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

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

Author: Lieve Page-Christiaens

Publisher: Academic Press

Published: 2018-08-25

Total Pages: 0

ISBN-13: 9780128141892

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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.

Prenatal Diagnostic Testing for Genetic Disorders
Prenatal Diagnostic Testing for Genetic Disorders

Author: Gian Carlo Di Renzo

Publisher: Springer Nature

Published: 2023-07-21

Total Pages: 455

ISBN-13: 3031317580

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This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis.

Prenatal Diagnosis
Prenatal Diagnosis

Author: Brynn Levy

Publisher: Humana

Published: 2018-12-01

Total Pages: 0

ISBN-13: 9781493988877

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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.

Textbook of Assisted Reproduction
Textbook of Assisted Reproduction

Author: Gautam Nand Allahbadia

Publisher: Springer Nature

Published: 2020-08-05

Total Pages: 846

ISBN-13: 9811523770

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Groundbreaking, comprehensive, and developed by a panel of leading international experts in the field, Textbook of Assisted Reproduction provides a multidisciplinary overview of the diagnosis and management of infertility, which affects 15% of all couples around the world. The book aims to cover all aspects of assisted reproduction. Particular attention is given to topics such as the assessment of infertile couples; assisted reproductive techniques (ARTs) including ovulation induction, intra uterine insemination (IUI), in vitro fertilization (IVF) and intracytoplasmic sperm injection (clinical and laboratory aspects); reproductive genetics; and obstetric and perinatal outcomes.

Human Reproductive and Prenatal Genetics
Human Reproductive and Prenatal Genetics

Author: Peter C.K. Leung

Publisher: Elsevier

Published: 2023-03-22

Total Pages: 930

ISBN-13: 0323913814

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Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine

Prenatal Diagnosis and Screening
Prenatal Diagnosis and Screening

Author: D. J. H. Brock

Publisher:

Published: 1992

Total Pages: 824

ISBN-13:

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Prenatal diagnosis is the most important and fast moving area in obstetrics. This important new title is intended to become the definitive international book on the subject. Features: * Strong editorial team - offering a combination of geneticist and obstetrician * Both editors are of renowned international standing * Expert contributors from the UK, USA, Europe and Australia * Final chapter will summarise the major developments in the field - cross-referenced to and from the relevant chapters * Current, in-depth coverage of prenatal diagnosis