{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T06:56:54Z","timestamp":1698303414119},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":6332,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the results and follow\u2010up of chorionic villus studies in 1,034 pregnancies at risk for chromosome or metabolic disorders. Direct chromosome studies were successful in 99.7% and yielded results within a few days. Fifty pregnancies at risk for an unbalanced translocation, inherited from parents with many small reciprocal translocations, were a good test for the quality of the direct method.<\/jats:p><jats:p>The 101 metabolic studies involving 28 disorders were correct in 99 pregnancies in the first trimester. In two cases a correct diagnosis was obtained by the confirmatory amniocentesis.<\/jats:p><jats:p>DNA studies were carried out in pregnancies of male fetuses at risk for Duchenne muscular dystrophy and a few metabolic disorders.<\/jats:p><jats:p>The abortion rate after chorionic villus sampling was 5.1 % but more than half of the pregnant women were \u226536 years old and have a spontaneous abortion rate of 10% between the 10th and 14th week according to Gustavii [Lancet 1:562, 1984]. Follow\u2010up studies confirmed results of all chromosome studies after termination when there was fetal cell growth; the outcome of 504 consecutive continuing pregnancies showed no discrepancies of the phenotype after birth.<\/jats:p><jats:p>It was concluded that first\u2010trimester chorionic villi studies gave reliable results and were increasingly preferred by the patients, while the sampling can be considered a safe procedure based on the currently available data.<\/jats:p>","DOI":"10.1002\/ajmg.1320290208","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:12:18Z","timestamp":1118545938000},"page":"293-303","source":"Crossref","is-referenced-by-count":36,"title":["Impact of first\u2010trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk. Experience with 1,000 cases"],"prefix":"10.1002","volume":"29","author":[{"given":"E. S.","family":"Sachs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. G. J.","family":"Jahoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. J.","family":"Kleijer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Pijpers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Galjaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","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":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00292671"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)91325-X"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291660"},{"key":"e_1_2_1_5_1","volume-title":"Chorionic Villus Sampling","author":"Galjaard H","year":"1986"},{"key":"e_1_2_1_5_2","first-page":"131","volume":"21","journal-title":"Clin Biochem Anal"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(84)90955-3"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(86)90707-6"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)90867-0"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6867735"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)90961-3"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-70707-0_19"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(78)90177-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274761"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-70707-0_21"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291878"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-70707-0_50"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320290208","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320290208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T04:41:08Z","timestamp":1695789668000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320290208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,2]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1988,2]]}},"alternative-id":["10.1002\/ajmg.1320290208"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320290208","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,2]]}}}