{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T10:30:29Z","timestamp":1789813829823,"version":"4.0.1"},"reference-count":60,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Obstetrics &amp; Gynaecology"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1016\/j.bpobgyn.2017.04.003","type":"journal-article","created":{"date-parts":[[2017,4,21]],"date-time":"2017-04-21T13:45:20Z","timestamp":1492782320000},"page":"2-10","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["Preconception and prenatal genetic counselling"],"prefix":"10.1016","volume":"42","author":[{"given":"Adonis S.","family":"Ioannides","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bpobgyn.2017.04.003_bib1","series-title":"Practical Genetic Counselling","author":"Harper","year":"2010"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib2","series-title":"Preconception care: a good beginning","author":"Health Council of the Netherlands","year":"2007"},{"issue":"1","key":"10.1016\/j.bpobgyn.2017.04.003_bib3","first-page":"50","article-title":"The past and present practices and continuing controversies of preconception care","volume":"5","author":"de Weerd","year":"2002","journal-title":"Community Genet"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib4","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1097\/00006250-200509000-00052","article-title":"The importance of preconception care in the continuum of women's healthcare. Committee Opinion No. 313","volume":"106","author":"American College of Obstetricians and Gynecologists","year":"2005","journal-title":"Obstet Gynecol"},{"issue":"2 Pt 1","key":"10.1016\/j.bpobgyn.2017.04.003_bib5","first-page":"325","article-title":"Folic acid for the prevention of neural tube defects. American Academy of Pediatrics. Committee on Genetics","volume":"104","year":"1999","journal-title":"Pediatrics"},{"issue":"8760","key":"10.1016\/j.bpobgyn.2017.04.003_bib6","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0140-6736(91)90133-A","article-title":"Prevention of neural tube defects: results of the Medical Research Council Vitamin Study","volume":"338","author":"MRC Vitamin Study Research Group","year":"1991","journal-title":"Lancet"},{"issue":"8","key":"10.1016\/j.bpobgyn.2017.04.003_bib7","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S1474-4422(13)70110-8","article-title":"Neural tube defects: recent advances, unsolved questions, and controversies","volume":"12","author":"Copp","year":"2013","journal-title":"Lancet Neurol"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib8","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ajmg.1320070307","article-title":"Neural tube malformations: complex segregation analysis and recurrence risk","volume":"7","author":"Pietrzyk","year":"1980","journal-title":"Am J Med Genet"},{"issue":"26","key":"10.1016\/j.bpobgyn.2017.04.003_bib9","doi-asserted-by":"crossref","first-page":"1832","DOI":"10.1056\/NEJM199212243272602","article-title":"Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation","volume":"327","author":"Czeizel","year":"1992","journal-title":"N\u00a0Engl J Med"},{"issue":"20","key":"10.1016\/j.bpobgyn.2017.04.003_bib10","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1056\/NEJM199911113412001","article-title":"Prevention of neural-tube defects with folic acid in China","volume":"341","author":"Berry","year":"1999","journal-title":"N\u00a0Engl J Med"},{"issue":"5","key":"10.1016\/j.bpobgyn.2017.04.003_bib11","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1097\/EDE.0b013e3182227887","article-title":"Folic acid intake and spina bifida in the era of dietary folic acid fortification","volume":"22","author":"Ahrens","year":"2011","journal-title":"Epidemiology"},{"issue":"11","key":"10.1016\/j.bpobgyn.2017.04.003_bib12","doi-asserted-by":"crossref","first-page":"962","DOI":"10.1002\/bdra.22853","article-title":"Effects of inositol supplementation in a cohort of mothers at risk of producing an NTD pregnancy","volume":"91","author":"Cavalli","year":"2011","journal-title":"Birth Defects Res Part A: Clin Mol Teratol"},{"issue":"06","key":"10.1016\/j.bpobgyn.2017.04.003_bib13","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1017\/S0007114515005322","article-title":"Inositol for the prevention of neural tube defects: a pilot randomised controlled trial","volume":"115","author":"Greene","year":"2016","journal-title":"Br J Nutr"},{"issue":"9","key":"10.1016\/j.bpobgyn.2017.04.003_bib14","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1161\/CIRCULATIONAHA.116.022126","article-title":"Effect of Folic Acid Food Fortification in Canada on Congenital Heart Disease