Genetic Consultations in the Newborn: Robin D. Clark and Cynthia J. Curry (eds)
This first edition of the handbook ‘Genetic Consultations in the New-born’, ably edited by two eminent Clinical geneticists, is a part of series of specialist handbooks published by Oxford University Press with the aim to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management.
This book is divided into various parts that includes newborn conditions related to growth abnormalities in addition to system specific abnormalities requiring syndromic delineation. It has 42 chapters with 19 commonly diagnosed genetic neonatal conditions. Each chapter starts with a clinical consult with patient picture that makes it more intriguing and generates interest in the readers. This is then followed by a brief information about the condition, discussion about the relevant differential diagnosis and evaluation and the management in a concise manner. Addition of relevant genetic information and related genetic testing makes it comprehensive. For additional and updated information, unique MIM number (online database Mendelian Inheritance in Man), links and references have also been provided. The text is appropriately supplemented by illustrative clinical pictures that are helpful for imbibing the information for the beginners. Another highlight of the book is incorporation of useful practical ‘pearls’ for various conditions. Probably, inclusion of inborn errors of metabolism protocols could have made it a thorough reference for neonatologists.
Overall, it is a useful resource for practising neonatologists and the pediatricians requiring a genetic consultation for the care of infants with common congenital malformations and related genetic syndromes. I recommend this book as a quick reference for initiating a genetic workup especially in areas that do not have access to the clinical genetics expertise. However, this book is not a substitute for a genetic consultation by an experienced clinical geneticist.