Cover -- Contents -- Abbreviations -- Glossary -- Preface -- Section One: General principles of medical genetics -- Introduction -- Normal human inheritance -- Types of genetic disease -- Chromosomal disorders -- Single-gene disorders -- AUTOSOMAL DOMINANT INHERITANCE -- AUTOSOMAL RECESSIVE INHERITANCE -- X-LINKED RECESSIVE INHERITANCE -- Multifactorial (or part-genetic) disorders -- Somatic cell (or cumulative) genetic disorders -- Drawing the family tree -- Interpreting the family tree -- DNA analysis -- Chromosome analysis -- Referral for genetic assessment and counselling -- Section Two: Common genetic problems in obstetric and gynaecological practice -- Introduction -- Genetic causes of infertility -- Genetic causes of recurrent miscarriages -- Elevated maternal screening risk -- DOWN SYNDROME -- NEURAL TUBE DEFECT -- CYSTIC FIBROSIS -- Family history -- DOWN SYNDROME -- NEURAL TUBE DEFECT -- CYSTIC FIBROSIS -- MUSCULAR DYSTROPHY -- LEARNING DIFFICULTIES -- CONGENITAL MALFORMATIONS -- OVARIAN CANCER -- Section Three: Clinical case scenarios -- Introduction -- Case 1: Unexpected finding at amniocentesis -- SITUATION -- CLINICAL RESPONSE -- Case 2: Lethal short-limbed skeletal dysplasia -- SITUATION -- CLINICAL RESPONSE -- Case 3: Family history of Down syndrome -- SITUATION -- CLINICAL RESPONSE -- Case 4: Family history of Huntington's disease -- SITUATION -- CLINICAL RESPONSE -- Case 5: Family history of Duchenne muscular dystrophy -- SITUATION -- CLINICAL RESPONSE -- Case 6: Unexplained high level of maternal serum alphafetoprotein -- SITUATION -- Clinical response -- Case 7: Family history of siblings with Goldenhar syndrome -- SITUATION -- CLINICAL RESPONSE -- Case 8: Family history of microcephaly -- SITUATION -- CLINICAL RESPONSE -- Case 9: Unexpected finding at amniocentesis -- SITUATION -- CLINICAL RESPONSE.

Case 10: Family history of Down syndrome -- SITUATION -- CLINICAL RESPONSE -- Case 11: Importance of genetic ancestry -- SITUATION -- CLINICAL RESPONSE -- Case 12: Never say never -- SITUATION -- CLINICAL RESPONSE. -- Case 13: Unexpected finding at amniocentesis -- SITUATION -- CLINICAL RESPONSE -- Case 14: Inherited limb abnormality -- SITUATION -- CLINICAL RESPONSE -- Case 15: Multiple congenital abnormalities -- SITUATION -- CLINICAL RESPONSE -- Case 16: Family history of cystic fibrosis -- SITUATION -- CLINICAL RESPONSE -- Case 17: Previous obstetric history of trisomy 13 -- SITUATION -- CLINICAL RESPONSE -- Case 18: Previous obstetric history of hydrocephalus -- SITUATION -- CLINICAL RESPONSE -- Case 19: Maternal congenital heart disease -- SITUATION -- CLINICAL RESPONSE -- Case 20: Family history of problems -- SITUATION -- CLINICAL RESPONSE -- Case 21: Unexpected finding at amniocentesis -- SITUATION -- CLINICAL RESPONSE -- Case 22: Previous obstetric history of a fetus with multiple congenital malformations -- SITUATION -- CLINICAL RESPONSE -- Case 23: Accidental X-ray in early pregnancy -- SITUATION -- CLINICAL RESPONSE -- Case 24: Genetic mimicry -- SITUATION -- CLINICAL RESPONSE -- Case 25: Previous obstetric history of an intrauterine death with cystic hygroma -- SITUATION -- CLINICAL RESPONSE -- Appendix 1. Sources of genetic information -- Further reading -- Index.