{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T02:35:38Z","timestamp":1777430138486,"version":"3.51.4"},"reference-count":47,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,6,13]],"date-time":"2014-06-13T00:00:00Z","timestamp":1402617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2015,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Internationally, <jats:styled-content style=\"fixed-case\">T<\/jats:styled-content>ay\u2010<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>achs disease (<jats:styled-content style=\"fixed-case\">TSD<\/jats:styled-content>) preconception screening of <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>shkenazi <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>ewish (<jats:styled-content style=\"fixed-case\">AJ<\/jats:styled-content>) individuals and couples has led to effective primary prevention of <jats:styled-content style=\"fixed-case\">TSD<\/jats:styled-content>. In <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ustralia, adolescent preconception genetic screening programs operate mainly in <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>ewish community high schools. These existing programs offer an effective means of primary prevention of <jats:styled-content style=\"fixed-case\">TSD<\/jats:styled-content>, are cost effective and safe. However, in the broader <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ustralian community <jats:styled-content style=\"fixed-case\">TSD<\/jats:styled-content> screening is not systematically performed and cases still occur in unscreened <jats:styled-content style=\"fixed-case\">AJ<\/jats:styled-content> individuals. In order to improve the effectiveness of <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ustralian screening, there is a need for definitive guidelines for healthcare professionals to facilitate extension of the proven benefits of preconception <jats:styled-content style=\"fixed-case\">TSD<\/jats:styled-content> screening to all <jats:styled-content style=\"fixed-case\">AJ<\/jats:styled-content> individuals at risk. We performed a systematic review of the relevant literature relating to <jats:styled-content style=\"fixed-case\">AJ<\/jats:styled-content> pre\u2010conception and antenatal screening for <jats:styled-content style=\"fixed-case\">TSD<\/jats:styled-content>. The evidence was assessed using an established <jats:styled-content style=\"fixed-case\">N<\/jats:styled-content>ational <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>ealth and <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>edical <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>esearch <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>ouncil evidence grading system. Evaluations of efficacy of <jats:styled-content style=\"fixed-case\">TSD<\/jats:styled-content> screening programs design and execution, cost\u2010benefit and cost\u2010utility health economic evaluation, and population outcomes were undertaken. The results have been used to propose a model for universal <jats:styled-content style=\"fixed-case\">AJ TSD<\/jats:styled-content> preconception and antenatal screening for the primary care setting.<\/jats:p>","DOI":"10.1111\/jpc.12632","type":"journal-article","created":{"date-parts":[[2014,6,13]],"date-time":"2014-06-13T07:48:14Z","timestamp":1402645694000},"page":"271-279","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["<scp>A<\/scp>shkenazi <scp>J<\/scp>ewish population screening for <scp>T<\/scp>ay\u2013<scp>S<\/scp>achs disease: The International and <scp>A<\/scp>ustralian experience"],"prefix":"10.1111","volume":"51","author":[{"given":"Raelia M","family":"Lew","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynaecology QEII Research Institute for Mothers and Infants University of Sydney  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Burnett","sequence":"additional","affiliation":[{"name":"Sydney Medical School\u2010Northern Royal North Shore Hospital E25 University of Sydney  Sydney New South Wales Australia"},{"name":"Pacific Laboratory Medicine Services (PaLMS) NSW Health Pathology North Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann\u00e9 L","family":"Proos","sequence":"additional","affiliation":[{"name":"Pacific Laboratory Medicine Services (PaLMS) NSW Health Pathology North Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristine","family":"Barlow\u2010Stewart","sequence":"additional","affiliation":[{"name":"Sydney Medical School\u2010Northern Royal North Shore Hospital E25 University of Sydney  Sydney New South Wales Australia"},{"name":"NSW Centre for Genetics Education Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin B","family":"Delatycki","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Austin Health  Melbourne Victoria Australia"},{"name":"Bruce Lefroy Centre for Genetic Health Research Murdoch Childrens Research Institute  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes","family":"Bankier","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Austin Health  Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry","family":"Aizenberg","sequence":"additional","affiliation":[{"name":"Wolper Jewish Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J","family":"Field","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yemima","family":"Berman","sequence":"additional","affiliation":[{"name":"Sydney Medical School\u2010Northern Royal North Shore Hospital E25 University of Sydney  Sydney New South Wales Australia"},{"name":"Department of Clinical Genetics Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Fleischer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Royal North Shore Hospital  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Fietz","sequence":"additional","affiliation":[{"name":"Department of Biochemical Genetics SA Pathology  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1993.03510190063028"},{"key":"e_1_2_9_3_1","first-page":"2839","volume-title":"The Metabolic and Molecular Basis Of Inherited Disease","author":"Gravel RA","year":"1995"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-011-0057-x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.3.177"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199007053230102"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010215)99:1<70::AID-AJMG1120>3.0.CO;2-0"},{"key":"e_1_2_9_8_1","volume-title":"World Health Organisation Technical Report Series 865","author":"Control of Hereditory Diseases","year":"1996"},{"key":"e_1_2_9_9_1","unstructured":"CommitteeUNSNHS Policy database Tay Sachs disease 2006. Available from:http:\/\/www.screening.nhs.uk\/taysachs[accessed 24 May 2014] NHS."