Subtypes","volume":"134","author":"Liu","year":"2016","journal-title":"Circulation"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib15","doi-asserted-by":"crossref","first-page":"8506","DOI":"10.1038\/srep08506","article-title":"Maternal folic Acid supplementation and the risk of congenital heart defects in offspring: a meta-analysis of epidemiological observational studies","volume":"5","author":"Feng","year":"2015","journal-title":"Sci Rep"},{"issue":"1","key":"10.1016\/j.bpobgyn.2017.04.003_bib16","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/s13052-016-0278-z","article-title":"Prevalence and determinants of preconception folic acid use: an Italian multicenter survey","volume":"42","author":"Nilsen","year":"2016","journal-title":"Ital J Pediatr"},{"issue":"9","key":"10.1016\/j.bpobgyn.2017.04.003_bib17","doi-asserted-by":"crossref","first-page":"1974","DOI":"10.1007\/s10995-015-1705-2","article-title":"Association between preconception counseling and folic acid supplementation before pregnancy and reasons for non-use","volume":"19","author":"Bixenstine","year":"2015","journal-title":"Matern Child Health J"},{"issue":"5 Pt 2","key":"10.1016\/j.bpobgyn.2017.04.003_bib18","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1542\/peds.111.S1.1142","article-title":"Pregnancy intendedness and the use of periconceptional folic acid","volume":"111","author":"Rosenberg","year":"2003","journal-title":"Pediatr"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib19","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1111\/chd.12206","article-title":"Preconceptual Folic Acid Use and Recurrence Risk Counseling for Congenital Heart Disease","volume":"10","author":"Peyvandi","year":"2015","journal-title":"Congenit Heart Dis"},{"issue":"2","key":"10.1016\/j.bpobgyn.2017.04.003_bib20","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s11065-011-9166-x","article-title":"Fetal alcohol spectrum disorders: an overview","volume":"21","author":"Riley","year":"2011","journal-title":"Neuropsychol Rev"},{"issue":"6","key":"10.1016\/j.bpobgyn.2017.04.003_bib21","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1111\/acer.13066","article-title":"The genetics of fetal alcohol spectrum disorders","volume":"40","author":"Eberhart","year":"2016","journal-title":"Alcohol: Clin Exp Res"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib22","first-page":"441","article-title":"Family History: the three-generation pedigree","volume":"72","author":"Wattendorf","year":"2005","journal-title":"Am Fam Physician"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib23","unstructured":"Saul R, Tarleton J. FMR1-Related Disorders. 1998 Jun 16 [Updated 2012 Apr 26]. GeneReviews\u2122[Internet]. Seattle (WA): University of Washington, Seattle; 1993."},{"issue":"8","key":"10.1016\/j.bpobgyn.2017.04.003_bib24","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1097\/01.GIM.0000182468.22666.dd","article-title":"Fragile X syndrome: diagnostic and carrier testing","volume":"7","author":"Sherman","year":"2005","journal-title":"Genet Med"},{"issue":"7","key":"10.1016\/j.bpobgyn.2017.04.003_bib25","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1097\/GIM.0b013e3181e38fb6","article-title":"A\u00a0systematic review of population screening for fragile X syndrome","volume":"12","author":"Hill","year":"2010","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.bpobgyn.2017.04.003_bib26","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1007\/s10897-012-9524-8","article-title":"Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors","volume":"21","author":"Finucane","year":"2012","journal-title":"J\u00a0Genetic Couns"},{"issue":"1","key":"10.1016\/j.bpobgyn.2017.04.003_bib27","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/hex.12009","article-title":"Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening","volume":"18","author":"Ames","year":"2015","journal-title":"Health Expect"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib28","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.jcf.2010.02.005","article-title":"Benchmarks for cystic fibrosis carrier screening: a European consensus document","volume":"9","author":"Castellani","year":"2010","journal-title":"J\u00a0Cyst Fibros"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib29","first-page":"1","article-title":"Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease","volume":"8","author":"Hussein","year":"2015","journal-title":"The Cochrane Library"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib30","series-title":"Increasing options, informing choice: A report on preconception genetic testing and screening","author":"Human Genetics Commission","year":"2011"},{"issue":"2","key":"10.1016\/j.bpobgyn.2017.04.003_bib31","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1007\/s00439-009-0669-y","article-title":"Population