{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:16:25Z","timestamp":1762521385315},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,8,18]],"date-time":"2010-08-18T00:00:00Z","timestamp":1282089600000},"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":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Although prenatal diagnosis and genotyping are available for Gaucher disease, genetic counseling for an affected child's parents reflects the inability to predict disease course with certainty. The purpose of this survey is to ascertain disease status of children identified by prenatal screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All carrier couples for glucocerebrosidase mutations who were counseled at our large Gaucher Clinic were included; none had genotyped the fetus. Medical status of children was assessed by questionnaires and data were collected from clinic charts and\/or telephone contact with the parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of 34 children born, 1 died <jats:italic>in utero<\/jats:italic>, 5 fetuses (N370S\/N370S) aborted. Of 21 genotyped N370S\/N370S, 7 children had Gaucher\u2010like symptoms\/signs but for only one child (two symptoms) were these ascribable to Gaucher disease; four children had non\u2010Gaucher symptoms\/signs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Of 21 children whose parents pursued prenatal counseling for Gaucher disease and were found to have the N370S\/N370S genotype, none has presented with severe disease with follow\u2010up of 15 years. The Israeli experience shows that Gaucher disease N370S screening does not identify children requiring treatment, but rather leads to termination of asymptomatic fetuses; this may lead to reconsideration of guidelines regarding Gaucher screening. Copyright \u00a9 2010 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.2584","type":"journal-article","created":{"date-parts":[[2010,8,18]],"date-time":"2010-08-18T13:14:50Z","timestamp":1282137290000},"page":"924-927","source":"Crossref","is-referenced-by-count":12,"title":["Sixteen years of prenatal consultations for the N370S\/N370S Gaucher disease genotype: What have we learned?"],"prefix":"10.1002","volume":"30","author":[{"given":"Yael","family":"Eitan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayala","family":"Abrahamov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mici","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah","family":"Elstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ari","family":"Zimran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1998.2.297"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199105233242104"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.23.10544"},{"key":"e_1_2_6_5_1","first-page":"3635","volume-title":"Gaucher Disease","author":"Beutler E","year":"2001"},{"key":"e_1_2_6_6_1","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_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302946"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1080\/15227950500405296"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31815f247c"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900076"},{"key":"e_1_2_6_11_1","first-page":"2091","volume-title":"Hypersplenism, Splenic trauma and Splenectomy","author":"Kliegman RM","year":"2007"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10728-006-0035-3"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0950-3536(97)80040-6"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.07.015"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21362"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3269"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970151219"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01063.x"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.2584","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.2584","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.2584","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:34:46Z","timestamp":1697636086000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.2584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,18]]},"references-count":17,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1002\/pd.2584"],"URL":"https:\/\/doi.org\/10.1002\/pd.2584","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,18]]}}}