},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e3181bd12f4"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1701-2163(16)32131-4"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31815f6eac"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1998.2.271"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0669-y"},{"key":"e_1_2_9_15_1","unstructured":"State of Israel MoHS.Genetic Inquiries and Pregestation tests or Tests during Pregnancy 2013. Available from:http:\/\/www.health.gov.il\/English\/Services\/Citizen_Services\/Pages\/Genetic_tests.aspx2013[accessed 05 July 2013]."},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000178496.91670.3b"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-011-0071-z"},{"key":"e_1_2_9_18_1","first-page":"319","article-title":"Economic considerations in genetic screening programs for Tay\u2010Sachs disease","volume":"18","author":"Tsukahara T","year":"1977","journal-title":"Prog. Clin. Biol. Res."},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511481277"},{"key":"e_1_2_9_20_1","volume-title":"Judaism in Australia","author":"Rubinstein WD","year":"1995"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.5694\/mja12.11010"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014401"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-2660(01)44087-9"},{"key":"e_1_2_9_24_1","first-page":"793","article-title":"Twenty\u2010year outcome analysis of genetic screening programs for Tay\u2010Sachs and beta\u2010thalassemia disease carriers in high schools","volume":"59","author":"Mitchell JJ","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1995.tb124595.x"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.e45"},{"key":"e_1_2_9_27_1","unstructured":"BurnettLPA Barlow\u2010StewartK AizenbergHEvaluation of deferred selection of result reporting strategies in community genetic screening for autosomal recessive disorders.2013."},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01459.x"},{"issue":"2","key":"e_1_2_9_29_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1159\/000484845","article-title":"Genetic services in Israel","volume":"5","author":"Chemke J","year":"1997","journal-title":"Eur. J. Hum. Genet."},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-013-0163-z"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-200109000-00019"},{"key":"e_1_2_9_32_1","first-page":"317","article-title":"Pitfalls in Tay\u2010Sachs carrier detection: physician referral patterns and patient ignorance","volume":"89","author":"Shapiro DA","year":"1989","journal-title":"N. Y. State J. Med."},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1089\/10906570050501470"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2010.02.002"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1017\/thg.2012.152"},{"key":"e_1_2_9_36_1","unstructured":"NHMRC.How to review the evidence: systematic identification and review of the scientific literature 1999. Reference number CP65 ed.http:\/\/www.nhmrc.gov.au\/guidelines\/publications\/cp65[accessed 16 November 2013]. National Health and Medical Research Council Australia (NHMRC) p. This handbook describes how to systematically identify scientific literature relevant to a particular question select and review the most important (highest quality) studies and summarise and present the results for further consideration by the committee that will develop the clinical practice guidelines."},{"key":"e_1_2_9_37_1","first-page":"460","article-title":"Determinants of utilization of Tay\u2010Sachs screening","volume":"82","author":"Garber AP","year":"1993","journal-title":"Obstet. Gynecol."},{"key":"e_1_2_9_38_1","first-page":"549","article-title":"Screening for carriers of Tay\u2010Sachs disease: two approaches","volume":"119","author":"Clarke JT","year":"1978","journal-title":"Can. Med. Assoc. J."},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8545(01)00002-X"},{"key":"e_1_2_9_40_1","first-page":"12","article-title":"Population\u2010based carrier screening and prenatal diagnosis","volume":"36","author":"Strom CM","year":"2004","journal-title":"MLO Med. Lab. Obs."},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000132681.36771.63"},{"key":"e_1_2_9_42_1","first-page":"333","article-title":"Genetic screening: a primer for primary care","volume":"56","author":"Andermann A","year":"2010","journal-title":"Can. Fam. Physician Medecin de Famille Canadien."},{"key":"e_1_2_9_43_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-199612000-00014"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181c6e318"},{"key":"e_1_2_9_45_1","first-page":"e4f9877ab8ffa9","article-title":"Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases","author":"Kingsmore S","year":"2012","journal-title":"PLoS Curr."},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001756"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2010.05.012"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-012-9548-0"}],"container-title":["Journal of Paediatrics and Child Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjpc.12632","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjpc.12632","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jpc.12632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T18:24:30Z","timestamp":1695493470000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jpc.12632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,13]]},"references-count":47,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"alternative-id":["10.1111\/jpc.12632"],"URL":"https:\/\/doi.org\/10.1111\/jpc.12632","archive":["Portico"],"relation":{},"ISSN":["1034-4810","1440-1754"],"issn-type":[{"value":"1034-4810","type":"print"},{"value":"1440-1754","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,13]]},"assertion":[{"value":"2014-05-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-06-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}