Medical Genetics for the MRCOG and Beyond

Author: Connor, Michael J.

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  • ISBN: 9781900364997
  • Author: Connor, Michael J.
  • Publ Date: 2005-03-01
  • Edition:
  • Pages: 150
  • Imprint:
  • Status: ACT
  • ID - 70045

Table of Contents :

Section One: General principles of medical genetics. Introduction Normal human inheritance Types of genetic disease 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 risks Family history Section Three: 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 Huntingdon's disease Case 5: Family history of Duchenne muscular dystrophy Case 6: Unexplained high level of maternal serum alphafetoprotein 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 history of trisomy 13 Case 18: Previous obstetric history of hydrocephalus Case 19: Maternal congenital heart disease Case 20: Family history of problems Case 21: Unexpected findings at amniocentesis Case 22: Previous obstetric history of a fetus with multiple congential malformations Case 23: Accidental X-ray in early pregnancy Case 24: Genetic mimicry Case 25: Previous obstetric history on an intrauterine death with cystic hygroma. Appendix 1: Sources of genetic information


There is a long history of successful interaction between obstetrics and gynaecology and medical genetics. Initially, most applications related to obstetrics, especially with the use of prenatal diagnosis and prenatal screening but more recently the growth has been in applications related to gynaecology, especially in relation to gynaecological malignancies. Despite this long history there is a widespread misconception that genetics is a difficult subject to understand. This book aims to dispel this misconception. The first section covers basic principles and the second outlines the more common situations where obstetrics and gynaecology and medical genetics interact. The third section consists of real-life clinical case scenarios, which have been selected to represent typical problems and to highlight areas which if mismanaged could lead to medico-legal consequences. The book is essential reading for MRCOG candidates and any health professional needing a clear understanding of medical genetics and its uses in obstetrics and gynaecology.


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