{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T17:02:52Z","timestamp":1785776572093,"version":"3.56.0"},"reference-count":34,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,1,5]],"date-time":"2021-01-05T00:00:00Z","timestamp":1609804800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>The objective of this study is to assess the evidence about the demographic transformation of the Down Syndrome population, with a specific focus on prenatal testing, and to identify sources frequently used for demographic assessment of Down Syndrome in the world. We reviewed existing studies on demographic transformations in the population with Down Syndrome, specifically birthrate indicators, under the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. The searches were made in Medline (via EBSCO Host), Academic Search Complete (via EBSCO Host), PsycINFO (via EBSCO Host), Web of Science (Core Collection), Public Health Database (via ProQuest), and The Cochrane Library. The terms were developed through Medical Subject Headings (MESH) and American Psycological Asociation Thesaurus of Psychological Index Terms (APA). Full texts were reviewed if information was given regarding location and birthrate for a range of three years or more, and if the first and last year considered was within 1960 and 2019. We found 22 references with a period of study between 1960 and 2019 following the global spread of prenatal testing for Down Syndrome. We found a consistent association between prenatal diagnosis and birthrate, enough to explain the significant fall in the prevalence of Down Syndrome, a somewhat rising incidence of Down Syndrome related to increased maternal age and extension of fertility services in healthcare systems, a generalized use of specific congenital birth defect registries as the primary source of data, and an unclear influence of socio-cultural and territorial variables. Our findings can inform research, policy, and practice to improve the reproductive health and quality of life of the population with Down Syndrome.<\/jats:p>","DOI":"10.3390\/ijerph18010352","type":"journal-article","created":{"date-parts":[[2021,1,5]],"date-time":"2021-01-05T21:18:57Z","timestamp":1609881537000},"page":"352","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Demographic Assessment of Down Syndrome: A Systematic Review"],"prefix":"10.3390","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8652-5104","authenticated-orcid":false,"given":"Agust\u00edn","family":"Huete-Garc\u00eda","sequence":"first","affiliation":[{"name":"Institute on Community Integration (INICO), School of Education, University of Salamanca, Paseo de Canalejas 169, 37008 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7277-8733","authenticated-orcid":false,"given":"M\u00f3nica","family":"Otaola-Barranquero","sequence":"additional","affiliation":[{"name":"Institute on Community Integration (INICO), School of Education, University of Salamanca, Paseo de Canalejas 169, 37008 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"517","DOI":"10.30541\/v25i4pp.517-534","article-title":"Some considerations for demographic assessment of developing countries","volume":"25","author":"Afzal","year":"1986","journal-title":"Pak. Dev. Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1353\/hub.2003.0059","article-title":"Down syndrome: Interaction between culture, demography, and biology in determining the prevalence of a genetic trait","volume":"75","author":"Olsen","year":"2003","journal-title":"Hum. Biol."},{"key":"ref_3","first-page":"129","article-title":"Hacia descendencias saludables: Algunos or\u00edgenes del diagn\u00f3stico prenatal en Espa\u00f1a","volume":"60","author":"Santesmases","year":"2008","journal-title":"Asclepio. Rev. Hist. Med. Cienc."},{"key":"ref_4","first-page":"140","article-title":"Diagn\u00f3stico prenatal de las anomal\u00edas cromos\u00f3micas: Pasado, presente y futuro","volume":"17","author":"Plaja","year":"2014","journal-title":"Rev. Latinoam. Perinat."},{"key":"ref_5","unstructured":"Castro-Volio, I. (2004). El diagn\u00f3stico prenatal de defectos cromos\u00f3micos en Costa Rica. Rev. Biol. Trop., 54."},{"key":"ref_6","first-page":"25","article-title":"Antecedentes y actualidades en el diagn\u00f3stico prenatal","volume":"23","year":"1997","journal-title":"Rev. Cuba. Obstet. Ginecol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12884-018-2135-0","article-title":"Improving women\u2019s knowledge about prenatal screening in the era of non-invasive prenatal testing for Down syndrome\u2014Development and acceptability of a low literacy decision aid","volume":"18","author":"Smith","year":"2018","journal-title":"BMC Pregnancy Childbirth"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1111\/aogs.13841","article-title":"Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation","volume":"99","author":"Petersen","year":"2020","journal-title":"Acta Obstet. Gynecol. Scand."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ejhg.2012.94","article-title":"Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: Impact of maternal age and prenatal screening","volume":"21","author":"Loane","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"38197","DOI":"10.1111\/j.1479-828X.1983.tb00577.x","article-title":"The effect of prenatal diagnosis on the incidence of Down syndrome livebirths in the Singapore General Hospital","volume":"23","author":"Mulcahy","year":"1983","journal-title":"Aust. N. Z. J. Obstet. Gynaecol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/bdra.20064","article-title":"Prenatal diagnosis, pregnancy terminations and prevalence of Down Syndrome in Atlanta","volume":"70","author":"Siffel","year":"2004","journal-title":"Birth Defects Res. Part A Clin. Mol. Teratol."},{"key":"ref_12","unstructured":"World Health Organization (2001). International Classification of Functioning, Disability and Health: ICD, World Health Organization."},{"key":"ref_13","unstructured":"United Nations (2006). Convention on the Rights of Persons with Disabilities, United Nations."