期刊
PRENATAL DIAGNOSIS
卷 27, 期 11, 页码 991-994出版社
WILEY
DOI: 10.1002/pd.1815
关键词
fragile X syndrome; screening for fragile X syndrome; prenatal diagnosis of fragile X syndrome; CGG repeat number in the FMR1 gene; premutation of fragile X; FM of fragile X syndrome
Objectives To determine the carrier frequency of fragile X syndrome, and the rate of expansion from premutation (PM) carrier to full mutation (FM) fetus. Methods Results were analyzed on women with no family history of fragile X syndrome, or who were PM/FM carriers, who were tested between January 1994 and June 2004. PM was defined 55-199 repeats, FM above 200. Results Out of 40 079 women screened, 5 FM and 255 PM carriers were detected. There was no significant difference in carrier frequency between those with versus those without family history of mental retardation or developmental abnormalities: I in 128 (28/3596) versus I in 157 (232/36483). However, the median of repeats differed significantly: 58 and 66 repeats, respectively, (P < 0.0001). Invasive prenatal diagnosis was carried out in 370 pregnancies (7 FM and 363 PM). Thirty FM fetuses were detected. There was a lower expansion rate in cases without a family history: 10% (17/169 PMs) compared to 50% (11/22 PMs) in those with a history, but this could be accounted for by the difference in allele size. I AA AA Conclusion There is now sufficient information on screening parameters and prenatal diagnosis of fragile X syndrome to offer testing to women of reproductive age. Copyright (c) 2007 John Wiley & Sons, Ltd.
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