Noninvasive Prenatal Testing (NIPT)
Noninvasive Prenatal Testing (NIPT)

Author: Lieve Page-Christiaens

Publisher: Academic Press

Published: 2018-08-19

Total Pages: 408

ISBN-13: 0128141905

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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

NIPT in a Clinical Setting
NIPT in a Clinical Setting

Author: Carly Kenyon

Publisher:

Published: 2014

Total Pages: 42

ISBN-13:

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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.

Ghost Children
Ghost Children

Author: Sue Townsend

Publisher: Penguin UK

Published: 2003-05

Total Pages: 263

ISBN-13: 0141010827

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Seventeen years ago Angela Carr aborted an unwanted child. The father, Christopher Moore, was devastated by the loss and the couple went their separate ways. Years later, whilst walking his dog on the heath, a horrifying discovery compels Christopher to confront Angela about the past.

Mobilizing Mutations
Mobilizing Mutations

Author: Daniel Navon

Publisher: University of Chicago Press

Published: 2019-09-20

Total Pages: 409

ISBN-13: 022663809X

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With every passing year, more and more people learn that they or their young or unborn child carries a genetic mutation. But what does this mean for the way we understand a person? Today, genetic mutations are being used to diagnose novel conditions like the XYY, Fragile X, NGLY1 mutation, and 22q11.2 Deletion syndromes, carving out rich new categories of human disease and difference. Daniel Navon calls this form of categorization “genomic designation,” and in Mobilizing Mutations he shows how mutations, and the social factors that surround them, are reshaping human classification. Drawing on a wealth of fieldwork and historical material, Navon presents a sociological account of the ways genetic mutations have been mobilized and transformed in the sixty years since it became possible to see abnormal human genomes, providing a new vista onto the myriad ways contemporary genetic testing can transform people’s lives. Taking us inside these shifting worlds of research and advocacy over the last half century, Navon reveals the ways in which knowledge about genetic mutations can redefine what it means to be ill, different, and ultimately, human.

Cancer and Pregnancy
Cancer and Pregnancy

Author: A. Surbone

Publisher: Springer Science & Business Media

Published: 2007-11-09

Total Pages: 254

ISBN-13: 3540712747

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This book is written by experts with clinical expertise on diagnosis, treatment, and follow-up of women with cancer during pregnancy. It provides a comprehensive review of data and an overview of psychological, ethical, and social aspects. Chapters address the diagnosis, treatment, and follow-up of women with solid or hematologic cancers. The safety of subsequent pregnancy and the maintenance or enhancement of fertility in women undergoing cancer therapy are also addressed.

Prenatal Genetic Counseling
Prenatal Genetic Counseling

Author: Sam Riedijk

Publisher: Academic Press

Published: 2021-10-20

Total Pages: 228

ISBN-13: 0128233311

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Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT; invasive testing with microarray analysis or whole genome sequencing; ultrasound screening; and prenatal diagnosis for known hereditary conditions, among others. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning. Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students Covers use and psychological implications of technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis; exome sequencing; whole genome sequencing; and ultrasound screening and addresses diversity in prenatal genetic counseling Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ counseling experiences

The Public Life of the Fetal Sonogram
The Public Life of the Fetal Sonogram

Author: Janelle S. Taylor

Publisher: Rutgers University Press

Published: 2008

Total Pages: 224

ISBN-13: 0813543649

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In The Public Life of the Fetal Sonogram, medical anthropologist Janelle S. Taylor analyzes the full sociocultural context of ultrasound technology and imagery. This book offers much-needed critical awareness of the less easily recognized ways in which ultrasound technology is profoundly social and political in the United States today.

Prenatal Testing and Disability Rights
Prenatal Testing and Disability Rights

Author: Erik Parens

Publisher: Georgetown University Press

Published: 2000-09-28

Total Pages: 392

ISBN-13: 9781589013940

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As prenatal tests proliferate, the medical and broader communities perceive that such testing is a logical extension of good prenatal care—it helps parents have healthy babies. But prenatal tests have been criticized by the disability rights community, which contends that advances in science should be directed at improving their lives, not preventing them. Used primarily to decide to abort a fetus that would have been born with mental or physical impairments, prenatal tests arguably reinforce discrimination against and misconceptions about people with disabilities. In these essays, people on both sides of the issue engage in an honest and occasionally painful debate about prenatal testing and selective abortion. The contributors include both people who live with and people who theorize about disabilities, scholars from the social sciences and humanities, medical geneticists, genetic counselors, physicians, and lawyers. Although the essayists don't arrive at a consensus over the disability community's objections to prenatal testing and its consequences, they do offer recommendations for ameliorating some of the problems associated with the practice.

Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine
Handbook of New Genetic Diagnostic Technologies in Reproductive Medicine

Author: Carlos Simón

Publisher: CRC Press

Published: 2017-12-14

Total Pages: 272

ISBN-13: 1498763316

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Different genetic diagnostic and treatment options are used worldwide to improve routine IVF procedures for the benefit of patients. This handbook updates the new genetic diagnostic technologies that have been translated to practice aiming to improve outcomes in the clinic and have a healthy baby at home. Chapters cover the use of genetic technologies in a personalized manner to unravel the possible genetic risks for the couple wishing to conceive, in terms of sperm, the embryo, the endometrium, miscarriage, and finally the fetus.