By Markus Stumm
Der Wunsch aller werdenden Eltern ist ein gesundes Kind. Doch ungefähr 5 % aller neugeborenen Kinder in Deutschland zeigen eine oder mehrere angeborene Fehlbildungen oder Störungen. Diese sind die zweithäufigste Todesursache im Säuglingsalter und die häufigste Todesursache im Kindesalter. Die Pränataldiagnostik kann dabei helfen, diese Fälle zu erkennen und ermöglicht damit den betroffenen Eltern wichtige Handlungsoptionen. In diesem Fachbuch werden zunächst die rechtlichen Regelungen zur Pränataldiagnostik kurz dargestellt. Das Kapitel “Ultraschalldiagnostik” führt die aktuellen Verfahren der bildgebenden pränatalen Diagnostik sowie deren Möglichkeiten und Grenzen auf. Die Möglichkeiten der invasiven Eingriffe und der genetischen Diagnostik werden im Kapitel “Invasive Methoden und genetische Diagnostik” beschrieben. Eine aktuelle Zusammenfassung zu nichtinvasiven pränatalen Testverfahren aus mütterlichem Blut findet sich im Kapitel “Nichtinvasive molekulargenetische Untersuchungen”. Den Abschluss bildet ein Ausblick auf “Zukünftige Entwicklungen in der genetischen Diagnostik”.

Product Details

• Publisher ‏ : ‎ UNI-MED; 1st edition (18 July 2017)
• Language ‏ : ‎ German
• ISBN-10 ‏ : ‎ 3837415473
• ISBN-13 ‏ : ‎ 978-3837415476

Introduction

The desire for all expectant parents is to have a healthy child. However, approximately 5% of all newborns in Germany exhibit one or more congenital malformations or disorders. These are the second leading cause of infant mortality and the most common cause of death in childhood. Prenatal diagnosis can help identify these cases and provide affected parents with important options for action.

In the book “Pränataldiagnostik“, author Markus Stumm examines the various aspects of prenatal diagnosis. The book begins by discussing the legal regulations surrounding prenatal diagnosis. It then covers the current procedures and limitations of imaging prenatal diagnostics in the chapter “Ultraschalldiagnostik”. The possibilities of invasive procedures and genetic diagnostics are described in the chapter “Invasive Methoden und genetische Diagnostik”. Additionally, there is a chapter titled “Nichtinvasive molekulargenetische Untersuchungen” that provides an up-to-date summary of non-invasive prenatal testing methods using maternal blood. The book concludes with a look into “Zukünftige Entwicklungen in der genetischen Diagnostik” (Future Developments in Genetic Diagnostics).

Review

Markus Stumm’s book “Pränataldiagnostik” provides a comprehensive overview of prenatal diagnosis, covering both the legal aspects and the various diagnostic methods available. The author’s expertise in the field is evident throughout the book, making it a trustworthy resource for medical professionals and expectant parents alike.

The chapter on ultrasound diagnostics is particularly informative, detailing the current imaging techniques used in prenatal diagnostics. It not only explains the possibilities of ultrasound diagnosis but also highlights its limitations, providing a realistic view of what can be achieved through this method. The inclusion of visual aids such as images and diagrams further enhances the understanding of the topic.

The section on invasive methods and genetic diagnostics is also well-written and covers a range of important topics. It explores the different invasive procedures available, such as amniocentesis and chorionic villus sampling, and discusses their respective benefits and risks. The chapter also delves into genetic diagnostic techniques, shedding light on the advances in this field and their impact on prenatal diagnosis.

The chapter on non-invasive molecular genetic testing from maternal blood is a valuable addition to the book, as it provides the readers with an understanding of the latest developments in this area. This section discusses the advantages and limitations of these tests, helping expectant parents make informed decisions about whether to pursue this type of testing.

The final chapter, “Zukünftige Entwicklungen in der genetischen Diagnostik,” offers a glimpse into the future of genetic diagnostics. It explores emerging technologies and concepts that hold promise for improving prenatal diagnosis in the years to come.

Ordering Information

If you are an expectant parent or a medical professional interested in learning more about prenatal diagnosis, “Pränataldiagnostik” is a must-read. It provides a comprehensive and up-to-date overview of the field, offering valuable insights and guidance for those facing the challenges of prenatal diagnosis.

The book is available in German language and published by UNI-MED, with the first edition released on July 18, 2017. The ISBN-10 is 3837415473, and the ISBN-13 is 978-3837415476. To order your copy of “Pränataldiagnostik“, visit your favorite bookstore or online retailers.

Order your copy today and gain the knowledge you need to navigate the world of prenatal diagnosis with confidence and clarity.