Chromosome Anomalies And Prenatal Development
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Author | : Dorothy Warburton |
Publisher | : |
Total Pages | : 128 |
Release | : 1991 |
Genre | : Family & Relationships |
ISBN | : |
This atlas is intended for those interested in abnormal prenatal development in human beings and other mammals. This includes geneticists and developmental biologists, as well as those with a more applied interest, such as obstetricians, pediatricians, perinatologists, pediatric pathologists, toxicologist, and reproductive epidemiologists.
Author | : D. ... Warburton |
Publisher | : |
Total Pages | : 101 |
Release | : 1991 |
Genre | : |
ISBN | : |
Author | : Linda Ferrill Annis |
Publisher | : Cornell University Press |
Total Pages | : 204 |
Release | : 2019-06-30 |
Genre | : Health & Fitness |
ISBN | : 1501741055 |
This highly readable book is a concise and fascinating account of the nine months from conception to birth. It deals with prenatal development and learning, and discusses the effects of nutrition, maternal characteristics and experiences, drugs (including the "pill," aspirin, marijuana, and LSD), and diseases. Finally, it summarizes the most recent scientific advances that increase a baby's chances of being born normal.
Author | : Institute of Medicine |
Publisher | : National Academies Press |
Total Pages | : 270 |
Release | : 2003-10-27 |
Genre | : Medical |
ISBN | : 0309166837 |
Each year more than 4 million children are born with birth defects. This book highlights the unprecedented opportunity to improve the lives of children and families in developing countries by preventing some birth defects and reducing the consequences of others. A number of developing countries with more comprehensive health care systems are making significant progress in the prevention and care of birth defects. In many other developing countries, however, policymakers have limited knowledge of the negative impact of birth defects and are largely unaware of the affordable and effective interventions available to reduce the impact of certain conditions. Reducing Birth Defects: Meeting the Challenge in the Developing World includes descriptions of successful programs and presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth defects in developing countries. This study also recommends capacity building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries.
Author | : Fan Jin |
Publisher | : Frontiers Media SA |
Total Pages | : 117 |
Release | : 2020-06-22 |
Genre | : |
ISBN | : 2889637395 |
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.
Author | : Karen Sermon |
Publisher | : Cambridge University Press |
Total Pages | : 217 |
Release | : 2014-04-10 |
Genre | : Medical |
ISBN | : 1107683580 |
This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.
Author | : T.V.N. Persaud |
Publisher | : Springer Science & Business Media |
Total Pages | : 257 |
Release | : 2012-12-06 |
Genre | : Science |
ISBN | : 9401166692 |
Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.
Author | : Rajendra K. Diwakar |
Publisher | : Springer |
Total Pages | : 161 |
Release | : 2017-12-29 |
Genre | : Medical |
ISBN | : 9811048738 |
This book offers an essential guide for postgraduates, obstetricians and gynaecologists (including teaching faculty), helping them develop workflows for the early detection and assessment of high-risk pregnancies & pregnancy with IUGR using colour Doppler applications and transfontenellar cranial sonography in premature new-borns during routine ultrasonography. This book familiarizes practicing radiologists and Ob-Gyn specialists with this aspect of sonography, so as to improve perinatal outcomes.
Author | : Aubrey Milunsky |
Publisher | : Springer Science & Business Media |
Total Pages | : 718 |
Release | : 2012-12-06 |
Genre | : Medical |
ISBN | : 1468434381 |
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.
Author | : Dagmar K. Kalousek |
Publisher | : Springer Science & Business Media |
Total Pages | : 245 |
Release | : 2013-03-09 |
Genre | : Medical |
ISBN | : 1475721110 |
This book is designed primarily for anatomic pathologists to facilitate their task of accurately diagnosing embryos and fetuses. A detailed examination of the products of spontaneous and induced abortions is necessary for accurate genetic counseling and for establishing the risk for specific abnormalities or another spontaneous pregnancy loss in the future. The growing interest in the defects of early development reflects the profound change in general life-style. In the past, spontaneous abortions were considered a common, usually sporadic event in a patient's reproductive history. Only reassurance and encour agement were given to the patient and scant attention was paid to the detailed pathology of the abortus. Nowadays, however, as a result of reliable methods of contraception and of the availability of reliable prenatal diagnosis for chromosome abnormalities more frequent in advanced maternal age, significant numbers of parents plan to have pregnan cies later in their reproductive life. Consequently, in a case of spontaneous abortion, the question of "cause" and of "future risk" of recurrence of abortion or an abnormal infant is particularly important. In the era of more elaborate and accurate prenatal diagnostic tests, the pathologist examining products of conception has a primary responsibility to detect, in both spontaneous and induced abortions, any developmental abnormality that would indicate an increased risk of multifactorial, chromosomal, and single gene disorders in a subsequent child.