Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies
| Autor: | Markku Ryynänen, Elisa Kajanoja, Minna Makkonen, Kirkinen Pertti, Arto Mannermaa, Seppo Heinonen |
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| Rok vydání: | 1999 |
| Předmět: |
Health Knowledge
Attitudes Practice Fragile x medicine.medical_specialty Down syndrome Genetic counseling Nerve Tissue Proteins Fragile X Mental Retardation Protein Pregnancy Intellectual Disability Prenatal Diagnosis Genetics medicine Humans Genetic Testing Genetics (clinical) business.industry Obstetrics RNA-Binding Proteins medicine.disease FMR1 Fmr1 gene Fragile X syndrome Fragile X Syndrome Mutation Mutation (genetic algorithm) Feasibility Studies Female Observational study business |
| Zdroj: | European Journal of Human Genetics. 7:212-216 |
| ISSN: | 1476-5438 1018-4813 |
| DOI: | 10.1038/sj.ejhg.5200285 |
| Popis: | 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 December 1996, a carrier test was offered at the Kuopio City Health Centre free of charge to all pregnant women in the first trimester following counselling given by midwives on fragile X syndrome. All women found to be carriers of FMR1 gene mutations underwent detailed genetic counselling and were offered prenatal testing. Attitudes towards the gene test were elicited by questionnaire. Most pregnant women (85%) elected to undertake the gene test. Six women were found to be carriers (a rate of 1 in 246), and all subsequently accepted prenatal testing. Three foetuses had a normal FMR1 gene, one had a large premutation, one a 'size mosaic' mutation pattern, and another a full mutation. This observational and interventional study demonstrates that antenatal screening provides an effective way of identifying carriers and incorporating prenatal testing into this process. |
| Databáze: | OpenAIRE |
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