Non-invasive prenatal screening for trisomy 21: What women want and are willing to pay

2013 ◽  
Vol 93 (3) ◽  
pp. 641-645 ◽  
Author(s):  
E.J. (Joanne) Verweij ◽  
Dick Oepkes ◽  
Marieke de Vries ◽  
M.E. (Elske) van den Akker ◽  
Eline S. van den Akker ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Non Invasive

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.

Non-invasive prenatal screening for trisomy 21: Consumers' perspectives

2015 ◽  
Vol 170 (2) ◽  
pp. 375-385 ◽  
Author(s):  
Emily C. Higuchi ◽  
Jane P. Sheldon ◽  
Brian J. Zikmund-Fisher ◽  
Beverly M. Yashar
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Non Invasive

A new approach of digital PCR system for non-invasive prenatal screening of trisomy 21

2018 ◽  
Vol 476 ◽  
pp. 75-80 ◽  
Author(s):  
Seung Yong Lee ◽  
Seung Jun Kim ◽  
Sung-Hee Han ◽  
Joon Soo Park ◽  
Hyo Jung Choi ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Digital Pcr ◽  
New Approach ◽  
Non Invasive

scholarly journals Efficiency of Non-invasive Prenatal Screening in Pregnant Women at Advanced Maternal Age

2021 ◽  
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: 29,343 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 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 Efficiency of Non-invasive Prenatal Screening in Pregnant Women at Advanced Maternal Age

2021 ◽  
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: 29,343 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 Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures

2019 ◽  
Vol 8 (9) ◽  
pp. 1311 ◽  
Author(s):  
Wendy DiNonno ◽  
Zachary Demko ◽  
Kimberly Martin ◽  
Paul Billings ◽  
Melissa Egbert ◽  
...  
Keyword(s):  
Test Performance ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
A Priori ◽  
High Sensitivity ◽  
Maternal Plasma ◽  
Predictive Values ◽  
Minimum Requirement ◽  
Non Invasive ◽  
Monosomy X

Non-invasive prenatal screening (NIPS) based on the analysis of cell-free DNA in maternal plasma has been shown to have high sensitivity and specificity. We gathered follow-up information for pregnancies in women with test-positive NIPS results from 2014–2017 with quarterly assessments of positive predictive values (PPVs). A non-inferiority analysis with a minimum requirement of 70%/80% of expected performance for trisomy 21 and 18 was used to ensure testing met expectations. PPVs were evaluated in the context of changes in the population receiving testing. For all quarters, PPVs for trisomies 21 and 18 exceeded the requirement of > 70% of the reference PPV. Overall observed PPVs for trisomy 21, 18, 13 and monosomy X were similar for women aged <35 (90.9%, 95% Confidence Interval (CI) 88.6–92.7%) compared to women with advanced maternal age (94.5%, 95% CI 93.1–95.6%). Despite significant declines in test-positive rates from 1.18% to 0.62% for trisomy 21, and from 0.75% to 0.48% for trisomies 18, 13 and monosomy X combined, PPVs remained stable through the four-year interval. We conclude that quarterly evaluation of PPV provides an overview of past testing and helps demonstrate long-term consistency in test performance, even in the setting of increasing use by women with lower a priori risks.

Giá trị của DNA thai tự do trong sàng lọc trước sinh không xâm lấn phát hiện lệch bội nhiễm sắc thể thai sử dụng công nghệ giải trình tự bán dẫn dựa vào phương pháp SeqFF

2019 ◽  
Vol 16 (4) ◽  
Author(s):  
Hai Yen Hoang ◽  
Duy Anh Nguyen ◽  
Minh Hien Nguyen ◽  
Thanh Van Ta
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Massive Parallel Sequencing ◽  
Z Score ◽  
Parallel Sequencing ◽  
Mau Mau ◽  
Non Invasive

Mục tiêu: Xác định giá trị của DNA thai tự do (cell-free fetal DNAcffDNA) trong sàng lọc trước sinh không xâm lấn (Non-Invasive Prenatal Screening-NIPS) phát hiện lệch bội nhiễm sắc thể (NST) 21, 18, 13 và nhiễm sắc thể giới tính thai sử dụng công nghệ giải trình tự bán dẫn dựa vào phương pháp SeqFF. Đối tượng và phương pháp nghiên cứu: Nghiên cứu thực hiện trên 1231 mẫu máu thai phụ mang thai đơn, có tuổi thai từ 10 tuần thai thuộc nhóm nguy cơ cao mang thai lệch bội nhiễm sắc thể. DNA tự do trong huyết tương mẹ được giải trình tự đồng thời, số lượng lớn các đoạn ngắn nucleotid (massive parallel sequencing–MPS) và phân tích bằng thuật toán tin sinh. Kết quả nghiên cứu: cffDNA cao hơn có ý nghĩa thống kê giữa nhóm NIPS dương tính với trisomy 21 và 18 (12,55% và 10,55%) so với nhóm NIPS âm tính (7,5%). Có mối tương quan thuận có ý nghĩa giữa hệ số z-score và tỷ lệ cffDNA nhóm NIPS dương tính với trisomy 21, 18, 13 (p<0,05). Giá trị tiên đoán dương cho các loại lệch bội NST 21, 18, 13 và NST giới tính lần lượt là 100%, 87%, 40%, 67% . Độ nhạy, độ đặc hiệu, giá trị tiên đoán dương, giá trị tiên đoán âm cho các loại lệch bội của NST lần lượt là 100%; 99,3%; 86% và 100%. Kết luận: Xét nghiệm sàng lọc trước sinh không xâm lấn phân tích cffDNA từ huyết tương mẹ, sử dụng công nghệ giải trình tự bán dẫn dựa vào phương pháp SeqFF là xét nghiệm sàng lọc với độ nhạy và độ đặc hiệu cao phát hiện trisomy 21, 18, 13 và lệch bội NST giới tính thai nhi trên nhóm thai phụ có nguy cơ cao mang thai lệch bội NST.

Sign in / Sign up

Export Citation Format

Share Document