},{"key":"ref_14","first-page":"72","article-title":"Is the prevalence of Down syndrome births in Hawai\u2019i increasing?","volume":"70","author":"McDermott","year":"2011","journal-title":"Hawaii Med. J."},{"key":"ref_15","unstructured":"Committe on the Rights of Persons with Disabilities (2019). Concluding Observations on the Combined Second and Third Periodic Reports of Spain, Committe on the Rights of Persons with Disabilities."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1002\/tera.1420450307","article-title":"Birth prevalence of down syndrome in a predominantly Latino population: A 15-year study","volume":"45","author":"Wilson","year":"1992","journal-title":"Teratology"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1186\/s13052-015-0192-9","article-title":"Prevalence, prenatal screening and neonatal features in children with Down syndrome: A registry-based national study","volume":"41","author":"Glivetic","year":"2015","journal-title":"Ital. J. Pediatr."},{"key":"ref_18","first-page":"177","article-title":"Prevalencia al nacimiento de s\u00edndrome de Down, seg\u00fan edad materna en Costa Rica, 1996\u20132016","volume":"4","year":"2019","journal-title":"Acta Med. Costarric."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"4640","DOI":"10.4238\/2012.September.10.1","article-title":"Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey","volume":"11","author":"Acikbas","year":"2012","journal-title":"Genet. Mol. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0180348","article-title":"Impact of prenatal screening on the prevalence of down syndrome in Slovenia","volume":"12","author":"Rudolf","year":"2017","journal-title":"PLoS ONE"},{"key":"ref_21","first-page":"38","article-title":"Demograf\u00eda e inclusi\u00f3n social de las personas con s\u00edndrome de Down","volume":"33","year":"2016","journal-title":"Rev. S\u00edndrome Down Rev. Espa\u00f1ola Investig. Inf. Sobre S\u00edndrome Down"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1007\/s12519-016-0071-5","article-title":"A population-based study of prevalence of Down syndrome in Southern Thailand","volume":"13","author":"Jaruratanasirikul","year":"2017","journal-title":"World J. Pediatr."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1002\/pd.4421","article-title":"Current status of prenatal diagnosis in Cuba: Causes of low prevalence of Down syndrome","volume":"34","author":"Perez","year":"2014","journal-title":"Prenat. Diagn."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1046\/j.1365-3016.1997.d01-25.x","article-title":"Twenty-year birth prevalence of Down syndrome in Cape Town, South Africa","volume":"11","author":"Molteno","year":"1997","journal-title":"Paediatr. Perinat. Epidemiol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/1097-0223(200009)20:9<709::AID-PD910>3.0.CO;2-J","article-title":"Trends in live birth prevalence of Down syndrome in the Northern Netherlands 1987-96: The impact of screening and prenatal diagnosis","volume":"20","author":"Wortelboer","year":"2000","journal-title":"Prenat. Diagn."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/978-3-642-68006-9_15","article-title":"Incidence of Down\u2019s syndrome in Sweden during the years 1968-1977","volume":"2","author":"Lindsten","year":"1981","journal-title":"Hum. Genet. Suppl."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1111\/j.1471-0528.2000.tb11668.x","article-title":"The impact of maternal serum screening on the birth prevalence of Down\u2019s syndrome and the use of amniocentesis and chorionic villus sampling in South Australia","volume":"107","author":"Cheffins","year":"2000","journal-title":"Br. J. Obstet. Gynaecol."},{"key":"ref_28","first-page":"70","article-title":"Birth Prevalence of Down Syndrome in Singapore from 1993 to 1998","volume":"43","author":"Lai","year":"2002","journal-title":"Singap. Med. J."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1002\/pd.1220","article-title":"The evolving national birth prevalence of Down syndrome in Taiwan. A study on the impact of second-trimester maternal serum screening","volume":"25","author":"Jou","year":"2005","journal-title":"Prenat. Diagn."},{"key":"ref_30","first-page":"60","article-title":"Prevalence of Down Syndrome in Glasgow, 1980-96-the growing impact of prenatal diagnosis on younger mothers","volume":"60","author":"Iliyasu","year":"2002","journal-title":"Health Bull."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/(SICI)1096-8628(19990604)84:4<340::AID-AJMG6>3.0.CO;2-N","article-title":"Recent trends in the prevalence of Down syndrome in Japan, 1980\u20131997","volume":"84","author":"Hoshi","year":"1999","journal-title":"Am. J. Med. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1038\/ejhg.2008.122","article-title":"Twenty-year trends in prevalence and survival of Down syndrome","volume":"16","author":"Irving","year":"2008","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_33","first-page":"386","article-title":"International variation in reported livebirth prevalence rates of Down syndrome, adjusted for maternal age","volume":"36","author":"Carothers","year":"1999","journal-title":"J. Med. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"39","DOI":"10.14201\/scero20205143951","article-title":"La \u201cventaja del s\u00edndrome de Down\u201d en la Calidad de Vida de J\u00f3venes con Discapacidad Intelectual","volume":"50","author":"Berastegui","year":"2020","journal-title":"Siglo Cero"}],"container-title":["International Journal of Environmental Research and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1660-4601\/18\/1\/352\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:07:15Z","timestamp":1760159235000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1660-4601\/18\/1\/352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,5]]},"references-count":34,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2021,1]]}},"alternative-id":["ijerph18010352"],"URL":"https:\/\/doi.org\/10.3390\/ijerph18010352","relation":{},"ISSN":["1660-4601"],"issn-type":[{"value":"1660-4601","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,5]]}}}