{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T18:04:30Z","timestamp":1791223470826,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,8,6]],"date-time":"2014-08-06T00:00:00Z","timestamp":1407283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Centers for Disease Control and Prevention Centers of Excellence Award No.","award":["U50\/CCU925286"],"award-info":[{"award-number":["U50\/CCU925286"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi\u2010site case\u2010control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007. We identified 517 nonsyndromic cases (378 heterotaxy, 73.1%; 139 situs inversus totalis [SIT], 26.9%) resulting in an estimated birth prevalence of 1.1 per 10,000 live births (95% confidence interval 1.0\u20131.2). Prevalence did not differ significantly across sites, over time, or by inclusion of pregnancy termination. Laterality defects were more common among preterm cases compared to term cases, and in children born to mothers who were non\u2010white or younger than 20 years compared to white mothers or those age 25\u201329 years. The distribution of associated cardiac and extra\u2010cardiac defects, excluding the expected heterotaxy anomalies, varied by type of laterality defect. Cases with heterotaxy were significantly more likely than those with SIT to have double outlet right ventricle, atrioventricular canal defects, pulmonary stenosis, non\u2010tetralogy of Fallot pulmonary atresia with ventricular septal defect, totally and partially anomalous pulmonary venous return; also more likely to have orofacial clefts, esophageal atresia, bowel atresias, and omphalocele, though not reaching statistical significance. Relatively more common among cases with SIT were Dandy\u2010Walker malformation, anotia\/microtia, and limb deficiency. The similarity in the demographic characteristics of heterotaxy and SIT supports the hypothesis that they are part of a continuum of abnormal left\u2010right axis patterning. These findings on laterality defects may help guide clinical care, future research, and prevention strategies. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36695","type":"journal-article","created":{"date-parts":[[2014,8,6]],"date-time":"2014-08-06T13:35:44Z","timestamp":1407332144000},"page":"2581-2591","source":"Crossref","is-referenced-by-count":209,"title":["Laterality defects in the national birth defects prevention study (1998\u20132007): Birth prevalence and descriptive epidemiology"],"prefix":"10.1002","volume":"164","author":[{"given":"Angela E.","family":"Lin","sequence":"first","affiliation":[{"name":"Medical Genetics MassGeneral Hospital for Children Boston Massachusetts"},{"name":"Massachusetts Center for Birth Defects Research and Prevention Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Krikov","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Riehle\u2010Colarusso","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaime L.","family":"Fr\u00edas","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention Atlanta Georgia"},{"name":"McKing Consulting Corporation Fairfax Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Belmont","sequence":"additional","affiliation":[{"name":"Baylor College Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlene","family":"Anderka","sequence":"additional","affiliation":[{"name":"Massachusetts Center for Birth Defects Research and Prevention Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tal","family":"Geva","sequence":"additional","affiliation":[{"name":"Department of Cardiology Boston Children's Hospital Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly D.","family":"Getz","sequence":"additional","affiliation":[{"name":"Massachusetts Center for Birth Defects Research and Prevention Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo D.","family":"Botto","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the National Birth Defects Prevention Study","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0029-7844(95)00386-X"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560105"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1219"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23007"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20403"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.699256"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.103861"},{"key":"e_1_2_7_9_1","unstructured":"ChinAJ.Heterotaxy syndrome and primary ciliary dyskinesia. eMedicine. 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