programs for the detection of couples at risk for severe monogenic genetic diseases","volume":"126","author":"Zlotogora","year":"2009","journal-title":"Hum Genet"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib32","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/ajmg.c.30202","article-title":"Moving up the slippery slope: mandated genetic screening on Cyprus","volume":"151C","author":"Cowan","year":"2009","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"sup1","key":"10.1016\/j.bpobgyn.2017.04.003_bib33","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.3109\/03630260903344838","article-title":"Preimplantation genetic diagnosis","volume":"33","author":"Petrou","year":"2009","journal-title":"Hemoglobin"},{"issue":"2","key":"10.1016\/j.bpobgyn.2017.04.003_bib34","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1046\/j.1369-6513.2001.00140.x","article-title":"A\u00a0measure of informed choice","volume":"4","author":"Marteau","year":"2001","journal-title":"Health Expect"},{"issue":"2","key":"10.1016\/j.bpobgyn.2017.04.003_bib35","first-page":"S5","article-title":"Population genetic screening programmes: technical, social and ethical issues","volume":"11","author":"European Society of Human Genetics","year":"2003","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"10.1016\/j.bpobgyn.2017.04.003_bib36","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1177\/1359105311417193","article-title":"Reproductive empowerment: The main motivator and outcome of carrier testing","volume":"17","author":"Lewis","year":"2012","journal-title":"J\u00a0Health Psychol"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib37","article-title":"Population carrier screening: psychological impact","author":"Archibald","year":"2011","journal-title":"eLS"},{"issue":"5","key":"10.1016\/j.bpobgyn.2017.04.003_bib38","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1097\/01.GIM.0000139506.11694.7C","article-title":"Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel","volume":"6","author":"Watson","year":"2004","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.bpobgyn.2017.04.003_bib39","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/s10897-013-9636-9","article-title":"Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors","volume":"23","author":"Langfelder-Schwind","year":"2014","journal-title":"J\u00a0Gen Couns"},{"issue":"2","key":"10.1016\/j.bpobgyn.2017.04.003_bib40","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1097\/GIM.0b013e3181fa24c4","article-title":"Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis","volume":"13","author":"Strom","year":"2011","journal-title":"Genet Med"},{"issue":"5","key":"10.1016\/j.bpobgyn.2017.04.003_bib41","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1097\/00125817-200209000-00010","article-title":"Standards and guidelines for CFTR mutation testing","volume":"4","author":"Richards","year":"2002","journal-title":"Genet Med"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib42","series-title":"NHS Sickle Cell & Thalassaemia Screening Programme. United Kingdom Screening Programmes Information Strategy","author":"NHS Screening Programme","year":"2013"},{"issue":"2","key":"10.1016\/j.bpobgyn.2017.04.003_bib43","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1258\/0969141053908258","article-title":"Antenatal thalassaemia carrier testing: women's perceptions of \u201cinformation\u201d and \u201cconsent\u201d","volume":"12","author":"Ahmed","year":"2005","journal-title":"J\u00a0Med Screen"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib44","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1097\/00006250-200701000-00055","article-title":"Hemoglobinopathies in pregnancy. Practice Bulletin No. 78","volume":"109","author":"American College of Obstetricians and Gynecologists","year":"2007","journal-title":"Obstet Gynecol"},{"issue":"8216","key":"10.1016\/j.bpobgyn.2017.04.003_bib45","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1016\/S0140-6736(81)91682-2","article-title":"Prevention of thalassaemia in Cyprus","volume":"317","author":"Angastiniotis","year":"1981","journal-title":"Lancet"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib46","first-page":"197","article-title":"Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze","volume":"211","author":"Ferreira","year":"2014","journal-title":"Obstet Gynecol"},{"issue":"1","key":"10.1016\/j.bpobgyn.2017.04.003_bib47","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1097\/GIM.0b013e31815f247c","article-title":"Carrier screening in individuals of Ashkenazi Jewish descent","volume":"10","author":"Gross","year":"2008","journal-title":"Genet