Be prepared for prenatal diagnosis

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Aubrey MilunskyJeff Milunsky

Genetic Disorders and the Fetus – Diagnosis, Prevention, And Treatment, 7th edition

Edited by: ISBN: 978-1-118-98152-8 Published by: Wiley Blackwell: 2015 Price: £200.00/€240.00 (Hardcover), £180.99/€216.99 (E-book)

As the previous editions, this is an incredibly useful volume. The editors have engaged multiple experts on specific topics, as well as provided the latest and most up-to-date information and discussions without leaving out broad topics, such as genetic counseling, medical/legal aspects, and ethical issues. Each chapter has useful figures and tables, including some lovely colored illustrations. Specific conditions are well covered, either by a chapter or under specific techniques. Non-invasive, prenatal screening using cell-free fetal DNA is well covered; however, the newer aspects of maternal physiology are not yet covered. The problem of fetal mosaicism is dealt with in many chapters, but not as an issue itself. A broad variety of fetal therapies, from infection to metabolic disease and structural abnormalities, are also covered as various topics and in two excellent chapters on medical therapy and fetal surgery.

Much has been learned about the molecular development of the placenta in the last decade. As the genetic pathways are luminated in the next decade, one can anticipate potential new therapies not yet imagined. Perhaps the most dramatic change since the last edition in 2010 is the wealth of molecular studies and the availability of whole genome sequencing for unusual situations.

The chapter on molecular genetics carefully outlines various considerations, the importance of reporting ‘incidental’ results, and how important epigenetics will be in the future. My only disappointment, because of a personal interest, is that fetal movement is not discussed. The importance of studying fetal movement for the diagnosis of arthrogryposis is not covered, nor is the observation of fetal behavior, which is a growing field of interest. Cross-referencing between chapters could also be helpful in the next edition.

In summary, this is a superb book, both a reference and a resource. It is clearly an essential book for anyone involved in prenatal diagnosis, and for those who want to learn more about it. It is hard to be critical of such a wonderful resource.

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Correspondence to Judith G Hall.

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