Noninvasive Prenatal Testing Nipt

Noninvasive Prenatal Testing  NIPT  PDF
Author: Lieve Page-Christiaens
Publisher: Academic Press
ISBN: 0128141905
Size: 70.32 MB
Format: PDF
Category : Medical
Languages : en
Pages : 405
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Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques

Experiences Of Women Receiving Failed Non Invasive Prenatal Testing Nipt Results

Experiences of Women Receiving Failed Non invasive Prenatal Testing  NIPT  Results PDF
Author: Kady Murphy
Publisher:
ISBN:
Size: 23.34 MB
Format: PDF, ePub
Category : Genetic counseling
Languages : en
Pages : 64
View: 5057

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Non-invasive prenatal testing (NIPT) is a relatively recent prenatal screening test that is rapidly being incorporated into clinical practice. All laboratories report a small percentage of samples as “no results” due to low fetal fraction, assay failure, or failed quality control metrics. There is emerging data demonstrating an increased risk of fetal chromosome abnormalities in patients who receive no results. The American College of Obstetricians and Gynecologists (ACOG) recently recommended women who receive no results for NIPT be offered comprehensive ultrasound evaluation and diagnostic testing. However, there is currently no broad consensus on clinical practice recommendations for these cases. The goal of this study was to determine what information women receive from their health care providers about failed NIPT results, how well they understand this information, and how they use this information to make decisions regarding follow-up testing. This study surveyed Kaiser Permanente women who received failed NIPT results. The study found that the majority were not aware of the possibility of a failed result, failed results caused significant anxiety, women who received more of their providers’ time were more satisfied, and participants were not satisfied when results were disclosed indirectly or by someone unqualified to provide further information. The results of this study may help determine how health care providers can best inform their patients who receive failed NIPT results so that the information is understood and used appropriately to make follow-up decisions.

Non Invasive Prenatal Testing Nipt For Fetal Sex Determination

Non invasive Prenatal Testing  NIPT  for Fetal Sex Determination PDF
Author: Sari S. Ormstad
Publisher:
ISBN:
Size: 27.64 MB
Format: PDF, Docs
Category :
Languages : en
Pages : 5
View: 1948

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X-linked recessive diseases are severe hereditary diseases that are manifested solely in males. If the mother is a carrier of an X-linked recessive disease, she can either have a healthy girl, a healthy girl who is a carrier like the mother, a healthy boy, or a boy that becomes ill with the X-linked disease. Current practice in Norway is that all pregnant women at increased risk of having a child with an X-linked recessive disease, are eligible for an invasive test (chorionic villus sampling or amniocentesis), without any determination of the fetal sex beforehand. Annually, 40-60 invasive tests are performed in this group of pregnant women in Norway. In non-invasive prenatal testing (NIPT), a blood sample of the pregnant woman is used to identify fetal sex. The method is based on the analysis of cell-free fetal DNA found in maternal blood early in pregnancy. The purpose of using NIPT for fetal sex determination is to avoid unnecessary invasive testing of pregnant women who carry a female fetus. We have summarized research findings on NIPT's diagnostic accuracy for fetal sex determination, as well as discussed clinical, health economic and ethical consequences related to NIPT used for fetal sex determination. Based on the findings: 1. Diagnostic accuracy of NIPT for fetal sex determination is very high. 2. Maternal blood samples taken in gestational week 7 or later provide more reliable results than blood samples taken before week 7. 3. Assuming 50 pregnant women are tested every year, 21 of these will avoid invasive testing. 4. Introduction of a program where NIPT is used in determination of fetal sex, will increase the annual total health care cost expendings by 197,000 Norwegian kroner.

