Genetic Disorders and the Fetus —— Diagnosis, Prevention and Treatment

----- 遗传性疾病与胎儿：诊断、预防与治疗　第6版

ISBN: 9781405190879 出版年：2011 页码：1,193 Aubrey Milunsky Jeff M Milunsky Wiley

The definitive reference work on prenatal diagnosis, Genetic Disorders and the Fetus is now available in a completely revised and updated fifth edition reflecting the most current advances in research, technology, and clinical care. Written by an international team of experts, the volume provides in-depth critical analysis of the latest work in prenatal diagnosis of genetic and other disorders. Topics include: fragile X syndrome, cystic fibrosis, neural tube defects, and hemoglobinopathies; the experience and techniques of amniocentesis, chorionic villus sampling, ultrasound, fetal blood sampling; abortion and fetal therapy; and medicolegal and ethical issues in prenatal diagnosis. The book describes the use of combined biochemical markers to screen for neural tube and chromosomal defects, presents the latest developments relating to testing fetal cells in the mother's blood, and reviews major advances in molecular genetics that permit prenatal carrier detection and presymptomatic and predictive testing. Much has changed since the publication of the fourth edition. The new technologies of fetal MRI, 3-D ultrasound, and real time PCR of fetal DNA in maternal circulation yield crucial information. While, integrated screening of data from the first and second trimesters coupled with ultrasound now produces a 94 percent detection rate. From reviews of the fourth edition: "The editor is to be congratulated on producing such a topical and full summary of current practice and future developments. This book would make a most useful addition to the libraries of both genetic and fetal medicine departments."--Journal of Medical Genetics "Perinatology and the care of the newborn are two of the most exciting fields of medicine and have been characterized by tremendous advances over the past three decades ...[This book] accurately reflects this progress and captures the excitement that characterizes these endeavors. Long considered a standard reference in the area of prenatal diagnosis, this text is notable for its breadth and continues to be a readable, well-organized, comprehensive resource for clinicians in fields related to the care of the fetus and newborn ...For those engaged in prenatal, perinatal, and neonatal diagnosis, this [edition] is recommended for your library. "--JAMA "One great strength of Milunsky's book is that these authoritative chapters ...succeed in imparting data, wisdom, and pitfalls clearly and concisely."--Human Genetics "It would provide an excellent teaching text for clinicians in training and a useful reference text for many scientists working on the laboratory side of prenatal genetic testing ...This text is a must for any obstetrics library shelf."--Journal of Obstetrics and Gynaecology.