Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large canadian urban centre

2006 ◽  
Vol 195 (6) ◽  
pp. S193 ◽  
Author(s):  
Nanette Okun ◽  
Anne Summers ◽  
Tianhua Huang ◽  
Barry Hoffman ◽  
Andrea Staines ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
First Trimester ◽  
Urban Centre

scholarly journals Prenatal screening for trisomy 21: a comparative performance and cost analysis of different screening strategies

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Tianhua Huang ◽  
Clare Gibbons ◽  
Shamim Rashid ◽  
Megan K. Priston ◽  
H. Melanie Bedford ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
Rolling Circle Amplification ◽  
False Positive Rate ◽  
Diagnostic Testing ◽  
First Trimester ◽  
Aneuploidy Screening ◽  
Comparative Performance ◽  
Cell Free Fetal Dna ◽  
Cfdna Screening

Abstract Background Prenatal screening for chromosome aneuploidies have constantly been evolving, especially with the introduction of cell-free fetal DNA (cfDNA) screening in the most recent years. This study compares the performance, costs and timing of test results of three cfDNA screening implementation strategies: contingent, reflex and primary. Methods We modelled enhanced first trimester screening (eFTS) as the first-tier test in contingent or reflex strategies. cfDNA test was performed contingent on or reflex from eFTS results. A comparison was made between cfDNA screening using sequencing technology and Rolling Circle Amplification (RCA)/imaging solution. All model assumptions were based on results from previous publications or information from the Ontario prenatal screening population. Results At an eFTS risk cut-off of ≥1/1000, contingent and reflex cfDNA screening have the same detection rate (DR) (94%) for trisomy 21. Reflex cfDNA screening using RCA/Imaging solution provided the lowest false positive rate and cost. The number of women requiring genetic counselling and diagnostic testing was significantly reduced and women received their cfDNA screening result 9 days sooner compared with the contingent model. While primary cfDNA screening improved the trisomy 21 DR by 3–5%, it was more costly and more women required diagnostic testing. Conclusion Reflex cfDNA screening is the most cost-effective prenatal screening strategy. It can improve the efficiency of prenatal aneuploidy screening by reducing the number of patient visits and providing more timely results.

Prospective experience with integrated prenatal screening and first trimester combined screening for trisomy 21 in a large Canadian urban center

2008 ◽  
Vol 28 (11) ◽  
pp. 987-992 ◽  
Author(s):  
Nanette Okun ◽  
Anne M. Summers ◽  
Barry Hoffman ◽  
Tianhua Huang ◽  
Elizabeth Winsor ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
First Trimester ◽  
Urban Center

scholarly journals Comparison of two immunoassay systems for hCGβ and PAPP-A in prenatal screening for trisomy 21, 18, and 13 in the first trimester

2017 ◽  
Vol 9 ◽  
pp. 18-23
Author(s):  
Anna Elise Engell ◽  
Elin Rebecka Carlsson ◽  
Finn Stener Jørgensen ◽  
Steen Sørensen
Keyword(s):  
Trisomy 21 ◽  
Prenatal Screening ◽  
First Trimester

scholarly journals Prenatal Screening of Aneuploidies

2021 ◽  
Author(s):  
Madhavilatha Routhu ◽  
Shiva Surya Varalakshmi Koneru
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Maternal Plasma ◽  
Structural Defects ◽  
Screening Methods ◽  
Second Trimester ◽  
History Of

Chromosomal abnormalities includes1) abnormalities in number of chromosomes which are known as aneuploidies and 2) structural defects like translocations and deletions. In this we will discuss about Aneuploidies The incidence of Aneuploidy is around one in 200 live births. Aneuploidy increases with advancing maternal age. Fetal aneuploidy has been associated with significant pregnancy complications such as growth restriction, congenital malformations and perinatal deaths. Several Major developments are happened in prenatal screening of Aneuploidy especially the introduction of first trimester screen with Nuchal thickness and fetal cell free DNA in maternal plasma and identification of ultrasound markers and biochemical screening in second trimester. In this chapter we will discuss about what are trisomies, why “Down syndrome” is important to detect prenatally, history of “Down syndrome”, advances in screening methods biochemical as well as sonographic markers in first and second trimester and the criteria to get those markers. What are the features of trisomy 21, trisomy18 and trisomy13.

scholarly journals Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method

2018 ◽  
Vol 37 (1) ◽  
pp. 62-66
Author(s):  
Jasmina Durković ◽  
Milan Ubavić ◽  
Milica Durković ◽  
Tibor Kis
Keyword(s):  
Down Syndrome ◽  
Biochemical Markers ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Protein A ◽  
First Trimester ◽  
Expected Value ◽  
Maternal Serum ◽  
Beta Hcg ◽  
Sensitivity Specificity

SummaryBackground: Genetic screening for chromosomopathy is performed in the first trimester of pregnancy by determining fetal nuchal translucency (NT), and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum. Methods: We tested the sensitivity, specificity, positive and negative expected values of each marker with the aim of setting a model for prenatal screening readings. Statistical data treatment has been performed on a sample of 340 pregnant women with positive results of prenatal screening. Results: Sensitivity of PAPP-A was 0.6250 (probability 62.50%), free beta HCG 0.5893 (58.93%), NT 0.1785 (17.85%). Specificity of PAPP-A was 0.5106 (probability 51.06%), free beta HCG 0.5246 (52.46%), NT 0.9718 (97.18%). Positive expected value of PAPP-A was 0.2011 (probability 20.11%), free beta HCG 0.1964 (19.64%), NT 0.556 (55.56%). Negative expected value of PAPP-A was 0.8735 (probability 87.35%), free beta HCG 0.8662 (86.62%), NT 0.8571 (85.71%). The NT marker has a significantly higher specificity, which means that its normal value will significantly reduce the final risk of trisomy 21. The sensitivity of NT is much lower than that of biochemical markers, which means that a pathological value of NT does not have a significant influence on the final risk, i.e. the significantly higher sensitivity of biochemical markers will reduce the final risk of trisomy 21. Conclusion: The analyses stress the importance of using a software which has the possibility to separate the level of a biochemical risk by correlating PAPP-A and free beta HCG and, by adding the NT marker, calculate the level of a final risk of Down syndrome.

Trends in early prenatal screening for chromosomal abnormalities and congenital malformations in Russia in 2018

2020 ◽  
pp. 76-78
Author(s):  
Е.А. Калашникова ◽  
Е.Н. Андреева ◽  
П.А. Голошубов ◽  
Н.О. Одегова ◽  
Е.В. Юдина ◽  
...  
Keyword(s):  
Reference Values ◽  
Congenital Malformations ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
First Trimester Screening ◽  
Trimester Screening ◽  
Overall Effectiveness ◽  
Regions Of Russia

В ходе анализа результатов раннего пренатального скрининга (РПС) в России за 2018 г. (Аудит-2019) дана оценка качества мероприятий, общей эффективности и тенденций развития системы РПС в субъектах РФ посредством сравнения рассчитанных основных организационных, методологических и интегральных показателей с международными референтными значениями. In the course of analyzing the results of early prenatal combined first-trimester screening (FTS) in Russia for 2018 (Audit-2019) the assessment of the quality of measures, the overall effectiveness and trends in the development of the FTS system in the regions of Russia. They are presented by comparing the calculated main organizational, methodological and integral indicators with international reference values.

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.

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