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.

Physicians' perception toward non-invasive prenatal testing through the eye of the Rogers' diffusion of innovation theory in China

2020 ◽  
Vol 36 (3) ◽  
pp. 239-244
Author(s):  
Yan Wei ◽  
Lizheng Shi ◽  
Jian Ming ◽  
Luyang He ◽  
Yan Xu ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Diffusion Of Innovation ◽  
Prenatal Screening ◽  
Prenatal Testing ◽  
Self Report ◽  
Patient Acceptance ◽  
Screening Methods ◽  
Hospital Competition ◽  
Cross Sectional ◽  
Non Invasive

ObjectivePhysicians' attitudes and adoption behavior toward the delivery of prenatal tests take vital significance for its influence on their professional practice and patient acceptance. This study aimed to identify how physicians have perceived the diffusion of non-invasive prenatal testing (NIPT) in China.MethodsA cross-sectional study was conducted from July 2016 to October 2016 in Shanghai, and Fujian and Sichuan Provinces in China. Physicians working on prenatal screening completed a self-report questionnaire. Following Roger's diffusion of innovation model, multivariable logistic regressions were performed separately for the following key elements of the theory which influence diffusion: physician-perceived attributes of NIPT, communication channels, the nature of the social system, the extent of change agent (who introduces innovations into a society), promotion efforts, and physicians' benefits from adopting NIPT.ResultsMost specialists had a positive attitude (53.2 percent) toward NIPT, whereas 58.9 percent of physicians had already adopted NIPT in their clinical practice. Physician adoption of NIPT was positively associated with the strength of HTA evidence (p = .03), perceived communication frequency with colleagues (p = .04), adoption by other physicians (p = .07), hospital competition (p = .06), hospital teaching status (p = .02), perceived for-profit genetic testing company's promotion (p < .001), and perceived clinical practice skill improvement (p = .02). However, the adoption behavior toward NIPT may be negatively associated with physician-perceived ethical concerns of NIPT (p = .06).ConclusionObstetricians and gynecologists’ positive perceptions facilitate the adoption of NIPT. Combined with cost-effectiveness analysis of prenatal screening methods, health policy makers can promote the adoption of appropriate, cost-effective prenatal screening in pregnant women.

scholarly journals The Clinical Application of Non-invasive Prenatal Genetic Testing in the Screening of Fetal Chromosomal Diseases

2021 ◽  
Author(s):  
Yu Pang ◽  
chaohong wang ◽  
Junxiang Tang ◽  
Jiansheng Zhu
Keyword(s):  
High Risk ◽  
Clinical Application ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosomal Abnormalities ◽  
Reference Value ◽  
Prenatal Testing ◽  
Trisomy 13 ◽  
Non Invasive ◽  
Chromosome Aneuploidy

Abstract Objective：To explore the efficacy and clinical application value of non-invasive prenatal testing (non-invasive prenatal testing, NIPT) for screening fetal chromosomal abnormalities. Methods: NIPT was performed on 25,517 pregnant women. The high-risk samples were compared with amniotic fluid and cord blood chromosome karyotype analysis. Some samples were further verified by microarray (CMA), and pregnancy outcomes were followed up. Results: Of all the cases examined, 25502 cases were detected successfully, and a total of 294 high-risk samples (1.15%) were detected, of which further diagnosis was made in 208 cases, true positive samples were detected in 96 cases, and further tests were refused in 86 cases.71 cases (0.28%) of autosomal aneuploid high-risk samples were detected and 51 cases were diagnosed, including 44 cases of trisomy 21 (T21), 5 cases of trisomy 18 (T18), and 2 cases of trisomy 13 (T13). The PPV was 90.90%, 45.45% and 33.33%, respectively. Thirteen high-risk samples of trisomy 21, 18, and 13 were detected, and 1 case was confirmed as T21 mosaic PPV was 8.33% NPV was 100%. High-risk samples of sex chromosome aneuploidy (SCA) were detected in 72 cases (0.28%), 23 cases were diagnosed, and the PPV was 40.07%. The PPV was 12.00%, 50.00%, 72.73% and 75.00%, respectively, and the PPV was 12.00%, 50.00%, 72.73% and 75.00%, respectively. High-risk samples of copy number variation (CNV) were detected in 104 cases (0.41%), and 18 cases were diagnosed, with a PPV of 32.14%. Other high-risk samples of chromosome aneuploidy were detected in 34 cases (0.13%), and 3 cases were diagnosed as T2, T9, and T16, respectively. PPV is 8.70%.Conclusion: NIPT is suitable for trisomy 21, 18, and 13 screening, especially for T21. It also has a certain reference value for SCA and microdeletion and microduplication syndromes（MMS）, and it is not recommended for screening for other chromosomal aneuploidies.

