Article
Fragile X syndrome carrier screening in the prenatal genetic counseling setting.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2005
Cronister Amy, DiMaio Miriam, Mahoney Maurice J, Donnenfeld Alan E, Hallam Stephanie
Abstract excerpt
PURPOSE: To document our experience with fragile X carrier screening. METHODS: In this study, 29,103 women with no known or suspected family history of fragile X syndrome were offered fragile X carrier screening during their prenatal genetic counseling visit. Screening acceptance was analyzed by referral indication, carrier frequencies documented, and prenatal outcome data presented. RESULTS: Overall, 7.9%...
Topics
- Age Factors
- Blotting, Southern
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Frequency
- Genetic Counseling
- Genetic Testing
- Humans
- Logistic Models
- Maternal Exposure
- Mutation
- Nerve Tissue Proteins
- Patient Acceptance of Health Care
- Polymerase Chain Reaction
- RNA-Binding Proteins
- Trinucleotide Repeat Expansion