scholarly journals An Intelligent Prenatal Screening System for the Prediction of Trisomy-21 Using Triple Test Variables: The Hacettepe System

2018 ◽  
pp. 1
Author(s):  
Doruk Cevdi Katlan ◽  
Atakan Tanacan ◽  
Gokcen Orgul ◽  
Kemal Leblebicioglu ◽  
Mehmet Sinan Beksac
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Learning Algorithm ◽  
Antenatal Screening ◽  
Screening System ◽  
Triple Test ◽  
Beta Human Chorionic Gonadotropin ◽  
Input Variables

<p><strong>Objective:</strong> To introduce an intelligent prenatal screening system, using triple test variables.</p><p><strong>Study Design:</strong> In this study, we have used a backpropagation learning algorithm (a supervised artificial neural network) to develop an intelligent antenatal screening system (heretofore referred as Hacettepe System). Triple test variables were used as input variables, while “Down syndrome” and “non-Down syndrome” fetuses were the output of the algorithm. Unconjugated estriol (E3), beta-human chorionic gonadotropin, and α-feto protein with gestational week and maternal age (triple test) were used as input variables in the training and testing. Multiples of median values of the E3, α-feto protein, and beta-human chorionic gonadotropin were used in this study. <br />The testing group of Hacettepe system consisted of 97 patients who were found to be high-risk (&gt;1/250) during the routine antenatal screening (triple test) and underwent amniocentesis for fetal karyotyping. </p><p><strong>Results:</strong> Amniocentesis was performed in 97 pregnancies with “high-risk” triple test results (&gt;1/250). Fetal karyotyping revealed trisomy 21 in about 9.3% (9/97) of the pregnancies. Our algorithm (Hacettepe System) detected 77.8% (7/9) of Down syndrome cases. Moreover, all of the normal fetal karyotypes were assigned as normal in the Hacettepe System.</p><p><strong>Conclusion:</strong> We have developed an intelligent system using the backpropagation learning algorithm (using triple test variables) to predict trisomy 21.</p>

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 Trisomy 21 in both fetuses in a DCDA twin pregnancy

2019 ◽  
Vol 12 (4) ◽  
pp. e227608
Author(s):  
Jiawen Ong ◽  
Arundhati Gosavi ◽  
Arijit Biswas ◽  
Mahesh Choolani
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Twin Pregnancy ◽  
Prenatal Screening ◽  
Chorionic Villus ◽  
Screening Tests ◽  
In Vitro Fertilisation ◽  
Chorionic Villus Sampling ◽  
Detection Rates

A woman’s chances of having a child with Down syndrome increases with age. By age 40, the risk of conceiving a child with Down syndrome is about 1 in 100. We report a rare case of dizygotic dichorionic diamniotic twin pregnancy conceived via in vitro fertilisation, with both twins having trisomy 21. Both fetuses were independently detected to be at high risk of autosomal trisomy, initially via first-trimester screening and subsequently via invasive definitive diagnostic tests (ie, chorionic villus sampling and amniocentesis).Diagnosis of trisomy 21 has to be made via initial non-invasive prenatal screening, followed by further rigorous and accurate invasive pregnancy testing for confirmation. The gravity of the results necessitates high detection rates and high specificity of prenatal screening tests. Management of the patient must be multidisciplinary and supportive in nature, involving extensive and non-directive pregnancy counselling and management, genetic counselling and management of psychological distress.

The Effect of Inhibin A on Prenatal Screening Results for Down Syndrome in the High Risk Czech Pregnant Women

2019 ◽  
Vol 65 (05/2019) ◽  
Author(s):  
Jaroslav Loucký ◽  
Silvie Bělášková ◽  
Richard Průša ◽  
Karel Kotaška
Keyword(s):  
Down Syndrome ◽  
High Risk ◽  
Pregnant Women ◽  
Prenatal Screening ◽  
Inhibin A

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.

