{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:56:31Z","timestamp":1783356991427,"version":"3.54.6"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2007,8,17]],"date-time":"2007-08-17T00:00:00Z","timestamp":1187308800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To determine the carrier frequency of fragile X syndrome, and the rate of expansion from premutation (PM) carrier to full mutation (FM) fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><jats:p>PM was defined 55\u2013199 repeats, FM above 200.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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: 1 in 128 (28\/3596) versus 1 in 157 (232\/36 483). However, the median of repeats differed significantly: 58 and 66 repeats, respectively, (<jats:italic>P<\/jats:italic> &lt; 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>There is now sufficient information on screening parameters and prenatal diagnosis of fragile X syndrome to offer testing to women of reproductive age. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1815","type":"journal-article","created":{"date-parts":[[2007,8,17]],"date-time":"2007-08-17T17:20:44Z","timestamp":1187371244000},"page":"991-994","source":"Crossref","is-referenced-by-count":72,"title":["Preconceptional and prenatal screening for fragile X syndrome: Experience with 40 000 tests"],"prefix":"10.1002","volume":"27","author":[{"given":"Michal","family":"Berkenstadt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liat","family":"Ries\u2010Levavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard","family":"Cuckle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Peleg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gad","family":"Barkai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,8,17]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/acprof:oso\/9780192628268.003.0001"},{"issue":"4","key":"e_1_2_1_3_1","first-page":"A49","article-title":"Increased transmission of the premutated allele compared to the normal allele in female carriers of the fragile X syndrome","volume":"65","author":"Drasinover V","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1089\/10906570050501524"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.2165\/00066982-200005030-00002"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/096914139700400204"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1177\/096914139700400403","article-title":"Screening for fragile X","volume":"4","author":"Murray J","year":"1997","journal-title":"J Med Screen"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/367713"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610103.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200008)20:8<611::AID-PD881>3.0.CO;2-M"},{"key":"e_1_2_1_12_1","first-page":"1006","article-title":"Prevalence of carriers of premutation\u2010size alleles of the FMR1 gene and implications for the population \u2010genetics of the fragile\u2010X syndrome","volume":"57","author":"Rousseau F","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200285"},{"key":"e_1_2_1_14_1","volume-title":"Molecular Cloning\u2013A Laboratory Manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<256::AID-AJMG4>3.0.CO;2-S"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510442"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","unstructured":"SongFJ BartonP SleightholmeV YaoGL Fry\u2010SmithA.2002.Screening for Fragile X Syndrome: a Literature Review and Modelling. Health Tech Asses West Midland HTA group University of Birmingham.","DOI":"10.3310\/hta7160"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.3310\/hta7160"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/321974"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.586"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1815","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1815","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T00:35:43Z","timestamp":1700008543000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1815"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,17]]},"references-count":19,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1002\/pd.1815"],"URL":"https:\/\/doi.org\/10.1002\/pd.1815","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,17]]}}}