Biomaterial Database

The quality of genetic counselling in osteogenesis imperfecta. 1981

C R Paterson, and E Mowat

A survey is reported of the genetic advice given to 272 families with osteogenesis imperfecta. An appreciable number of families were not given advice by anyone even though they had asked for it, and only one quarter of the families had been referred to a clinical genetic specialist. Overall approximately one third of the information recollected as having been received was incorrect but genetic specialists were clearly more successful than other doctors.

UI	MeSH Term	Description	Entries
D010013	Osteogenesis Imperfecta	COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.	Fragilitas Ossium,Lobstein Disease,Brittle Bone Disease,Lobstein's Disease,Osteogenesis Imperfecta Tarda,Osteogenesis Imperfecta with Blue Sclerae,Osteogenesis Imperfecta, Type 1,Osteogenesis Imperfecta, Type I,Disease, Lobstein,Disease, Lobstein's,Lobsteins Disease,Ossiums, Fragilitas,Osteogenesis Imperfecta Tardas
D011787	Quality of Health Care	The levels of excellence which characterize the health service or health care provided based on accepted standards of quality.	Pharmacy Audit,Quality of Care,Quality of Healthcare,Audit, Pharmacy,Care Quality,Health Care Quality,Healthcare Quality,Pharmacy Audits
D005817	Genetic Counseling	An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.	Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006113	United Kingdom	Country in northwestern Europe including Great Britain and the northern one-sixth of the island of Ireland, located between the North Sea and north Atlantic Ocean. The capital is London.	Great Britain,Isle of Man
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012306	Risk	The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.	Relative Risk,Relative Risks,Risk, Relative,Risks,Risks, Relative