Article
Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.
European journal of human genetics : EJHG - 1 Jan 2000
Ryynänen M, Heinonen S, Makkonen M, Kajanoja E, Mannermaa A, Pertti K
Abstract excerpt
Fragile X syndrome is the second leading cause of mental retardation after Down syndrome. Most women carriers of the fragile X mutation are unaware of their condition. We critically evaluated whether screening pregnant women at low risk for FMR1 mutation would be feasible as a routine part of antenatal care in general practice. We also studied acceptance and attitudes to gene testing. From July 1995 until...
Topics
- Feasibility Studies
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Health Knowledge, Attitudes, Practice
- Humans
- Intellectual Disability
- Mutation
- Nerve Tissue Proteins
