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Noninvasive Prenatal Testing

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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

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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

Non Invasive Prenatal Testing

Non Invasive Prenatal Testing Book
Author : Stephanie Telesca,Sarah Lawrence College. Human Genetics
Publisher : Unknown
Release : 2013
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Non Invasive Prenatal Testing book written by Stephanie Telesca,Sarah Lawrence College. Human Genetics, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Jacobsen Syndrome Detected by Noninvasive Prenatal Testing

Jacobsen Syndrome Detected by Noninvasive Prenatal Testing Book
Author : Anonim
Publisher : Unknown
Release : 2015
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Abstract : BACKGROUND: Noninvasive prenatal testing has a high detection rate of common fetal chromosomal aneuploidies. However, detection of additional chromosome abnormalities has not been well described or validated. CASE: We report a case of Jacobsen syndrome, a congenital disorder involving deletion of chromosome 11q, detected by noninvasive prenatal testing at 14 weeks of gestation and confirmed on neonatal testing with array chromosomal genomic hybridization. CONCLUSION: Noninvasive prenatal testing should be considered when multiple fetal anomalies are present and invasive testing is declined. As the clinical application of noninvasive prenatal testing continues to evolve, additional submicroscopic chromosomal information may be clinically helpful and should be confirmed with diagnostic testing until larger studies help further define the screening characteristics of noninvasive prenatal testing. Abstract : Noninvasive prenatal testing should be considered when multiple fetal anomalies are present and invasive testing is declined.

Single Cell Omics

Single Cell Omics Book
Author : Debmalya Barh,Vasco Azevedo
Publisher : Academic Press
Release : 2019-07-31
ISBN : 012817532X
Language : En, Es, Fr & De

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Book Description :

Single-cell Omics, Volume 2: Advances in Applications provides the latest single-cell omics applications in the field of biomedicine. The advent of omics technologies have enabled us to identify the differences between cell types and subpopulations at the level of the genome, proteome, transcriptome, epigenome, and in several other fields of omics. The book is divided into two sections: the first is dedicated to biomedical applications, such as cell diagnostics, non-invasive prenatal testing (NIPT), circulating tumor cells, breast cancer, gliomas, nervous systems and autoimmune disorders, and more. The second focuses on cell omics in plants, discussing micro algal and single cell omics, and more. This book is a valuable source for bioinformaticians, molecular diagnostic researchers, clinicians and several members of biomedical field interested in understanding more about single-cell omics and its potential for research and diagnosis. Covers the diverse single cell omics applications in the biomedical field Summarizes the latest progress in single cell omics and discusses potential future developments for research and diagnosis Written by experts across the world, it brings different points-of-view and study cases to fully give a comprehensive overview of the topic

Clinical Experience of Laboratory Follow up with Noninvasive Prenatal Testing Using Cell free DNA and Positive Microdeletion Results in 349 Cases

Clinical Experience of Laboratory Follow   up with Noninvasive Prenatal Testing Using Cell   free DNA and Positive Microdeletion Results in 349 Cases Book
Author : Anonim
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Abstract: Objective: Screening via noninvasive prenatal testing (NIPT) involving the analysis of cell‐free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow‐up of positive NIPT screens for microdeletions. Methods: Patients that were screened positive by NIPT for a microdeletion involving 1p, 4p, 5p, 15q, or 22q who underwent diagnostic studies by either chorionic villus sampling or amniocentesis were evaluated. Results: The overall positive predictive value for 349 patients was 9.2%. When a microdeletion was confirmed, 39.3% of the cases had additional abnormal microarray findings. Unrelated abnormal microarray findings were detected in 11.8% of the patients in whom the screen positive microdeletion was not confirmed. Stretches of homozygosity in the microdeletion were frequently associated with a false positive cfDNA microdeletion result. Conclusions: Overall, this report reveals that while cfDNA analysis will screen for microdeletions, the positive predictive value is low; in our series it is 9.2%. Therefore, the patient should be counseled accordingly. Confirmatory diagnostic microarray studies are imperative because of the high percentage of false positives and the frequent additional abnormalities not delineated by cfDNA analysis. Abstract : What's already known about this topic? cfDNA is shown to be effective for prenatal detection of aneuploides. cfDNA has been used to detect microdeletions prenatally, but studies are limited. What does this study add? This is one of the largest follow‐up diagnostic studies to cfDNA detection of microdeletions. This manuscript provides clear evidence of the importance of follow‐up of cfDNA testing with diagnostic microarray analysis.

