{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T05:10:21Z","timestamp":1698037821695},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":6030,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal diagnosis were undertaken for the first time in a 17\u2010week gestation fetus at risk for the fragile X [fra (X)] syndrome. Metaphase spreads from 300 fetal lymphocytes were examined within 5 days following PUBS, while approximately 5 weeks were required for the analysis of 148 amniocytes. The chromosomes were interpreted as normal (46,XX) and the fetus as fragile X\u2010negative at the time of prenatal diagnosis. This was cytogenetically confirmed after delivery of a healthy term female infant. Our results suggest that early PUBS may become a useful adjunct to amniocentesis because of shorter culture time and earlier diagnosis.<\/jats:p>","DOI":"10.1002\/ajmg.1320310407","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:53:04Z","timestamp":1118537584000},"page":"775-778","source":"Crossref","is-referenced-by-count":2,"title":["The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis"],"prefix":"10.1002","volume":"31","author":[{"given":"Merlin G.","family":"Butler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaithilingam G.","family":"Dev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesh","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet E.","family":"Ulm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick L.","family":"Wilmot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence R.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9378(85)80254-4"},{"key":"e_1_2_1_3_1","first-page":"213","volume-title":"Chorionic Villus Sampling","author":"Jackson LG","year":"1986"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)91531-2"},{"key":"e_1_2_1_5_1","first-page":"A121","article-title":"Distribution and frequency of constitutive fragile sites","volume":"39","author":"Lele KP","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","first-page":"396","article-title":"Prenatal diagnosis with fetoscopy","volume":"31","author":"Nicolaides KH","year":"1984","journal-title":"Br J Hosp Med"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)92228-7"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198404001-00794"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90230-6"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)92227-5"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)92838-5"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970030210"},{"key":"e_1_2_1_13_1","first-page":"A269","article-title":"The value of folate sensitive fragile sites in detecting false negative fragile X prenatal cytogenetic results in amniotic fluid cell cultures","volume":"39","author":"Wilmot PL","year":"1986","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320310407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320310407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T20:35:39Z","timestamp":1698006939000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320310407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,12]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1988,12]]}},"alternative-id":["10.1002\/ajmg.1320310407"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320310407","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,12]]}}}