A five-year experience with fragile X screening of high-risk gravid women.
OBJECTIVE
We sought to compare our 5-year program of fragile X screening of high-risk gravid women with our program of fragile X testing of affected individuals (probands).


METHODS
All women referred to the prenatal genetics clinic from 1994 to 1998 who had a family history of unspecified mental retardation or learning or behavioral disorders (known fragile X families excluded) were offered fragile X screening. Results were compared with those of probands with the same diagnoses who underwent fragile X testing during the same time period.


RESULTS
We counseled 12,349 prenatal patients from 1994-1998, of whom 263 (2.1%) had a positive family history and underwent fragile X screening. No mutations or premutations were identified. In contrast, 31 (1.9%) of 1637 affected probands who underwent fragile X testing during the same time period had positive results, which was a significant difference (0/263 vs 31/1637; P <.05).


CONCLUSIONS
Testing the affected proband is superior to screening the pregnant relative of the proband for identification of families at risk for fragile X syndrome.
Wenstrom
K D
KD
Center for Obstetric Research, Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, Alabama, USA.
Descartes
M
M
Franklin
J
J
Cliver
S P
SP
D044383:Black People; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D044465:White People