Genetic Disorders and the Fetus

Genetic Disorders and the Fetus Book
Author : Aubrey Milunsky,Jeff M. Milunsky
Publisher : John Wiley & Sons
Release : 2021-06-08
ISBN : 1119676932
Language : En, Es, Fr & De

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Book Description :

"The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"--

Bioethics and Public Health Law

Bioethics and Public Health Law Book
Author : Mary Anne Bobinski,David Orentlicher,I. Glenn Cohen,Mark A. Hall
Publisher : Aspen Publishers
Release : 2018-05-11
ISBN : 145489041X
Language : En, Es, Fr & De

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Book Description :

Financial and ethical issues are integrated into this concise and engaging treatment of Bioethics and Public Health Law. The complex relationship between patients, providers, the state, and public health institutions are explored through high-interest cases, informative notes, and compelling problems. The updated Fourth Edition includes recent cases and developments in biotechnology, including stem cell research and gene patents, and updates to HIPPA coverage, DNA research, and bio-banks. Discussions of confidentiality and informed consent include new legislative and judicial responses to posthumous reproduction and the challenges arising from international reproductive tourism.

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

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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.

A Pocket Guide to Clinical Midwifery

A Pocket Guide to Clinical Midwifery Book
Author : Lauren A. Dutton,Jessica E. Densmore,Meredith B. Turner
Publisher : Jones & Bartlett Learning
Release : 2019-04-12
ISBN : 1284152812
Language : En, Es, Fr & De

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Book Description :

A Pocket Guide to Clinical Midwifery: The Efficient Midwife, Second Edition is a must-have resource for midwives and women's health nurse practitioners.It features important concepts, diagnostic tools, algorithms, and management options, including conventional, lifestyle, and complementary therapies, all in one place.

Oxford Textbook of Obstetrics and Gynaecology

Oxford Textbook of Obstetrics and Gynaecology Book
Author : Sabaratnam Arulkumaran,William Ledger,Stergios Doumouchtsis,Lynette Denny
Publisher : Oxford University Press, USA
Release : 2019-12
ISBN : 019876636X
Language : En, Es, Fr & De

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Book Description :

The Oxford Textbook of Obstetrics and Gynaecology is an up-to-date, objective and readable text that covers the full speciality of Obstetrics and Gynaecology. This comprehensive and rigorously referenced textbook will be a vital resource in print and online for all practising clinicians. Edited by a team of four leading figures in the field, whose clinical and scientific backgrounds collectively cover the whole spectrum of Obstetrics and Gynaecology with particular expertise in fetomaternal medicine and obstetrics, gynaecological oncology, urogynaecology, and reproductive medicine, the textbook helps inform and promote evidence-based practice and improve clinical outcomes worldwide across all facets of the discipline. The editors are supported by contributors who are internationally renowned specialists and ensure high quality and global perspective to the work. Larger sections on the Basics in Obstetrics and Gynaecology, Fetomaternal medicine, Management of Labour, Gynaecological problems, Gynaecological oncology are complimented by specialist sections on areas such as Neonatal Care & Neonatal Problems, Reproductive medicine, and Urogynaecology and Pelvic Floor Disorders to name a few. The evidence-based presentation of current diagnostic and therapeutic methods is complemented in the text by numerous treatment algorithms, giving the reader the knowledge and tools needed for effective clinical practice. The Oxford Textbook of Obstetrics and Gynaecology is essential reading for specialist obstetricians and gynaecologists, subspecialists, and O&G trainees across the world.

