{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:57:08Z","timestamp":1788238628220,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,22]],"date-time":"2021-03-22T00:00:00Z","timestamp":1616371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["1R01HD093660\u201001A1"],"award-info":[{"award-number":["1R01HD093660\u201001A1"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Few population\u2010based studies have analyzed patterns of co\u2010occurring birth defects among those with trisomy 13. We evaluated the frequency of all possible combinations of any one, two, three, or four additional co\u2010occurring birth defects among 736 individuals with trisomy 13 using data from the Texas Birth Defects Registry for deliveries during 1999\u20132014. We calculated the observed\u2010to\u2010expected ratio for each combination, adjusting for the known tendency for birth defects to cluster non\u2010specifically. To address potential ascertainment differences among live births and non\u2010live births, we repeated analyses specifically among live births. The combination of defects with the largest observed\u2010to\u2010expected ratio was microcephalus, reduction deformities of brain (e.g., holoprosencephaly), anomalies of nose, and polydactyly. As expected, most of the highest 30 observed\u2010to\u2010expected ratios involved combinations with documented features of trisomy 13, including defects of the scalp (e.g., aplasia cutis) and heart. Results were similar among sensitivity analyses restricted to live births. Our findings may help further delineate the phenotypic spectrum for trisomy 13 and may inform future research related to improving screening and counseling for the condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.62175","type":"journal-article","created":{"date-parts":[[2021,3,22]],"date-time":"2021-03-22T13:32:00Z","timestamp":1616419920000},"page":"1787-1793","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Patterns of congenital anomalies among individuals with trisomy 13 in Texas"],"prefix":"10.1002","volume":"185","author":[{"given":"Diego","family":"Diaz","sequence":"first","affiliation":[{"name":"Department of Epidemiology, Human Genetics and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata H.","family":"Benjamin","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Navarro Sanchez","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Langlois","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8827-1881","authenticated-orcid":false,"given":"Mark A.","family":"Canfield","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services  Austin Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"},{"name":"Center for Precision Health UTHealth School of Public Health and UTHealth School of Biomedical Informatics  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9025-3276","authenticated-orcid":false,"given":"Angela E.","family":"Scheuerle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Metabolism University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian P.","family":"Schaaf","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital  Houston Texas USA"},{"name":"Institute of Human Genetics Heidelberg University  Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1460-5169","authenticated-orcid":false,"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Department of Molecular Physiology and Biophysics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, McGovern Medical School University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph W.","family":"Ray","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics and Metabolism University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott D.","family":"McLean","sequence":"additional","affiliation":[{"name":"Clinical Genetics Section The Children's Hospital of San Antonio  San Antonio Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Swartz","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Data Science UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine L.","family":"Ludorf","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip J.","family":"Lupo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Section of Hematology\u2010Oncology Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5874-4155","authenticated-orcid":false,"given":"A. J.","family":"Agopian","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, Human Genetics and Environmental Sciences UTHealth School of Public Health  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,22]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1549"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34283"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32200"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.1.48"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31835"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370213"},{"issue":"4","key":"e_1_2_10_8_1","first-page":"245","article-title":"Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases","volume":"6","author":"Kroes I.","year":"2014","journal-title":"Facts, Views & Vision in ObGyn"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.194.1.7997556"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20331"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273650"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32220"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.707"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31382"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.4.777"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37355"},{"key":"e_1_2_10_17_1","unstructured":"Texas Department of Health and Human Services. 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