Download or read book Prenatal Biochemical and Ultrasound Markers in Chromosomal Anomalies written by Eusebiu Vlad Gorduza and published by . This book was released on 2018 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Congenital Anomalies written by Stefania Tudorache and published by BoD – Books on Demand. This book was released on 2018-05-02 with total page 546 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nowadays, nobody can imagine practicing obstetrics without using obstetrical ultrasound. Working in the prenatal diagnosis field requires dedication, patience, skills, experience, caution, and empathy. The concept of this book was guided by the desire to provide some help to the ultrasound operators. On a daily basis, they are confronted with the challenging task of ruling out or suspecting/confirming the diagnosis of fetal anomalies, either structural or chromosomal. The chapters of this book contain objective and exhaustive updated reviews of the pertinent literature, so that the reader would have a wide reference basis on each subject. Yet, many authors scan the fetus themselves or are directly involved with managing pregnancies with structural malformations or chromosomal anomalies. They kindly shared their personal experience and lessons learned over the years. This book is beneficial for all the professionals working in the prenatal diagnosis.
Download or read book Screening for Down s Syndrome written by J. G. Grudzinskas and published by Cambridge University Press. This book was released on 1994-11-17 with total page 364 pages. Available in PDF, EPUB and Kindle. Book excerpt: This important new publication summarises the recent exciting advances in screening for Down's syndrome. It addresses important clinical questions such as: risk assessment, who to screen, when to screen, which techniques to use, and the organisation of screening programmes nationally and internationally. An international and authoritative team of authors has been invited to assess the latest developments in this rapidly advancing area. The volume provides a critical and much needed evaluation of the potential and limitations of new and established techniques for screening for Down's syndrome. It will serve as an essential source of information for all those involved in pre-natal diagnosis and the provision of obstetric care.
Download or read book Prenatal Screening and Diagnosis An Issue of Clinics in Laboratory Medicine written by Anthony O. Odibo and published by Elsevier Health Sciences. This book was released on 2010-08-11 with total page 270 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Handbook of Fetal Medicine written by Sailesh Kumar and published by Cambridge University Press. This book was released on 2010-07-01 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Fetal Medicine provides a concise and practical guide to the modern management of normal pregnancy and the at-risk fetus. Comprehensive in scope, in an easy-to-use format, the book provides guidance on a wide range of conditions, best practice management strategies and treatment options in maternal-fetal medicine. Each system-based chapter has a brief introduction on embryology and discusses the key genetic developments and relevant developmental abnormalities. The book begins by addressing genetic disorders such as Down syndrome, and goes on to consider skeletal and bodily system abnormalities. All key management points are highlighted and data on long-term outcomes are provided. This book will appeal to maternal-fetal medicine specialists, subspecialty trainees, obstetricians and midwives as a useful practical reference tool in daily practice. It is particularly suitable for trainees in Obstetrics & Gynaecology preparing for the post graduate examinations.
Download or read book Prenatal Screening and Diagnosis written by Anthony O. Odibo and published by Saunders. This book was released on 2010 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Ultrasound Markers for Fetal Chromosomal Defects written by K.H. Nicolaides and published by CRC Press. This book was released on 1995-11-15 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the most detailed, authoritative textbook available on the use of ultrasound markers in screening for fetal chromosomal defects. It describes in detail the methodology for calculating the risks for chromosomal defects using maternal age and gestational age as well as ultrasound findings. The authors explain how more than 90% of major chromosomal defects can be detected by combining data for fetal nuchal translucency thickness, fetal heart rate, maternal age, and maternal serum biochemistry at 10-14 weeks of gestation. The book is heavily referenced throughout and contains many illustrations and tables.
Download or read book Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders written by Fan Jin and published by Frontiers Media SA. This book was released on 2020-06-22 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Detection of Fetal Abnormalities Based on Three Dimensional Nuchal Translucency written by Khin Wee Lai and published by Springer Science & Business Media. This book was released on 2012-10-29 with total page 118 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ultrasound (US) prenatal screening has been proposed as the most effective technique for Trisomy 21 early assessment. Assessment of Nuchal Translucency (NT) offers promising non-invasive method for fetal abnormalities detection up to 75%. Nevertheless, current clinician practice of NT examination by locating the sonogram calipers on 2D US image requires highly trained and competent operators by adhering to a standard tedious protocol; therefore it is prone to errors and hence it decreases the reliability in intra- and inter-observer repeatability. This Brief provides the basic knowledge regarding Trisomy 21 diseases and its existing detection methods. The restrictions and disadvantages of each method are discussed accordingly. Therefore, a non-invasive early detection method using 3D ultrasound reconstruction of Nuchal Translucency is introduced. This new method for 3D NT assessments has an edge over the previous 2D methods, and entails the composite function in visualizing the explicit internal marker structure. Further, image processing techniques covered from data acquisition, pre-processing, speckle noise reduction and 3D segmentation are also discussed. This should be especially useful for students and professional researchers in the Biomedical and image processing fields.