Molecular Counting

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

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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.

Current Controversies in Prenatal Diagnosis 2 Cell free DNA Prenatal Screening Should be Used to Identify All Chromosome Abnormalities

Current Controversies in Prenatal Diagnosis 2  Cell   free DNA Prenatal Screening Should be Used to Identify All Chromosome Abnormalities Book
Author : Anonim
Publisher : Unknown
Release : 2018
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Abstract: Noninvasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) from maternal serum has been clinically available since 2011. This technology has revolutionized our ability to screen for the common aneuploidies trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. More recently, clinical laboratories have offered screening for other chromosome abnormalities including sex chromosome abnormalities and copy number variants (CNV) without little published data on the sensitivity, specificity, and positive predictive value. In this debate, the pros and cons of performing prenatal screening via cfDNA for all chromosome abnormalities is discussed. At the time of the debate in 2017, the general consensus was that the literature does not yet support using this technology to screen for all chromosome abnormalities and that education is key for both providers and the patients so that the decision‐making process is as informed as possible. Abstract : What is already known about this topic? Analysis of cfDNA obtained from maternal plasma, also known as noninvasive prenatal testing (NIPT) and noninvasive prenatal screening (NIPS), is currently a widely used screening test for the common aneuploidies: trisomy 21, trisomy 18, and trisomy 13. It is also used as a screening test for fetal sex and for sex chromosome aneuiploidy. The sensitivity, specificity, and PPV of cfDNA for these conditions are well described in the peer‐reviewed medical literature, but there is little evidence on performance when screening for other chromosomal anomalies. What does this study add? Screening for common CNVs allows for early detection and treatment as well as redirection of care and, while the PPV of cfDNA screening for CNVs is low, it is still better than that for many accepted screening tests such as mammography and Pap smear screening. There is a lack of understanding of the limitations of cfDNA screening for CNVs and other chromosomal anomalies compared with diagnostic testing, and the solution is "better education" rather than withholding the testing. However, most nonrecurrent and/or relatively small CNVs are not identified by the current clinically available cfDNA panels, the sensitivity is poor, and PPV is low resulting in a false sense of security that no CNV is present. The many false positives will contribute to increased invasive testing, high levels of parental anxiety, possibly unnecessary terminations of pregnancy, and increased health‐care costs There is a general agreement that education is key for both providers and patients so that the decision process is as informed as possible.

Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders Book
Author : Fan Jin,Yueqiu Tan,Evica Rajcan-Separovic,Peter C. K. Leung
Publisher : Frontiers Media SA
Release : 2020-06-22
ISBN : 2889637395
Language : En, Es, Fr & De

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Book Description :

Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic screening and diagnosis allow early identification of affected conceptuses and facilitates reproduction planning or counseling. Molecular technologies have developed rapidly in recent years and have been widely used in screening and diagnosis of genetic disorders at all stages of prenatal development (e.g. pre-implantation, embryonic and fetal). However, their performance still needs to be validated and assessed as the balance between their advantages and disadvantages need to be discussed. With the ability to detect copy number variations (CNVs), polyploidy, uniparental disomy and maternal cell contamination, SNP-based chromosomal microarray analysis (CMA) is showing the unique importance in diagnosing chromosomal abnormalities. The interpretation of CNVs remains a challenge; however, ultrasound and biochemical screening improve the diagnosis of fetal chromosomal abnormalities. Whole exome sequencing (WES) and whole genome sequencing (WGS) play increasingly significant roles in prenatal and carrier screening for genetic disorders. NGS-based non-invasive prenatal screening (NIPS) is now widely used for detecting common autosomal aneuploidies and has shown the potential of detecting microdeletions and microduplications. However, further investigations of the sensitivity and accuracy are required and large-scale data is necessary to evaluate the performance and clinical applications of current and new methods. Recently, reports of application of newer technologies in prenatal setting became available. Examples include third generation sequencing (reading the nucleotide sequences at the single molecule level), digital PCR (used for direct quantification of DNA) and cell-based NIPT. In the followed listed papers, the authors showed their successful experiences in identifying novel mutation, detecting low-level mosaicism or de novo mutations limited in germline cells, investigating the association of the CNVs with specific phenotypic alterations by using WES, CMA, digital PCR and some other new-developed molecular techniques. More interesting, the authors also presented a report about the evaluation of diagnostic yield in fetal WES, which suggested a new tendency to apply WES or WGS directly for prenatal diagnosis. We believed that the efficiency of scanning causative mutations and prenatal or preimplantion genetic diagnosis for genetic disorders will further improved based on the technologies of whole genomic sequencing with further improved output and resolution. New techniques, such as quick-WES for the newborn in intensive care unit, direct-WGS for prenatal diagnosis and non-invasive test for fetal monogenic disorders, will become available in the near future.

