Skip to main content

Noninvasive Prenatal Testing

In Order to Read Online or Download Noninvasive Prenatal Testing Full eBooks in PDF, EPUB, Tuebl and Mobi you need to create a Free account. Get any books you like and read everywhere you want. Fast Download Speed ~ Commercial & Ad Free. We cannot guarantee that every book is in the library!

Noninvasive Prenatal Testing NIPT

Noninvasive Prenatal Testing  NIPT  Book
Author : Lieve Page-Christiaens,Hanns-Georg Klein
Publisher : Academic Press
Release : 2018-08-19
ISBN : 0128141905
Language : En, Es, Fr & De

GET BOOK

Book Description :

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

NIPT

NIPT Book
Author : Anonim
Publisher : Unknown
Release : 2014
ISBN : 9789461086471
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download NIPT book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Non invasive Prenatal Testing

Non invasive Prenatal Testing Book
Author : Canadian Agency for Drugs and Technologies in Health
Publisher : Unknown
Release : 2014
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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.

Implementing Non invasive Prenatal Testing NIPT

Implementing Non invasive Prenatal Testing  NIPT  Book
Author : Anonim
Publisher : Unknown
Release : 2016
ISBN : 9789402803891
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Implementing Non invasive Prenatal Testing NIPT book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Non invasive Prenatal Testing

Non invasive Prenatal Testing Book
Author : Lean Beulen
Publisher : Unknown
Release : 2016
ISBN : 9789492303080
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Non invasive Prenatal Testing book written by Lean Beulen, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Introduction of Non invasive Prenatal Testing as a First tier Aneuploidy Screening Test A Survey Among Dutch Midwives about Their Role as Counsellors

Introduction of Non invasive Prenatal Testing as a First tier Aneuploidy Screening Test  A Survey Among Dutch Midwives about Their Role as Counsellors Book
Author : Anonim
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Introduction of Non invasive Prenatal Testing as a First tier Aneuploidy Screening Test A Survey Among Dutch Midwives about Their Role as Counsellors book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Cell free Fetal DNA cffDNA Enrichment for Non invasive Prenatal Testing NIPT

Cell free Fetal DNA  cffDNA  Enrichment for Non invasive Prenatal Testing  NIPT  Book
Author : Kelly Sillence
Publisher : Unknown
Release : 2016
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Cell free Fetal DNA cffDNA Enrichment for Non invasive Prenatal Testing NIPT book written by Kelly Sillence, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Non invasive Prenatal Testing NIPT for Fetal Sex Determination

Non invasive Prenatal Testing  NIPT  for Fetal Sex Determination Book
Author : Sari S. Ormstad,Anna Stoinska-Schneider,Berge Solberg,Brynjar Fure,Lene K. Juvet
Publisher : Unknown
Release : 2016
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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 Book
Author : Lene K. Juvet
Publisher : Unknown
Release : 2016
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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.

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 Book
Author : Anonim
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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.

NIPT in a Clinical Setting

NIPT in a Clinical Setting Book
Author : Carly Kenyon
Publisher : Unknown
Release : 2014
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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.

Experiences of Women Receiving Failed Non invasive Prenatal Testing NIPT Results

Experiences of Women Receiving Failed Non invasive Prenatal Testing  NIPT  Results Book
Author : Kady Murphy
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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 Diagnosis and Testing

Non invasive Prenatal Diagnosis and Testing Book
Author : Heather Strange
Publisher : Unknown
Release : 2015
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Non invasive Prenatal Diagnosis and Testing book written by Heather Strange, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Next Generation Sequencing for Non Invasive Prenatal Testing

Next Generation Sequencing for Non Invasive Prenatal Testing Book
Author : BCC Research
Publisher : Unknown
Release : 2018-08
ISBN : 9781622968466
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Next Generation Sequencing for Non Invasive Prenatal Testing book written by BCC Research, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Impact of Non invasive Prenatal Testing on Genetic Counselling Invasive Prenatal Diagnosis and Atypical Chromosomal Anomalies Detection