Non Invasive Prenatal Test Nipt For Identification Of Trisomy 21 18 And 13

Non invasive Prenatal Test  NIPT  for Identification of Trisomy 21  18 and 13 PDF
Author: Lene K. Juvet
Publisher:
ISBN:
Size: 28.18 MB
Format: PDF, ePub
Category :
Languages : en
Pages : 4
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Currently, screening for trisomy (21,18 and 13) in Norway is based on a combination of blood tests and ultrasound (CUB) offered to all pregnant women 38 years of age or older. If the combined screening test indicates high risk, genetic verification via an invasive diagnostic test is offered either through chorionic villus sampling or amniocentesis. Non-Invasive Prenatal Testing (NIPT) measures the underlying genetic pathology of trisomies directly by analyzing fetal genetic material in the maternal circulation (cell-free fetal DNA, cffDNA). Several commercial testing strategies are available using different sequencing techniques for screening of trisomy 21, 18 and 13. We summarize research of diagnostic test accuracy of NIPT. In addition, we analyze health economic implications and highlight ethical consequences related to the national introduction of NIPT for detection of trisomy in pregnant women. Based on the evidence it seems that: 1. NIPT is a more accurate test for detecting trisomy than the CUB that is in use in Norway today. 2. A program with NIPT as a secondary test after CUB will result in fewer invasive tests and be more expensive than the current screening in Norway. 3. A program with NIPT as a primary test instead of CUB will also result in fewer invasive tests, but will be more expensive than both the current screening and if NIPT is used as secondary screeningtest. 4. NIPT is a test that challenges the underlying rationale for why and how we as a community and health service want to organize the fetal diagnostic services in Norway.

Non Invasive Prenatal Testing

Non invasive Prenatal Testing PDF
Author: Canadian Agency for Drugs and Technologies in Health
Publisher:
ISBN:
Size: 34.65 MB
Format: PDF, Kindle
Category :
Languages : en
Pages : 22
View: 1133

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Recent advances in genomic sequencing and bioinformatics have led to development of noninvasive detection methods with detection rates approaching those obtained with amniocentesis and chorionic villus sampling (CVS). Recently, a novel prenatal testing method has become available. This method, known as non-invasive prenatal testing (NIPT), is a molecular approach for assessing fetal aneuploidy using cell-free fetal deoxyribonucleic acid (cffDNA) from the plasma of pregnant women. NIPT has a false positive rate of about 0.2% and detection rate of about 98% for Down syndrome. NIPT has been used for assessing abnormalities such as trisomy 21, trisomy 18, and trisomy 13. Approximately 10% to 15% of the cell free deoxyribonucleic acid (DNA) in maternal blood comprises of cffDNA. The half-life of cffDNA is short and clears from maternal circulation soon after delivery. Hence, there is no risk of fetal DNA persisting from one pregnancy to the next and confounding test results. The cost of NIPT ranges from US$800 to US$2000 in the USA and from US$500 to US$1500 elsewhere. A Canadian economic study reported a cost range of C$600 to C$800 for NIPT. Among other factors, cost implications for introducing this new technology in clinical practice will need to be considered. At present there is some uncertainty around the incorporation of NIPT into current strategies for prenatal screening and diagnosis. The purpose of this report is to provide information on the cost-effectiveness of non-invasive pre-natal testing and to describe evidence-based guidelines for its use.

Nipt

NIPT PDF
Author:
Publisher:
ISBN: 9789461086471
Size: 35.91 MB
Format: PDF, ePub, Docs
Category :
Languages : en
Pages : 207
View: 7219

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Written Consent And Reproductive Autonomy In The Context Of Prenatal Screening

Written Consent and Reproductive Autonomy in the Context of Prenatal Screening PDF
Author: Stanislav Birko
Publisher:
ISBN:
Size: 18.26 MB
Format: PDF, Docs
Category :
Languages : en
Pages :
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Non-Invasive Prenatal Testing (NIPT) is a new generation of prenatal screening that poses no increased risk of miscarriage, can be performed earlier in the pregnancy, and is more accurate than previously existing technologies. These advantages, however, potentially contribute to eroding reproductive autonomy, already under threat from other screening methods. Between 2013 and 2017, a study titled PEGASUS was conducted, validating the performance and utility of NIPT, as well as studying the economic, ethical, legal and social implications of the technology. One of these activities was a series of surveys conducted throughout Canada in 2015-16. The present thesis is based on the data from the healthcare professionals' survey (N=184). This thesis addresses the relationship between healthcare professionals' beliefs regarding a) "informed consent" and b) "written consent" in the context of NIPT. It questions the established narrative in the bioethics literature, that professionals who believe written consent for NIPT is not important also believe consent procedures for NIPT "should become less rigorous" than those used for invasive prenatal testing (1). Data from the survey shows that it is precisely those professionals who care about reproductive autonomy considerations who doubt the importance of written consent for NIPT. This directly contradicts the narrative cited above. Professionals' stated views on "written consent" thus cannot be used to infer their unstated views on the importance of "informed consent". It is recommended to investigate particular practice-based considerations such as the ones in this study rather than querying survey respondents on scholarly concepts such as "consent" or "autonomy".

