TY - JOUR
T1 - Preconceptional and prenatal screening for fragile X syndrome
T2 - Experience with 40 000 tests
AU - Berkenstadt, Michal
AU - Ries-Levavi, Liat
AU - Cuckle, Howard
AU - Peleg, Leah
AU - Barkai, Gad
PY - 2007/11
Y1 - 2007/11
N2 - 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 40079 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: 1 in 128 (28/3596) versus 1 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. Conclusion: There is now sufficient information on screening parameters and prenatal diagnosis of fragile X syndrome to offer testing to women of reproductive age.
AB - 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 40079 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: 1 in 128 (28/3596) versus 1 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. Conclusion: There is now sufficient information on screening parameters and prenatal diagnosis of fragile X syndrome to offer testing to women of reproductive age.
KW - CGG repeat number in the FMR1 gene
KW - FM of fragile X syndrome
KW - Fragile X syndrome
KW - Premutation of fragile X
KW - Prenatal diagnosis of fragile X syndrome
KW - Screening for fragile X syndrome
UR - http://www.scopus.com/inward/record.url?scp=36148980815&partnerID=8YFLogxK
U2 - 10.1002/pd.1815
DO - 10.1002/pd.1815
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AN - SCOPUS:36148980815
SN - 0197-3851
VL - 27
SP - 991
EP - 994
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 11
ER -