Download or read book Textbook of Fetal Abnormalities written by Peter Twining and published by Elsevier Health Sciences. This book was released on 2007-01-01 with total page 627 pages. Available in PDF, EPUB and Kindle. Book excerpt: Updated to reflect the recent advances in this fast-changing field, this highly illustrated text examines the latest imaging modalities for prenatal diagnosis of fetal abnormalities. A team of leading authorities provides practical, step-by-step guidance on everything from detection and interpretation...to successful management approaches. Algorithms and management strategies throughout not only describe the features of abnormalities, but also show you how to arrive at a correct diagnosis through the use of color Doppler, 3-D ultrasound, and fetal MR. This 2nd Edition offers the essential practice-proven guidance you need to arrive at confident diagnoses in critical situations. It's a resource you'll turn to time and again! Includes more than 700 illustrations that clearly depict a full range of conditions. Focuses on image interpretation and, wherever possible, correlation of radiographic features with pathologic findings to provide the most accurate and reliable diagnosis possible. Uses a reader-friendly format to facilitate quick access to specific information. Includes new chapters reflecting major advances in magnetic resonance imaging and 3-D ultrasound. Presents an increased use of lists of differential diagnosis.
Download or read book Prenatal Screening of Aneuploidies written by Madhavilatha Routhu and published by . This book was released on 2022 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosomal abnormalities includes 1) abnormalities in number of chromosomes which are known as aneuploidies and 2) structural defects like translocations and deletions. In this we will discuss about Aneuploidies The incidence of Aneuploidy is around one in 200 live births. Aneuploidy increases with advancing maternal age. Fetal aneuploidy has been associated with significant pregnancy complications such as growth restriction, congenital malformations and perinatal deaths. Several Major developments are happened in prenatal screening of Aneuploidy especially the introduction of first trimester screen with Nuchal thickness and fetal cell free DNA in maternal plasma and identification of ultrasound markers and biochemical screening in second trimester. In this chapter we will discuss about what are trisomies, why ,ÄúDown syndrome,Äù is important to detect prenatally, history of ,ÄúDown syndrome,Äù, advances in screening methods biochemical as well as sonographic markers in first and second trimester and the criteria to get those markers. What are the features of trisomy 21, trisomy18 and trisomy13.
Download or read book Clinical Maternal Fetal Medicine written by Hung N. Winn and published by CRC Press. This book was released on 2021-09-01 with total page 855 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a comprehensive, one-stop online book relating to all areas of pregnancy and birth. The second edition of this easily searchable guide is edited by eminent experts in the field and includes new contributions from international authors. It will be an ideal reference for Maternal-Fetal Specialists and Generalists wanting an authoritative answer on any point. Key features: •Grouped in to six topics (modules) for convenience •Electronic search facility across all chapters •Approximately 700,000 words of text, 7000 references, 300 figures (including 100 in full colour), and 200 tables available to search Key topics: •All common pregnancy and birth related problems such as diabetes and pregnancy •Many rarer complications such as protozoan infections •Fetal assessment, which is absolutely central to MFM practice •Medico-legal aspects •Sickle cell disease – a major problem for patients of African descent New chapters include: •Recurrent early pregnancy losses •Invasive hemodynamic monitoring •Chronic and acute hypertension •Neurological disorders •Maternal obesity •Assessment of fetal genetic disorders •First and second trimester screening
Download or read book Pregnancy After Assisted Reproductive Technology written by Eric Jauniaux and published by Cambridge University Press. This book was released on 2012-09-06 with total page 211 pages. Available in PDF, EPUB and Kindle. Book excerpt: Practical, evidence-based guide to managing ART pregnancies, based on 30 years of clinical experience, including gynaecological, genetic and obstetric complications.
Download or read book Ultrasound Diagnosis of Fetal Anomalies written by Michael Entezami and published by Thieme. This book was released on 2011-01-01 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: Visual excellence combined with invaluable diagnostic guidelines Recent advances in ultrasound technology have dramatically advanced prenatal care, and its use is now standard. Medical professionals today can accurately detect fetal structural irregularities, and as a result, provide higher quality prenatal and postnatal patient care. This well-referenced teaching atlas is a comprehensive and practical overview of fetal ultrasound technology, providing up-to-date diagnosis and examination guidelines for the most clinically important anomalies and diseases. Incorporating an impressive collection of sonographic images and plates, the book provides an invaluable visual aid in recognizing even the most difficult-to-interpret ultrasound findings. Key features: Nearly 500 high-quality sonograms and images that illustrate frequent and rare fetal irregularities, including pathophysiologic disorders Tips for: avoiding common image misinterpretations; scanning techniques; and optimal times for ultrasound examinations Special chapters on chromosomal disorders and their soft markers, post-infectious malformations, and multiple pregnancies Unique design that allows quick and easy access to information Useful data and advice for concerned parents, including Internet resources and support groups No professional can afford to be without this up-to-date information. Incorporating the graphic strength of an atlas with the educational utility of a textbook, ULTRASOUND DIAGNOSIS OF FETAL ANOMALIES is essential for helping specialists to reliably identify prenatal irregularities and disease for the best results.
Download or read book Fetal Medicine written by Bidyut Kumar and published by Cambridge University Press. This book was released on 2016-04-07 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: Based on the RCOG Training Module in Fetal Medicine, this book provides a knowledge base for practitioners in obstetrics and maternal-fetal medicine.
Download or read book Noninvasive Prenatal Testing NIPT written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