Med"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib48","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1111\/jpc.12632","article-title":"Ashkenazi Jewish population screening for Tay\u2013Sachs disease: The International and Australian experience","volume":"51","author":"Lew","year":"2015","journal-title":"J\u00a0Paediatr Child Health"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib49","doi-asserted-by":"crossref","first-page":"S192","DOI":"10.1007\/PL00014401","article-title":"Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model","volume":"159","author":"Kaback","year":"2000","journal-title":"Eur J Pediatr"},{"issue":"2","key":"10.1016\/j.bpobgyn.2017.04.003_bib50","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1023\/A:1014593404915","article-title":"Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors","volume":"11","author":"Bennett","year":"2002","journal-title":"J\u00a0Genet Couns"},{"issue":"5","key":"10.1016\/j.bpobgyn.2017.04.003_bib51","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1002\/ajmg.a.35272","article-title":"Consanguinity and the risk of congenital heart disease","volume":"158","author":"Shieh","year":"2012","journal-title":"Am J Med Genet A"},{"issue":"6","key":"10.1016\/j.bpobgyn.2017.04.003_bib52","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1111\/ajo.12493","article-title":"Consanguinity and associated perinatal outcomes, including stillbirth","volume":"56","author":"Kapurubandara","year":"2016","journal-title":"Aust N Z J Obstet Gynaecol"},{"issue":"8","key":"10.1016\/j.bpobgyn.2017.04.003_bib53","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1097\/GIM.0b013e31817d2a65","article-title":"The missing element: consanguinity as a component of genetic risk assessment","volume":"10","author":"Bishop","year":"2008","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.bpobgyn.2017.04.003_bib54","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cell.2013.09.006","article-title":"The next-generation sequencing revolution and its impact on genomics","volume":"155","author":"Koboldt","year":"2013","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib55","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1097\/AOG.0000000000000666","volume":"125","author":"Edwards","year":"2015","journal-title":"Obstet Gynecol"},{"issue":"7","key":"10.1016\/j.bpobgyn.2017.04.003_bib56","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1001\/jama.2016.11139","article-title":"Modeled fetal risk of genetic diseases identified by expanded carrier screening","volume":"316","author":"Haque","year":"2016","journal-title":"JAMA"},{"issue":"6","key":"10.1016\/j.bpobgyn.2017.04.003_bib57","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/gim.2013.47","article-title":"ACMG position statement on prenatal\/preconception expanded carrier screening","volume":"15","author":"Grody","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.bpobgyn.2017.04.003_bib58","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1053\/j.semperi.2015.11.005","article-title":"Expanded carrier screening: A review of early implementation and literature","volume":"40","author":"Lazarin","year":"2016","journal-title":"Semin Perinatol"},{"issue":"1","key":"10.1016\/j.bpobgyn.2017.04.003_bib59","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s10897-015-9851-7","article-title":"\u201cIs it worth knowing?\u201d Focus group participants' perceived utility of genomic preconception carrier screening","volume":"25","author":"Schneider","year":"2016","journal-title":"J\u00a0Genet Couns"},{"issue":"3","key":"10.1016\/j.bpobgyn.2017.04.003_bib60","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1002\/ajmg.a.37477","article-title":"Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing","volume":"170","author":"Leo","year":"2016","journal-title":"Am J Med Genet A"}],"container-title":["Best Practice &amp; Research Clinical Obstetrics &amp; Gynaecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693417300597?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521693417300597?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T17:08:40Z","timestamp":1761498520000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521693417300597"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":60,"alternative-id":["S1521693417300597"],"URL":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2017.04.003","relation":{},"ISSN":["1521-6934"],"issn-type":[{"value":"1521-6934","type":"print"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Preconception and prenatal genetic counselling","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Obstetrics & Gynaecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bpobgyn.2017.04.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}