽  
Angela Beard ◽  
Anthony Dowell ◽  
Peter Stone
Keyword(s):  
False Positive ◽  
Chromosomal Abnormalities ◽  
False Positive Rate ◽  
Prenatal Testing ◽  
Diagnostic Procedures ◽  
First Trimester ◽  
Maternal Blood ◽  
Non Invasive ◽  
Positive Rate ◽  
Trimester Screening

ABSTRACT Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value. The low false-positive rate (1–3%) is one of the most advertised advantages of NIPT. In practice, this could lead to a significant reduction in the number of false-positive tests and the need for invasive diagnostic procedures. NIPT is now suitable for singleton and twin pregnancies and can be performed from ~10 weeks in a pregnancy. NIPT is not currently publicly funded in most countries. However, the increasing availability of NIPT commercially will likely lead to an increase in demand for this as a screening option. Given the high numbers of women who visit a general practitioner (GP) in their first trimester, GPs are well-placed to also offer NIPT as a screening option. A GP’s role in facilitating access to this service will likely be crucial in ensuring equity in access to this technology, and it is important to ensure that they are well supported to do so.

scholarly journals Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience.

2020 ◽  
Author(s):  
Katia Margiotti ◽  
Anthony Cesta ◽  
Claudio Dello Russo ◽  
Antonella Cima ◽  
Maria Antonietta Barone Barone ◽  
...  
Keyword(s):  
Test Performance ◽  
Sex Chromosome ◽  
Clinical Performance ◽  
Prenatal Testing ◽  
Potential Method ◽  
True Positive ◽  
Noninvasive Prenatal Testing ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Next Generation Sequencing Ngs

Abstract Objective : Noninvasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs). In this study, the clinical performance of our fetal DNA testing was investigated by analyzing the sex chromosome aneuploidy aberrations among 9985 pregnancies. The study was a retrospective analysis of collected NIPT data from the Ion S5 Next-Generation Sequencing (NGS) platform obtained from Altamedica Medical Centre of Rome. Results : NIPT analysis of 9985 pregnancies revealed 31 cases with abnormal SCA results (0.31%). Among the 31 positive NIPT cases, 22 women agreed to undergo fetal karyotyping, whereas 9 refused further analyses. Of the 22 women verified by karyotyping analysis, 77.3% (17/22) were confirmed to be true positive SCAs, whereas 22.7% (5/22) were false positive. Among the true positive cases, 53.0% (9/17) were positive for monosomy X, 17.6% (3/17) were positive for 47,XXX aneuploidy, 23.5% (4/17) were positive for 47,XXY aneuploidy, and 5.9% (1/17) were positive for 47,XYY aneuploidy. In conclusion, the present results confirm that NIPT is a potential method for SCA screening, although this technology needs to be further investigated to improve the test performance.

scholarly journals Prenatal screening in the era of non-invasive prenatal testing: a Nationwide cross-sectional survey of obstetrician knowledge, attitudes and clinical practice

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Liying Yang ◽  
Wei Ching Tan
Keyword(s):  
Clinical Practice ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Sex Chromosome ◽  
False Positive Rate ◽  
Significant Proportion ◽  
Prenatal Testing ◽  
First Line ◽  
Non Invasive ◽  
The Common

Abstract Background Non-invasive prenatal testing (NIPT) has revolutionized the prenatal screening landscape with its high accuracy and low false positive rate for detecting Trisomy 21, 18 and 13. Good understanding of its benefits and limitations is crucial for obstetricians to provide effective counselling and make informed decisions about its use. This study aimed to evaluate obstetrician knowledge and attitudes regarding NIPT for screening for the common trisomies, explore how obstetricians integrated NIPT into first-line and contingent screening, and determine whether expanded use of NIPT to screen for sex chromosome aneuploidies (SCAs) and microdeletion/microduplication syndromes (CNVs) was widespread. Methods A questionnaire was designed and administered with reference to the CHERRIES criteria for online surveys. Doctors on the Obstetrics & Gynaecology trainee and specialist registers were invited to participate. Medians and 95% confidence intervals (CI) were reported for confidence and knowledge scores. Results 94/306 (30.7%) doctors responded to the survey. First trimester screening (FTS) remained the main method offered to screen for the common trisomies. 45.7% (43/94) offered NIPT as an alternative first-line screen for singletons and 30.9% (29/94) for monochorionic diamniotic twins. A significant proportion offered concurrent NT and NIPT (25/94, 26.6%), or FTS and NIPT (33/94, 35.1%) in singletons. Varying follow up strategies were offered at intermediate, high and very-high FTS risk cut-offs for Trisomy 21. Respondents were likely to offer screening for SCAs and CNVs to give patients autonomy of choice (53/94, 56.4% SCAs, 47/94, 50% CNVs) at no additional cost (52/94, 55.3% SCAs, 39/94, 41.5% CNVs). Median clinical knowledge scores were high (10/12) and did not differ significantly between specialists (95% CI 10–11) and non-specialists (95% CI 9.89–11). Lower scores were observed for scenarios in which NIPT would be more likely to fail. Conclusions Our findings show the diversity of clinical practice with regard to the incorporation of NIPT into prenatal screening algorithms, and suggest that the use of NIPT both as a first-line screening tool in the general obstetric population, and to screen for SCAs and CNVs, is becoming increasingly prevalent. Clear guidance and continuing educational support are essential for providers in this rapidly evolving field.