DESIGN AN “IN-HOUSE” SOFTWARE FOR CALCULTING THE RISK OF TRISOMY 21 AND OPEN NEURAL TUBE DEFECTS IN THE GESTATIONAL AGE 15 – 22 WEEKS

2012 ◽  
pp. 25-36
Author(s):  
Phan Tuong Quynh Le ◽  
Viet Nhan Nguyen
Keyword(s):  
Down Syndrome ◽  
Prenatal Diagnosis ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Gestational Age ◽  
Trisomy 21 ◽  
Prenatal Screening ◽  
Trisomy 18 ◽  
Edwards Syndrome ◽  
Microsoft Office

Objectives: Design an “in-house” software for calculating the risk of fetus has Down syndrome, Edwards syndrome and open neural tube defects in prenatal screening at the gestational age 15-22. Methods: Based on the Excel program of Microsoft Office and the articles with the Excel of Microsoft Office and the related articles have been published. Results: In cases have the risk of trisomy 21 with the range from 1/251 to 1/350: the risk tends to be lower than Prisca (83.7%). In cases have the high risks of trisomy 21 in screening but the results of prenatal diagnosis are not trisomy: the risks of “in house” software are lower than the risks of Prisca (73%) with 29% of cases has the risks less than 1/250. In cases of trisomy 18 with the risks are lower than 1/150: there are statistical significant differences between the two softwares (P <0.05). In screening open neural tube defects, the cases have the threshold higher than 1.50 MoM AFP: The results in the “in house” software tend to higher than Prisca (94%). The cases have the threshold lower than 1.50 MoM AFP: Where the disability screening of neural tube openings with thresholds lower than 1.5 MoM AFP: there are no statistical significant differences between the two softwares (P >0.05). Conclusion: The “in house” software has all the necessary functions for calculating the risk of Down syndrome, Edwards syndrome and open neural tube at the gestational age 15-22.

scholarly journals Introducing cell-free DNA noninvasive testing in a Down syndrome public health screening program: a budget impact analysis

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
L. Nshimyumukiza ◽  
J. A. Beaumont ◽  
F. Rousseau ◽  
D. Reinharz
Keyword(s):  
Down Syndrome ◽  
Trisomy 21 ◽  
Impact Analysis ◽  
Prenatal Screening ◽  
Budget Impact ◽  
Screening Program ◽  
Fiscal Year ◽  
System Perspective ◽  
Cell Free Fetal Dna ◽  
Current Screening

Abstract Background Non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma is a high accurate test for prenatal screening for Down syndrome. Although it has been reported to be cost effective as a contingent test, evidence about its budget impact is lacking. Objective To evaluate, using computer simulations, the budget impact of implementing NIPT as a contingent test in the Quebec Program of screening for Trisomy 21. Methods A semi-Markov analytic model built to simulate the budget impact of implementing NIPT into the current Quebec Trisomy 21 public Prenatal Screening, Serum Integrated prenatal screening (SIPS). Comparisons were made for a virtual population similar to that of expected Quebec pregnant women in 2015 in terms of size and age. Data input parameters were retrieved from a thorough literature search and in government databases, especially data from Quebec Program of screening for Trisomy 21. The 2015–2016 fiscal year budget impact was estimated from the Quebec healthcare system perspective and was expressed as the difference in the overall costs between the two alternatives (SIPS minus SPS + NIPT). Results Our study found that, at a baseline cost for NIPT of CAD$ 795, NIPT as a second-tier test offered to high-risk women identified by current screening program (SIPS + NIPT) may be affordable for Quebec health care system. Compared to the current screening program, it would be implemented at a neutral cost, considering a modest annual savings of $ 80,432 (95% CI $ 79, $ 874–$ 81,462). Results were sensitive to the NIPT costs and the uptake-rate of invasive diagnostic tests. Conclusion Introducing NIPT as a contingent test in the Quebec Trisomy 21 screening program is an affordable strategy compared to the current practice. Further research is needed to confirm if our results can be reproduced in other healthcare jurisdictions.

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 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 The importance of understanding individual differences in Down syndrome

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 389 ◽  
Author(s):  
Annette Karmiloff-Smith ◽  
Tamara Al-Janabi ◽  
Hana D'Souza ◽  
Jurgen Groet ◽  
Esha Massand ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Individual Differences ◽  
High Risk ◽  
Life Expectancy ◽  
Protective Factors ◽  
Trisomy 21 ◽  
Risk And Protective Factors ◽  
High Risk Population ◽  
Wide Range ◽  
New Research

In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences at every level of description. We argue that, in the context of significant increases in DS life expectancy, a focus on individual differences in trisomy 21 at all levels—genetic, cellular, neural, cognitive, behavioral, and environmental—constitutes one of the best approaches for understanding genotype/phenotype relations in DS and for exploring risk and protective factors for Alzheimer’s disease in this high-risk population.

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.

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