{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:08:09Z","timestamp":1791234489442,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,13]],"date-time":"2020-04-13T00:00:00Z","timestamp":1586736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The Israeli population, encompassing 9 million citizens, is comprised of diverse communities. The Ministry of Health genetic screening program for reproductive purposes was introduced in 2013. This program is mainly aimed at severe incurable diseases with high rates of infant and childhood morbidity and\/or mortality, with a carrier frequency of at least 1:60 and\/or a disease frequency of 1 in 15\u00a0000 live births. In this paper, we present the results of the national genetic carrier\u2010screening program implementation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>Data acquisition for this study was performed by retrospectively searching Ministry of Health database, which includes the reports of 18 genetic laboratories performing genetic screening tests.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>During 2015\u20102017, a total of 919\u00a0820 carrier\u2010screening genetic tests were executed. The overall number rose by 14.9% over these years. For about two\u2010thirds of the presented disorders, carrier frequency was within the expected range. A decrease of 57% was noted in the observed number of patients with spinal muscular atrophy born during 2014\u20102017, compared with the expected rate. Familial dysautonomia, Canavan and Tay\u2010Sachs diseases yielded a very low prevalence.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our results highlight the impact of a national genetic carrier\u2010screening program. Couples at risk of an affected fetus mostly choose to perform preconception or prenatal diagnosis and to act accordingly. Our country has several characteristics enabling us to achieve this success, including considerable rates of endogamy and consanguineous marriages, increased frequency of founder mutations, and high fertility rates. In addition, wide accessibility of the tests and good compliance of the population must be noted. Still, raising the awareness and continuing education of population and caregivers about the importance and efficiency of carrier screening remains an important issue. Finally, expanding the existing tests into a uniform, wide genetic panel seems to be the next goal.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aogs.13858","type":"journal-article","created":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T15:31:14Z","timestamp":1585927874000},"page":"802-808","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Impact of a national genetic carrier\u2010screening program for reproductive purposes"],"prefix":"10.1111","volume":"99","author":[{"given":"Amihood","family":"Singer","sequence":"first","affiliation":[{"name":"Community Genetics Public Health Services Ministry of Health Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0883-2130","authenticated-orcid":false,"given":"Lena","family":"Sagi\u2010Dain","sequence":"additional","affiliation":[{"name":"Genetics Institute Carmel Medical Center Ruth and Bruce Rappaport Faculty of Medicine Technion \u2013 Israel Institute of Technology Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,13]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"Statistical abstracts Cbos Jerusalem Israel. Available online at:https:\/\/old.cbs.gov.il\/reader\/newhodaot\/hodaa_template_eng.html?hodaa=201911134(assessed September 19 2019)."},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13231"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470214"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.4084\/mjhid.2014.012"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.241"},{"key":"e_1_2_9_7_1","unstructured":"Ministry of Health homepage. Available online at:https:\/\/www.health.gov.il\/PublicationsFiles\/genetic\u2010tests\u2010prog\u2010first\u2010year.pdf(assessed September 18 2019)."},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.73"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.socscimed.2004.02.016"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(01)44087-9"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajhb.22610"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33537"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/0301446032000159255"},{"key":"e_1_2_9_14_1","unstructured":"OECD.Fertility rates (indicator).2019.https:\/\/data.oecd.org\/pop\/fertility\u2010rates.htm(accessed on 24 September 2019)."},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-017-0100-z"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.113"},{"key":"e_1_2_9_17_1","first-page":"538","article-title":"Compliance for genetic screening in the Arab population in Israel","volume":"14","author":"Sukenik\u2010Halevy R","year":"2012","journal-title":"Isr Med Assoc J"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2015.08.007"}],"container-title":["Acta Obstetricia et Gynecologica Scandinavica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Faogs.13858","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aogs.13858","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/aogs.13858","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/aogs.13858","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T10:40:01Z","timestamp":1693996801000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1111\/aogs.13858"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,13]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["10.1111\/aogs.13858"],"URL":"https:\/\/doi.org\/10.1111\/aogs.13858","archive":["Portico"],"relation":{},"ISSN":["0001-6349","1600-0412"],"issn-type":[{"value":"0001-6349","type":"print"},{"value":"1600-0412","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,13]]},"assertion":[{"value":"2019-10-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}