Women S Decision Making Process Regarding Prenatal Diagnostic Testing

Women s Decision Making Process Regarding Prenatal Diagnostic Testing PDF
Author: Marilena Tzafettas
Publisher:
ISBN:
Size: 77.43 MB
Format: PDF
Category : Fetus
Languages : en
Pages : 340
View: 6353

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Objective: Expanding the original scope of the study, which was to explore the decision-making process of pregnant women in the uptake of invasive diagnostic tests - amniocentesis and Chorionic Villus Sampling (CVS) ? and taking into account the latest emergence of a Noninvasive Prenatal Testing, NIPT, the primary goal of this study was to explore factors that influence women?s decision to have an invasive, a non-invasive or no further testing at all. Design and sample: The Prenatal Decision Making Questionnaire (PDMQ) developed for the purposes of this study. Following a pilot test and factor analysis, it was distributed to a population of pregnant women (N=421) prior to them receiving their combined screening results. The total sample was divided into three sub-groups according to their risk status (low-intermediate-high) for the analysis. Results. Logistic regression analysis using the R version 3.0.3 revealed that none of the PDMQ factors had a significant impact on women?s decision to have an invasive test (CVS), whereas the following three factors had a significant impact on the decision to have a non-invasive test (NIPT): negative attitude to doctors and an internal locus of control were associated with the uptake of NIPT, whereas a negative attitude to medicine was associated with rejection of NIPT When risk status was included in the model it was found that uptake of NIPT was predicted by the presence of some level of risk for T21 or T13/T18. On the contrary, uptake of CVS was only predicted by an increased risk for T21. Conclusion(s): Women?s decision making process in prenatal diagnosis is affected by several factors with personalised risk being one of the key determinants. The findings of this study can be used by healthcare professionals in providing the appropriate support and information and facilitating an informed decision during this stage of pregnancy.

Clinical Implementation Of Next Generation Sequencing In The Field Of Prenatal Diagnostics

Clinical Implementation of Next generation Sequencing in the Field of Prenatal Diagnostics PDF
Author: Gwendolin Manegold-Brauer
Publisher:
ISBN:
Size: 43.32 MB
Format: PDF, Kindle
Category : Medicine
Languages : en
Pages :
View: 2488

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The possibility to receive genetic information of the fetus from maternal blood during the course of pregnancy has been one of the main goals of research in prenatal medicine for decades. First, the detection of cell-free fetal DNA in maternal blood and finally, the development of the powerful technique of "next-generation sequencing" (NGS) were required to finally transfer this analysis into clinical practice. Since its introduction in 2011, the clinical demand for the technique of non-invasive prenatal testing (NIPT) has been enormous. NIPT initially was available for the most common aneuploidies (trisomy 21, 13, and 18), but the varieties of diseases that can be detected prenatally by NIPT are increasing rapidly.

Nipt In A Clinical Setting

NIPT in a Clinical Setting PDF
Author: Carly Kenyon
Publisher:
ISBN:
Size: 39.11 MB
Format: PDF, Docs
Category : Genetic counseling
Languages : en
Pages : 42
View: 3840

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Noninvasive prenatal testing (NIPT) has recently become clinically available for screening of fetal trisomies, creating an alternative to California State Prenatal Screening (CaPNS) as well as prenatal diagnostic tests. The study sought to investigate how NIPT functions in an HMO setting by focusing on women who were eligible for NIPT based on a positive CaPNS result in the Kaiser Northern California system. Study objectives included identifying the detection rate of screened trisomies, looking at the choice of NIPT based on various factors, and evaluating the use of NIPT as a second-tier test. Retrospective review was conducted for 811 pregnancies eligible for NIPT. After receiving a positive CaPNS result, 57.3% of patients chose NIPT as a follow-up test. There were no false-positives or false-negatives detected in this population. Women who received a trisomy 21 CaPNS positive result were significantly more likely to choose NIPT if they received their CaPNS result in the first trimester as opposed to the second. CaPNS risk score was not associated with test choice. A trend that women of Hispanic ancestry were slightly less likely to choose NIPT was observed. The presence of ultrasound findings and maternal age were also associated with choice of NIPT. Pregnancies with at least one ultrasound abnormality were more often associated with diagnostic testing rather than NIPT, and women age 40 and above were more likely to choose NIPT than women less than 40. Use of NIPT as a second-tier test was associated with a significantly longer test course than going straight from NIPT to diagnostic testing.

