Screening For Foetal Chromosomal Abnormalities
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Screening For Foetal Chromosomal Abnormalities
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Author : Sics Editore
language : en
Publisher: SICS Editore
Release Date : 2014-10-01
Screening For Foetal Chromosomal Abnormalities written by Sics Editore and has been published by SICS Editore this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-10-01 with Medical categories.
Each pregnancy carries a small risk of foetal chromosomal abnormalities. The incidence of trisomy 21, which causes Down's syndrome, is less than 1/1000 if the mother is below 30 years of age, and more than 1/100 if the mother is over 40 years of age. Older pregnant women (35–40 years of age) should be offered chorionic villus sampling or amniocentesis to screen for chromosomal abnormalities. Down’s syndrome and other chromosomal abnormalities can be screened in women in any age based on age, serum markers or minor abnormalities of the foetus discovered by ultrasonography. One possible strategy for screening of chromosomal abnormalities is to use combined screening in early pregnancy (serum markers at 8–11 weeks of gestation and measurement of nuchal translucency as a part of routine ultrasound examination at week 10–12) or alternatively with maternal serum triple screening at week 14 or 15. Remember that screening is voluntary and a pregnant woman can choose whether she wants foetal diagnostic studies after she has been given information on the reliability, risks, timing of the studies and the reporting methods.
Prenatal Screening And Diagnosis An Issue Of Clinics In Laboratory Medicine E Book
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Author : Anthony O. Odibo
language : en
Publisher: Elsevier Health Sciences
Release Date : 2010-08-11
Prenatal Screening And Diagnosis An Issue Of Clinics In Laboratory Medicine E Book written by Anthony O. Odibo and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-08-11 with Medical categories.
This issue of Clinics in Laboratory Medicine, Guest Edited by Anthony Odibo and David Krantz, will feature article topics such as: Screening for Chromosomal abnormalities; Cystic fibrosis screening; The role of second-trimester screening, in the post-first trimester screening era; Modifying risk for Aneuploidy with second-trimester ultrasound after a positive serum screen; Cost-effectiveness of Down syndrome screening paradigms; Biochemical and biophysical screening for the risk of Preterm delivery; Pre-implantation genetic diagnosis; Prenatal testing for infectious disease, Thrombophilias, Preeclampsia, Neural Tube Defects; Management of Multiple Pregnancy; Genetic Counseling Issues in Down syndrome Screening; First Trimester Ultrasound Markers; Quality Control of Nuchal Translucency; Clinical Implications of First Trimester Screening; Adverse Pregnancy Outcomes after Positive Screening; First Trimester Combined Screening: Instant Risks Approach.
Prenatal Screening And Diagnosis An Issue Of The Clinics In Laboratory Medicine E Book
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Author : Anthony O. Odibo
language : en
Publisher: Elsevier Health Sciences
Release Date : 2016-06-11
Prenatal Screening And Diagnosis An Issue Of The Clinics In Laboratory Medicine E Book written by Anthony O. Odibo and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-11 with Medical categories.
This issue of Clinics in Laboratory Medicine, edited by Drs. Anthony Odibo and David A. Krantz, covers issues surrounding Prenatal Screening and Diagnosis. Topics examined in this issue include, but are not limited to: Strategies for Implementing cfDNA Testing; Genetic Counselling for Patients Considering Screening and Diagnosis of Chromosomal Abnormalities; Microdeletions/Duplications; Sex Chromosome Abnormalities; First-, Second- and Third-Trimester Screening for Preeclampsia and Intrauterine Growth Restriction; Biophysicial/Biochemical Screening for the Risk of Preterm Labor; Preimplantation Genetic Testing; Toxoplasmosis, Parvovirus and Cytomegalovirus in Pregnancy; and Sleep Apnea and Adverse pregnancy Outcomes.
Prenatal Screening And Diagnosis
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Author : Anthony O. Odibo
language : en
Publisher: Saunders
Release Date : 2010
Prenatal Screening And Diagnosis written by Anthony O. Odibo and has been published by Saunders this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010 with Medical categories.
This issue of Clinics in Laboratory Medicine, Guest Edited by Anthony Odibo and David Krantz, will feature article topics such as: Screening for Chromosomal abnormalities; Cystic fibrosis screening; The role of second-trimester screening, in the post-first trimester screening era; Modifying risk for Aneuploidy with second-trimester ultrasound after a positive serum screen; Cost-effectiveness of Down syndrome screening paradigms; Biochemical and biophysical screening for the risk of Preterm delivery; Pre-implantation genetic diagnosis; Prenatal testing for infectious disease, Thrombophilias, Preeclampsia, Neural Tube Defects; Management of Multiple Pregnancy; Genetic Counseling Issues in Down syndrome Screening; First Trimester Ultrasound Markers; Quality Control of Nuchal Translucency; Clinical Implications of First Trimester Screening; Adverse Pregnancy Outcomes after Positive Screening; First Trimester Combined Screening: Instant Risks Approach.
Screening And Diagnosis Of Fetal Malformation
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Author : A.K. Debdas
language : en
Publisher: BI Publications Pvt Ltd
Release Date : 2004
Screening And Diagnosis Of Fetal Malformation written by A.K. Debdas and has been published by BI Publications Pvt Ltd this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Fetus categories.
This book is the first one of its kind published in India?a comprehensive practical package for diagnosing fetal anomaly, covering methods right from the simple clinical clues to the molecular level of genes.
New Possibilities In First Trimester Prenatal Screening For Fetal Chromosomal Abnormalities
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Author : Gail H. Javitt
language : en
Publisher:
Release Date : 2004
New Possibilities In First Trimester Prenatal Screening For Fetal Chromosomal Abnormalities written by Gail H. Javitt and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Chromosome abnormalities categories.
Technologies For Prenatal Diagnosis And Assessment Of Genetic Disorders
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Author : Fan Jin
language : en
Publisher: Frontiers Media SA
Release Date : 2020-06-22
Technologies For Prenatal Diagnosis And Assessment Of Genetic Disorders written by Fan Jin and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-22 with categories.
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.
Noninvasive Prenatal Testing Nipt
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Author : Lieve Page-Christiaens
language : en
Publisher: Academic Press
Release Date : 2018-08-19
Noninvasive Prenatal Testing Nipt written by Lieve Page-Christiaens and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-08-19 with Medical categories.
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
Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2015-09-21
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-21 with Medical categories.
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
Genetic Disorders And The Fetus
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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2011-09-07
Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-09-07 with Medical categories.
Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on: The use of chromosomal microarrays in prenatal diagnosis The social, legal and public policy issues with special reference to international approaches The important peroxisomal and related fatty acid oxidation disorders Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.