Description
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.
Chapter
Section One
General principles of medical genetics
General principles of medical genetics
Autosomal dominant inheritance
Autosomal recessive inheritance
X-linked recessive inheritance
Multifactorial (or part-genetic) disorders
Somatic cell (or cumulative) genetic disorders
Interpreting the family tree
Preimplantation genetic diagnosis (PGD)
Cell-free fetal DNA testing
Referral for genetic assessment and counselling
Section Two
Common genetic problems in obstetric and gynaecological practice
Common genetic problems in obstetric and gynaecological practice
Genetic causes of infertility
Genetic causes of recurrent miscarriages
Elevated maternal screening risk
Duchenne muscular dystrophy
Section Three
Clinical case scenarios
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 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 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 1. Guide to online sources of genetic information
Online Mendelian Inheritance in Man (OMIM)
http://www.ncbi.nlm.nih.gov/pubmed
Directory of UK Genetics Centres
http://www.bsgm.org.uk/information-education/genetics-centres
UK Genetic Testing Network (UKGTN)
http://www.ukgtn.nhs.uk/gtn/Home
Human Fertilisation and Embryology Authority (HFEA)
http://www.cafamily.org.uk/medical-information/conditions/
http://www.geneticalliance.org.uk
UNIQUE (Rare Chromosome Disorder Support Group)
http://www.rarechromo.co.uk/html/home.asp
National Organization for Rare Disorders (NORD)
http://www.rarediseases.org/
Genetics Home Reference database
Medical Genetics for the MRCOG and Beyond
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