Cell Free Dna Based Noninvasive Prenatal Screening For Down Syndrome In The Quebec Healthcare System

Cell free DNA based Noninvasive Prenatal Screening for Down Syndrome in the Quebec Healthcare System PDF
Author:
Publisher:
ISBN:
Size: 24.10 MB
Format: PDF, Docs
Category :
Languages : en
Pages : 147
View: 5285

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Introduction: In the Province of Quebec, about 110,000 pregnant women are eligible to voluntary prenatal screening for trisomy 21(T21). Conventional screening strategies select about 4% of women for invasive fetal chromosome testing. Noninvasive prenatal testing using maternal blood cell-free DNA (NIPT) is a new highly accurate screening strategy that could reduce these invasive procedures but evidence about its health economic aspects (cost-effectiveness and affordability) is still lacking. Objectives: The objective of this thesis is to evaluate the expected health economic aspects of introducing NIPT into the Quebec trisomy 21 screening program. The first study systematically reviewed the literature of full economic evaluation studies on NIPT. The second study evaluated the expected cost-effectiveness of screening strategies incorporating NIPT, as well as conventional screening strategies. The third study evaluated the expected budget impact of implementing NIPT into the Quebec trisomy 21 screening program. Methodology: A systematic review of literature was performed for the first study. For the second and third studies, semi-Markov decision-analytic models were built to simulate the cost-effectiveness and the budget impact of NIPT for a virtual cohort of pregnant women similar to that of Quebec in terms of age and pregnancy rate by age. The main outcome for the cost-effectiveness analysis was the incremental cost per additional trisomy 21 detected. The main outcome for the budget impact analysis was the difference in the overall costs between the two alternatives: the current screening strategy vs. the most cost-effective strategy incorporating NIPT). Results: The first study included 16 studies. Results show that compared to current screening practice a universal NIPT screening program is not cost-effective. A program that offers NIPT to high risk pregnant women was found to be the most cost-effective option in the majority of studies included. The second study showed that NIPT as a second-tier test for high-risk women is cost-effective compared to screening algorithms not including NIPT. Out of 13 strategies compared, the integrated serum screening strategy followed by NIPT was the most cost-effective strategy. Other strategies can improve the number of T21 cases identified, but with increasing incremental costs per case (from $ 61,623 to $1,553,615). Results were sensitive to NIPT cost and cut-offs considered to determine high risk pregnant women. The third study found that NIPT as a second-tier test offered to high-risk women identified by the current screening program is affordable for the Quebec health care system. Compared to the current screening program, this strategy could be implemented at a neutral cost considering a modest yearly saving 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: NIPT as a second-tier test offered to high-risk women identified by the current screening program is cost-effective and affordable for the Quebec health care system. Decision makers should consider its introduction after considerations of others aspects such as ethical issues.

Wissen K Nnen D Rfen Wollen

Wissen k  nnen  d  rfen  wollen  PDF
Author: Susanne Brauer
Publisher: vdf Hochschulverlag AG
ISBN: 3728137480
Size: 75.12 MB
Format: PDF, Kindle
Category :
Languages : de
Pages : 452
View: 6730

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Neue Methoden der Genomanalyse erlauben es, im Blut einer schwangeren Frau festzustellen, ob krankhafte genetische Abweichungen beim Embryo vorliegen. Damit wird es vergleichsweise einfach, schon in einer frühen Phase der Schwangerschaft Aussagen über Chromosomen-Anomalien und weitere genetische Merkmale des Ungeborenen zu erhalten. Die seit wenigen Jahren erhältlichen nicht-invasiven Pränataltests (NIPT) sind gemäss ersten Erfahrungen sehr verlässlich, zudem entfallen die Risiken für den Fötus, die mit einer invasiven Untersuchung wie z.B. der Fruchtwasserpunktion einhergehen. Mit einer breiteren Anwendung der NIPT und mit der zunehmenden Anzahl von Krankheitsrisiken, die damit untersucht werden können, sind offene Fragen verbunden. Welche Tests sind sinnvoll? Wie gehen die Betroffenen mit den Informationen um? Wie wird die Beratung sichergestellt? In der interdisziplinären Studie werden Chancen und Risiken von vorgeburtlichen genetischen Untersuchungen abgeschätzt. Die Studie zeigt auf, wie sich die neuen Tests auf die Zukunft der pränatalen Diagnostik auswirken könnten, analysiert gesellschaftliche, ethische, rechtliche und ökonomische Fragen und formuliert Empfehlungen