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.

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 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.

International experience in organizing non-invasive prenatal testing

2021 ◽  
Vol 20 (1) ◽  
pp. 129-137
Author(s):  
A.S. Olenev ◽  
◽  
E.E. Baranova ◽  
O.V. Sagaydak ◽  
A.M. Galaktionova ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Pregnant Woman ◽  
Prenatal Diagnosis ◽  
Prenatal Screening ◽  
Screening Method ◽  
Prenatal Testing ◽  
High Sensitivity ◽  
Non Invasive ◽  
The World ◽  
Chromosomal Aneuploidies

Non-invasive prenatal testinging (NIPT) is a relatively new method aimed at detecting fetal chromosomal aneuploidies by analyzing extracellular fetoplacental DNA in the blood of a pregnant woman. NIPT has high sensitivity and specificity, and many professional communities now recommend its use as a screening method. Since its introduction into clinical practice in Hong Kong in 2011, NIPT has expanded rapidly around the world. The experience of various countries in organizing non-invasive prenatal testing is described in this article. Key words: NIPT, non-invasive prenatal testing, extracellular fetoplacental DNA, prenatal screening, prenatal diagnosis, invasive prenatal diagnosis, aneuploidy

scholarly journals Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Zhu ◽  
Xiaoxiao Jin ◽  
Yuqing Xu ◽  
Weihua Zhang ◽  
Xiaodan Liu ◽  
...  
Keyword(s):  
High Risk ◽  
Pregnant Women ◽  
Predictive Value ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Advanced Maternal Age ◽  
Youden Index ◽  
Non Invasive ◽  
Sensitivity Specificity

Abstract Background Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women. Methods Twenty-nine thousand three hundred forty-three pregnant women at AMA with singleton pregnancy who received NIPS and followed-up were recruited. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV), receiver operating characteristic (ROC) curves and the Youden Index for detecting fetal chromosomal aneuploidies were analyzed. The relationship between maternal age and common fetal chromosomal aneuploidy was observed. Results The sensitivity, specificity, PPV, NPV of NIPS for detecting fetal trisomy 21 were 99.11, 99.96, 90.98, and 100%, respectively. These same parameters for detecting fetal trisomy 18 were 100, 99.94, 67.92, and 100%, respectively. Finally, these parameters for detecting trisomy 13 were 100, 99.96, 27.78, and 100%, respectively. The prevalence of fetal trisomy 21 increased exponentially with maternal age. The high-risk percentage incidence rate of fetal trisomy 21 was significantly higher in the pregnant women at 37 years old or above than that in pregnant women at 35 to 37 years old. (Youden index = 37). Conclusion It is indicated that NIPS is an effective prenatal screening method for pregnant women at AMA.

scholarly journals Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 15
Author(s):  
Luigi Carbone ◽  
Federica Cariati ◽  
Laura Sarno ◽  
Alessandro Conforti ◽  
Francesca Bagnulo ◽  
...  
Keyword(s):  
Prenatal Screening ◽  
Prenatal Testing ◽  
Non Invasive ◽  
Fetal Dna ◽  
Cell Free Fetal Dna ◽  
Common Causes ◽  
Future Challenges ◽  
Neurodevelopmental Impairment ◽  
Fetal Aneuploidies ◽  
Made In

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

Sign in / Sign up

Export Citation Format

Share Document