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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.

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