Medical Genetics for the MRCOG and Beyond

by Edward S. Tobias, J. Michael Connor

Overview

This second edition has been comprehensively updated to reflect current clinical practice and the latest technical developments, including pre-implantation genetic diagnosis, array CGH, QF-PCR, non-invasive prenatal diagnosis and next generation sequencing amongst others. The first section covers basic principles, while the second outlines the more common situations where obstetrics and gynaecology interact with medical genetics. The third section contains real-life clinical case scenarios which have been selected to represent typical problems and to highlight areas which, if mismanaged, could have serious medico-legal consequences. Together with its accompanying website (www.essentialmedgen.com), it provides an invaluable guide to the use and selection of useful online genetic resources. This book is essential reading for candidates preparing for the MRCOG postgraduate examination, and any health professionals requiring a clear understanding of medical genetics and its increasingly frequent uses in obstetrics and gynaecology, where incorrect genetic advice can have serious consequences.

Product Details

ISBN-13:	9781139862639
Publisher:	Cambridge University Press
Publication date:	03/20/2014
Sold by:	Barnes & Noble
Format:	eBook
File size:	17 MB
Note:	This product may take a few minutes to download.

About the Author

Edward S. Tobias is Professor of Genetic Medicine (Medical Genetics), School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, and Honorary Consultant in Medical Genetics, West of Scotland Genetic Services, Southern General Hospital, Glasgow, UK.
J. Michael Connor (recently retired) was formerly Professor of Medical Genetics, School of Medicine, University of Glasgow, and Director of the West of Scotland Regional Genetics Service of the Institute of Medical Genetics in Glasgow.

Table of Contents

Abbreviations; Glossary; Preface; Part I. General Principles of Medical Genetics: Introduction; Normal human inheritance; Types of genetic disease; Chromosomal disorders; Single-gene disorders; Multifactorial (or part-genetic) disorders; Somatic cell (or cumulative) genetic disorders; Drawing the family tree; Interpreting the family tree; DNA analysis; Chromosome analysis; Preimplantation genetic diagnosis (PGD); Cell-free fetal DNA testing; Referral for genetic assessment and counselling; Part II. Common Genetic Problems in Obstetric and Gynaecological Practice: Introduction; Genetic causes of infertility; Genetic causes of recurrent miscarriages; Elevated maternal screening risk; Cystic fibrosis; Family history; Reference; Part III. Clinical Case Scenarios: Introduction; Case 1. Unexpected finding at amniocentesis; Case 2. Lethal short-limbed skeletal dysplasia; Case 3. Family history of Down syndrome; Case 4. Family history of Huntington disease; Case 5. Family history of Duchenne muscular dystrophy; Case 6. Unexplained high level of maternal serum alphafetoprotein (MSAFP); Case 7. Family history of siblings with Goldenhar syndrome; Case 8. Family history of microcephaly; Case 9. Unexpected finding at amniocentesis; Case 10. Family history of Down syndrome; Case 11. Importance of genetic ancestry; Case 12. Never say never; Case 13. Unexpected finding at amniocentesis; Case 14. Inherited limb abnormality; Case 15. Multiple congenital abnormalities; Case 16. Family history of cystic fibrosis; Case 17. Previous obstetric history of trisomy 13; Case 18. Previous obstetric history of hydrocephalus; Case 19. Maternal congenital heart disease; Case 20. Family history of neonatal myotonic dystrophy; Case 21. Unexpected finding at amniocentesis; Case 22. Previous obstetric history of a fetus with multiple congenital malformations; Case 23. Accidental X-ray in early pregnancy; Case 24. Genetic mimicry; Case 25. Previous obstetric history of an intrauterine death with cystic hygroma; Case 26. Where possible verify the diagnosis; Case 27. Beware of variable expressivity; Case 28. Provision of patient-appropriate literature for rare conditions; Case 29. Searching for online sources of specialist information regarding rare genetic conditions; Appendix. Guide to online sources of genetic information; Clinical information; Patient support groups; Further reading; Index.

Editorial Reviews

Reviewer: Anthony Shanks, MD (Indiana University School of Medicine)
Description: This brief introduction to medical genetics for U.K. physicians provides the basics for practitioners.
Purpose: It is intended as a brief overview of common genetic issues. Basics regarding karyotypes and even how they look under the microscope are covered. Inheritance patterns are also evaluated and clinical case scenarios are provided. The book has ambitious objectives, and does a good job meeting them.
Audience: It can be used by residents and practicing physicians.
Features: The book begins by covering the general principles of genetics. It spends ample time covering the basics of karyotypes. The initial images depicting inheritance patterns are a little difficult to decipher but later pictures featuring standard karyotypes are better. Pictures add to the topic but there is an overabundance of early images, as opposed to adult phenotypes — some adult pictures would be useful for clinicians. The cases at the end are well done and perhaps the entire book should have been presented this way. There is a lack of references throughout.
Assessment: This is a good introduction to the topic. It is geared to residents and practicing physicians, though the former would benefit more from it. It is very basic and more illustrations would have enhanced the presentation. Despite the lack of references, the material is sound.

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"The book has ambitious objectives, and does a good job meeting them."
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