{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T11:44:50Z","timestamp":1698147890524},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,11,22]],"date-time":"2005-11-22T00:00:00Z","timestamp":1132617600000},"content-version":"vor","delay-in-days":4312,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1994,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11\u201312 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2\u00bd months. The parents were both known to be carriers of the \u0394F508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the \u0394F508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre\u2010eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.<\/jats:p>","DOI":"10.1002\/pd.1970140212","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T09:35:40Z","timestamp":1173000940000},"page":"149-152","source":"Crossref","is-referenced-by-count":1,"title":["Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination"],"prefix":"10.1002","volume":"14","author":[{"given":"Finn Stener","family":"J\u00f8rgensen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jens","family":"Bang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisbeth","family":"Tranebj\u00e6rg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lillian N.","family":"Berge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sturla H.","family":"Eik\u2010Nes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marianne","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,22]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03613.x"},{"key":"e_1_2_1_3_1","unstructured":"Bekker H. L. Marteau T. M. Modell M. M. Denniss G. Bobrow M.(1992). Uptake of cystic fibrosis carrier testing depends upon how the invitation is issued Proceedings No. WS12 XIth International Cystic Fibrosis Congress Dublin Ireland."},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83478-X"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2570460"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1988.tb10765.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2772657"},{"key":"e_1_2_1_8_1","first-page":"395","article-title":"Rapid nonradioactive detection of the major cystic fibrosis mutation","volume":"46","author":"Rommens J.","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970080809"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040302"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)92510-4"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/318384a0"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.2105\/AJPH.81.8.992"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970140212","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970140212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:05:30Z","timestamp":1698109530000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970140212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1994,2]]}},"alternative-id":["10.1002\/pd.1970140212"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970140212","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2]]}}}