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% accepted carrier screening. The premutation frequency was 1 in 382, and the intermediate allele frequency was 1 in 143. CONCLUSIONS: Fragile X screening is a desirable option for some women seeking prenatal genetic counseling and should be made available to this population.
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% accepted carrier screening. The premutation frequency was 1 in 382, and the intermediate allele frequency was 1 in 143. CONCLUSIONS:Fragile X screening is a desirable option for some women seeking prenatal genetic counseling and should be made available to this population.
Authors: Marsha Mailick Seltzer; Mei Wang Baker; Jinkuk Hong; Matthew Maenner; Jan Greenberg; Daniel Mandel Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2012-05-22 Impact factor: 3.568
Authors: Sarah L Nolin; Sachin Sah; Anne Glicksman; Stephanie L Sherman; Emily Allen; Elizabeth Berry-Kravis; Flora Tassone; Carolyn Yrigollen; Amy Cronister; Marcia Jodah; Nicole Ersalesi; Carl Dobkin; W Ted Brown; Raghav Shroff; Gary J Latham; Andrew G Hadd Journal: Am J Med Genet A Date: 2013-02-26 Impact factor: 2.802
Authors: Randi J Hagerman; Elizabeth Berry-Kravis; Walter E Kaufmann; Michele Y Ono; Nicole Tartaglia; Ave Lachiewicz; Rebecca Kronk; Carol Delahunty; David Hessl; Jeannie Visootsak; Jonathan Picker; Louise Gane; Michael Tranfaglia Journal: Pediatrics Date: 2009-01 Impact factor: 7.124