{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T14:28:37Z","timestamp":1759847317740},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,7,21]],"date-time":"2008-07-21T00:00:00Z","timestamp":1216598400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:p>Gaucher disease (GD) type 1 is the most frequent autosomal recessive disorder among Ashkenazi Jews, but because the phenotype is tremendously variable, including it in the \u2018Ashkenazi Panel\u2019 of carrier screening is controversial. As part of a nationwide study conducted in Israel to evaluate the outcomes of carrier screening for GD, we studied the experience of 65\/82 (79%) of the couples identified as being at risk for an affected child. We found that pre\u2010test information was regarded as insufficient and improved in post\u2010result counseling. About 70% of the subjects interpreted the genetic counseling as directive, mostly toward prenatal diagnosis (PND) but against pregnancy termination of affected fetuses. We evaluated the various motivations that had led couples to utilize PND. Subjects\u2019 attitudes toward pregnancy termination correlated with their specific genotypes, with their perception of the severity of GD and with attending additional medical consultation. Of the 30 interviewed participants who were faced with having an affected fetus, 80% came to terms with their decision to utilize PND, but about half of the few who terminated the pregnancy regret their decision. Despite questionable benefits of screening, most of the participants did not regret having been tested and supported the continuation of this program. We offer explanations for these findings and suggest extensive genetic and medical counseling for any future carrier screening for low penetrance, treatable disease.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01063.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:23:27Z","timestamp":1232706207000},"page":"566-570","source":"Crossref","is-referenced-by-count":11,"title":["Attitudes of couples identified through screening as carriers of Gaucher disease type 1"],"prefix":"10.1111","volume":"74","author":[{"given":"S","family":"Zuckerman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Lahad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Zimran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Levy\u2010Lahad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Sagi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,11,20]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014401"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J"},{"key":"e_1_2_6_4_2","first-page":"85","article-title":"Gaucher disease: gene frequencies in the Ashkenazi Jewish population","volume":"52","author":"Beutler E","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_2","first-page":"2641","volume-title":"The metabolic and molecular bases of inherited disease","author":"Beutler E","year":"1995"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1998.2.297"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.298.11.1281"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.278.15.1268"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.158.7.777"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000127267.57526.D1"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.275.7.548"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)32131-4"},{"key":"e_1_2_6_14_2","first-page":"107","article-title":"Large scale screening for Gaucher\u2019s disease in Israel \u2013 a position paper by the National Gaucher Committee of the Ministry of Health","volume":"133","author":"Zimran A","year":"1997","journal-title":"Harefuah"},{"key":"e_1_2_6_15_2","first-page":"19","volume-title":"Carrier screening for genetic diseases (position papers)","author":"Bach G","year":"2004"},{"key":"e_1_2_6_16_2","volume-title":"Registry of the Israel Ministry of Health","author":"Zlotogora J","year":"2003"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1515\/9781503620766"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<53::AID-AJMG11>3.0.CO;2-#"},{"key":"e_1_2_6_19_2","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1542\/peds.94.1.13","article-title":"Utilization of prenatal diagnosis for cystic fibrosis over the past seven years","volume":"941","author":"Jedlicka\u2010Kohler I","year":"1994","journal-title":"Pediatrics"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20047"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-005-0573-0"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2008.01063.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2008.01063.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T08:59:07Z","timestamp":1696928347000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2008.01063.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,20]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1111\/j.1399-0004.2008.01063.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01063.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,20]]}}}