Impact of Non invasive Prenatal Testing on Genetic Counselling  Invasive Prenatal Diagnosis and Atypical Chromosomal Anomalies Detection Book
Author : 鄭靜恩
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Impact of Non invasive Prenatal Testing on Genetic Counselling Invasive Prenatal Diagnosis and Atypical Chromosomal Anomalies Detection book written by 鄭靜恩, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Novel Insights Into Preimplantation Genetic Testing for Aneuploidy and Non invasive Prenatal Testing

Novel Insights Into Preimplantation Genetic Testing for Aneuploidy and Non invasive Prenatal Testing Book
Author : Kathryn Denise Sanders
Publisher : Unknown
Release : 2020
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

Download Novel Insights Into Preimplantation Genetic Testing for Aneuploidy and Non invasive Prenatal Testing book written by Kathryn Denise Sanders, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Molecular Counting

Molecular Counting Book
Author : Anonim
Publisher : Stanford University
Release : 2010
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

The concept of a personal genome stems from the fact that every human genome is unique. Measuring the unique features of a personal genome would help uncover the genetic basis of diseases and traits, and would be increasingly important in clinical diagnosis especially with the growing emphasis on personalized medicine. This thesis focuses on exploring the power of molecular counting to develop novel strategies that address the inadequacy of existing technologies in measuring the unique features of a human genome. The first focus of the thesis is aneuploidy detection, which has major application in prenatal diagnosis. While karyotyping of fetal cells is well-established for detecting aneuploidy, invasive sampling of fetal materials impose a small but significant risk to the health of both the mother and the fetus. A major research focus in the field of prenatal diagnosis has been to develop a noninvasive test for detecting fetal aneuploidy. Here, the concept of single molecule counting was applied to the problem of aneuploidy detection. The concept was first tested with digital PCR on invasively collected fetal materials, and subsequently extended to the noninvasive setting by shotgun sequencing maternal plasma DNA, which contains a small amount of fetal DNA. The former work led to the development of a polymorphism-independent method for rapid invasive diagnosis of aneuploidy, while the later work marked the development of the first polymorphism-independent method for the noninvasive diagnosis of fetal aneuploidy documented in the literature. The second focus of the thesis is molecular haplotyping. Present sequencing and other molecular techniques concentrate at identifying variants at isolated locations throughout a genome but largely ignore the haplotypes formed by these variants. Direct experimental determination of the haplotypes of an individual is challenging because of the lack of techniques to separate the two highly similar homologous copies of a chromosome. Here, a whole-genome haplotyping method was devised by analyzing amplified materials from single intact chromosomes within single cells, made possible by microfluidics. Such strategy enabled, for the first time, completely deterministic measurement of personal whole-genome haplotypes. It sets the stage for the direct sequencing of the two unique haploid genomes of any individual human, which has not been achieved by any personal genomes sequenced to date, and can potentially facilitate noninvasive fetal genome sequencing.

Women s Decision Making Process Regarding Prenatal Diagnostic Testing

Women s Decision Making Process Regarding Prenatal Diagnostic Testing Book
Author : Marilena Tzafettas
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

GET BOOK

Book Description :

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.

Prenatal Diagnosis

Prenatal Diagnosis Book
Author : Brynn Levy
Publisher : Humana Press
Release : 2019-01-17
ISBN : 9781493988877
Language : En, Es, Fr & De

GET BOOK

Book Description :

This second edition volume expands on the first edition with more detailed methodologies on prenatal testing and diagnosis, and also covers next-generation sequencing techniques. The chapters in this book are divided into three sections: preimplantation genetic testing, traditional prenatal testing, and non-invasive prenatal testing. This book covers topics such as molecular testing for preimplantation genetic diagnosis of single gene disorders; DNA extraction from various types of prenatal specimens; prenatal diagnosis of cystic fibrosis and Tay-Sachs disease; chromosomal SNP microarrays; and isolation of cell-free DNA from maternal plasma. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Practical and thorough, Prenatal Diagnosis, Second Edition is a valuable resource for any researcher interested in reproducing these techniques in their clinical laboratories.