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Genet Med. 2006 Feb;8(2):129-33.

Attitudes toward prenatal screening and testing for Fragile X.

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Department of Pediatrics, Dartmouth Medical School, Lebanon, New Hampshire 03756, USA.



Currently, the American Colleges of Medical Genetics and Obstetrics and Gynecology recommend screening in the prenatal setting only for individuals with specific family history indicators. Our aims were to study patient attitudes and psychologic impact of offering widespread screening for Fragile X in a prenatal setting.


Participants were recruited from pregnant women referred for "Prenatal Diagnosis Options" counseling by their primary provider in the first trimester of pregnancy.


Pretest knowledge about Fragile X was limited; 33% had heard of Fragile X syndrome before enrollment. Postcounseling knowledge was similarly limited; only 30% accurately understood the 50% risk for girls. Participants were strongly in favor of being tested or screened, and did not experience undue anxiety related to Fragile X testing. Respondents hoped that knowledge of Fragile X in the general population would increase, and recommended that screening be offered during routine prenatal care.


Fragile X screening in this setting was a favorable testing experience for the participants. Limited pretest knowledge and posttest retention of specific genetic information on Fragile X suggest that widespread screening will pose significant counseling and educational challenges, which should be addressed in such programs.

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