scholarly journals Preliminary Results of MyCog, a Brief Assessment for the Detection of Cognitive Impairment in Primary Care

2020 ◽  
Vol 4 (Supplement_1) ◽  
pp. 259-260
Author(s):  
Laura Curtis ◽  
Lauren Opsasnick ◽  
Julia Yoshino Benavente ◽  
Cindy Nowinski ◽  
Rachel O’Conor ◽  
...  
Keyword(s):  
Primary Care ◽  
Cognitive Impairment ◽  
Cognitive Aging ◽  
False Positive ◽  
False Positive Rate ◽  
False Negative ◽  
False Negative Rate ◽  
Self Report ◽  
Card Sorting ◽  
Primary Care Settings

Abstract Early detection of Cognitive impairment (CI) is imperative to identify potentially treatable underlying conditions or provide supportive services when due to progressive conditions such as Alzheimer’s Disease. While primary care settings are ideal for identifying CI, it frequently goes undetected. We developed ‘MyCog’, a brief technology-enabled, 2-step assessment to detect CI and dementia in primary care settings. We piloted MyCog in 80 participants 65 and older recruited from an ongoing cognitive aging study. Cases were identified either by a documented diagnosis of dementia or mild cognitive impairment (MCI) or based on a comprehensive cognitive battery. Administered via an iPad, Step 1 consists of a single self-report item indicating concern about memory or other thinking problems and Step 2 includes two cognitive assessments from the NIH Toolbox: Picture Sequence Memory (PSM) and Dimensional Change Card Sorting (DCCS). 39%(31/80) participants were considered cognitively impaired. Those who expressed concern in Step 1 (n=52, 66%) resulted in a 37% false positive and 3% false negative rate. With the addition of the PSM and DCCS assessments in Step 2, the paradigm demonstrated 91% sensitivity, 75% specificity and an area under the ROC curve (AUC)=0.82. Steps 1 and 2 had an average administration time of <7 minutes. We continue to optimize MyCog by 1) examining additional items for Step 1 to reduce the false positive rate and 2) creating a self-administered version to optimize use in clinical settings. With further validation, MyCog offers a practical, scalable paradigm for the routine detection of cognitive impairment and dementia.

scholarly journals Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland China

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 478
Author(s):  
Yunli Lai ◽  
Xiaofan Zhu ◽  
Sheng He ◽  
Zirui Dong ◽  
Yanqing Tang ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
False Negative ◽  
Prenatal Testing ◽  
Read Depth ◽  
Trisomy 13 ◽  
Prognostic Information ◽  
Aneuploidy Screening ◽  
Predictive Values ◽  
Risk Result

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of common aneuploidies in a population-based study, a total of 86,262 single pregnancies referred for NIPS were prospectively recruited. Among 86,193 pregnancies with reportable results, follow-up was successfully conducted in 1160 fetuses reported with a high-risk result by NIPS and 82,511 cases (95.7%) with a low-risk result. The screen-positive rate (SPR) of common aneuploidies and sex chromosome abnormalities (SCAs) provided by NIPS were 0.7% (586/83,671) and 0.6% (505/83,671), respectively. The positive predictive values (PPVs) for Trisomy 21, Trisomy 18, Trisomy 13 and SCAs were calculated as 89.7%, 84.0%, 52.6% and 38.0%, respectively. In addition, less rare chromosomal abnormalities, including copy number variants (CNVs), were detected, compared with those reported by NIPS with higher read-depth. Among these rare abnormalities, only 23.2% (13/56) were confirmed by prenatal diagnosis. In total, four common trisomy cases were found to be false negative, resulting in a rate of 0.48/10,000 (4/83,671). In summary, this study conducted in an underdeveloped region with limited support for the new technology development and lack of cost-effective prenatal testing demonstrates the importance of implementing routine aneuploidy screening in the public sector for providing early detection and precise prognostic information.

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