Perfecting Pregnancy

Perfecting Pregnancy Book
Author : Karpin/Savell,Kristin Savell
Publisher : Cambridge University Press
Release : 2012-03-30
ISBN : 052176520X
Language : En, Es, Fr & De

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Book Description :

Examines the legislative oversight in the regulation of prenatal and preimplantation testing technologies across a number of jurisdictions.

BMJ

BMJ Book
Author : Anonim
Publisher : Unknown
Release : 2009
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

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

Reproductive Genetics

Reproductive Genetics Book
Author : Sean Kehoe,Lyn Chitty,Tessa Homfray
Publisher : RCOG
Release : 2009-11
ISBN : 1906985162
Language : En, Es, Fr & De

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Book Description :

This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

Prenatal Testing

Prenatal Testing Book
Author : Aliza Kolker,B. Meredith Burke
Publisher : Praeger
Release : 1998
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Analyzes the social-psychological and ethical implications of invasive prenatal testing through interviews with genetic counselors and those who have been tested. Incorporates the most recent testing information in the new, updated afterword.

Circulating Nucleic Acids in Plasma serum III and Serum Proteomics

Circulating Nucleic Acids in Plasma serum III and Serum Proteomics Book
Author : Dave S. B. Hoon,Christine Alfsen-Norodom,Benjamin D. Lane,Bret Taback,Melody Corry
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Numerous questions remain regarding the origin, release, clearance, clinical utility, and possible functionality of circulating nucleic acids. Serum proteomics is introduced as a new topic to CNAPS and is expected to provide yet another platform for breakthrough discoveries. Serum proteomics topics will address both cancer and early pregnancy.

Reproductive Medicine Secrets

Reproductive Medicine Secrets Book
Author : Peter Tze Kin Chan,Marc Goldstein,Zev Rosenwaks
Publisher : Unknown
Release : 2004
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Reproductive Medicine Secrets covers all practical aspects of reproductive medicine with particular focus on the rapidly expanding field of assisted reproduction technology, male infertility evaluation and treatment. With the tremendous advances in assisted reproductive technology and management in male and female reproductive disorders witnessed in recent years, reproductive medicine is considered the most rapidly expanding field of medicine in this past decade. New concepts regarding various reproductive disorders have continued to evolve and treatment strategies continued to be developed. Complemented with the increasing awareness of the availability of such treatments, there is currently an enormous increase in the volume of patients demanding infertility evaluation and management. Hence physicians currently in practice or in training have an existing and urgent demand for state-of-the-art knowledge on reproductive medicine. Tables and bulleted lists for quick reference Controversial issues in reproductive technology Informative and explanatory figures Thought-provoking questions that provide succinct answers Presentation of a vast amount of information, but not overly simplistic All the most important "need-to-know" questions-and-answers in the proven format of the highly acclaimed Secrets Series® Bulleted lists, algorithms, and illustrations for quick review Thorough, highly detailed index