{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:30:30Z","timestamp":1760146230441,"version":"build-2065373602"},"reference-count":14,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T00:00:00Z","timestamp":1729468800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Institutes of Health","award":["R01 AI143710","R01 AI136526","K01 HL161257","TL1 TR002244"],"award-info":[{"award-number":["R01 AI143710","R01 AI136526","K01 HL161257","TL1 TR002244"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Objective: We aimed to develop an algorithm that accurately identifies children with Down syndrome (DS) using administrative data. Methods: We identified a cohort of children born between 2000 and 2017, enrolled in the Tennessee Medicaid Program (TennCare), who either had DS coded on their birth certificate or had a diagnosis listed using an International Classification of Diseases (ICD) code (suspected DS), and who received care at Vanderbilt University Medical Center, a comprehensive academic medical center, in the United States. Children with suspected DS were defined as having DS if they had (a) karyotype-confirmed DS indicated on their birth certificate; (b) karyotype-pending DS indicated on their birth certificate (or just DS if test type was not specified) and at least two healthcare encounters for DS during the first 6 years of life; or (c) at least three healthcare encounters for DS, with the first and last encounter separated by at least 30 days, during the first six years of life. The positive predictive value (PPV) of the algorithm and 95% confidence interval (CI) were reported. Results: Of the 411 children with suspected DS, 354 (86.1%) were defined as having DS by the algorithm. According to medical chart review, the algorithm correctly identified 347 children with DS (PPV = 98%, 95%CI: 96.0\u201399.0%). Of the 57 children the algorithm defined as not having DS, 50 (97.7%, 95%CI: 76.8\u201393.9%) were confirmed as not having DS by medical chart review. Conclusions: An algorithm that accurately identifies individuals with DS using birth certificate data and\/or ICD codes provides a valuable tool to study DS using administrative data.<\/jats:p>","DOI":"10.3390\/children11101271","type":"journal-article","created":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T09:58:24Z","timestamp":1729504704000},"page":"1271","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Development and Validation of a Diagnostic Algorithm for Down Syndrome Using Birth Certificate and International Classification of Diseases Codes"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0285-4013","authenticated-orcid":false,"given":"Lin","family":"Ammar","sequence":"first","affiliation":[{"name":"Division of Epidemiology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"Bird","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Nian","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Maxwell-Horn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rees","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, College of Medicine, University of Arizona, Tucson, AZ 85721, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tan","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9517-0739","authenticated-orcid":false,"given":"Corinne","family":"Riddell","sequence":"additional","affiliation":[{"name":"Division of Biostatistics and Epidemiology, School of Public Health, University of California, Berkeley, CA 94720, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tebeb","family":"Gebretsadik","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8356-3965","authenticated-orcid":false,"given":"Brittney","family":"Snyder","sequence":"additional","affiliation":[{"name":"Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7470-1166","authenticated-orcid":false,"given":"Tina","family":"Hartert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA"},{"name":"Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pingsheng","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Biostatistics, Vanderbilt University Medical Center, Nashville, TN 37232, USA"},{"name":"Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"e2301","DOI":"10.1002\/bdr2.2301","article-title":"National population-based estimates for major birth defects, 2016\u20132020","volume":"116","author":"Stallings","year":"2024","journal-title":"Birth Defects Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/s41572-019-0143-7","article-title":"Down syndrome","volume":"6","author":"Antonarakis","year":"2020","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e2022057010","DOI":"10.1542\/peds.2022-057010","article-title":"Health Supervision for Children and Adolescents with Down Syndrome","volume":"149","author":"Bull","year":"2022","journal-title":"Pediatrics"},{"key":"ref_4","unstructured":"(2024, April 03). National Institute of Health, Available online: https:\/\/www.nih.gov\/include-project."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1097\/01.mlr.0000132391.59713.0d","article-title":"Validity of procedure codes in International Classification of Diseases, 9th revision, clinical modification administrative data","volume":"42","author":"Quan","year":"2004","journal-title":"Med. Care"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.jclinepi.2011.08.002","article-title":"Administrative database research has unique characteristics that can risk biased results","volume":"65","author":"Austin","year":"2012","journal-title":"J. Clin. Epidemiol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1093\/gerona\/62.3.281","article-title":"Methodology, design, and analytic techniques to address measurement of comorbid disease","volume":"62","author":"Lash","year":"2007","journal-title":"J. Gerontol. Ser. A Biol. Sci. Med. Sci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1097\/00005650-200210000-00004","article-title":"Can administrative data be used to compare postoperative complication rates across hospitals?","volume":"40","author":"Romano","year":"2002","journal-title":"Med. Care"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1177\/106286060201700404","article-title":"Can administrative data be used to ascertain clinically significant postoperative complications?","volume":"17","author":"Romano","year":"2002","journal-title":"Am. J. Med. Qual."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e52","DOI":"10.1097\/MLR.0b013e31827631d2","article-title":"Fidelity of administrative data when researching Down syndrome","volume":"52","author":"Jensen","year":"2014","journal-title":"Med. Care"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1214\/ss\/1009213286","article-title":"Interval estimation for a binomial proportion\u2014Comment\u2014Rejoinder","volume":"16","author":"Brown","year":"2001","journal-title":"Stat. Sci."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1046\/j.1525-1446.2003.20409.x","article-title":"Birth certificate methods in five hospitals","volume":"20","author":"Northam","year":"2003","journal-title":"Public Health Nurs."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/pd.2910","article-title":"Prenatal diagnosis of Down syndrome: A systematic review of termination rates (1995\u20132011)","volume":"32","author":"Natoli","year":"2012","journal-title":"Prenat. Diagn."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1002\/bdra.20414","article-title":"Causes of death and case fatality rates among infants with down syndrome in metropolitan Atlanta","volume":"79","author":"Shin","year":"2007","journal-title":"Birth Defects Res. Part A Clin. Mol. Teratol."}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/10\/1271\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:17:36Z","timestamp":1760113056000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/10\/1271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,21]]},"references-count":14,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2024,10]]}},"alternative-id":["children11101271"],"URL":"https:\/\/doi.org\/10.3390\/children11101271","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2024,10,21]]}}}