ArticleAmerican journal of medical genetics. Part A2014
Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.
Article in American journal of medical genetics. Part A, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers, 1 of them a synthesis that pooled it.
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Who cites it
107 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.Clinical genetics · 2026Pooled it
- Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects.Scientific reports · 2026Article
- Global research trends in heterotaxy syndrome with congenital heart defects: a 20-year bibliometric analysis (2006-2025).Translational pediatrics · 2026Article
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- Situs inversus totalis with bilateral broad ligament defects identified during laparoscopic surgery: a case report.Journal of medical case reports · 2026Article
- Laparoscopic Repair of Duodenal Atresia with Concurrent Situs Anomaly: A Case Series and Technical Considerations.Children (Basel, Switzerland) · 2026Article
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- Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.Internal medicine (Tokyo, Japan) · 2026Article
- Navigating Mirror Anatomy: Successful Percutaneous Endoscopic Gastrojejunostomy Tube Placement in Situs Inversus.Cureus · 2026Article
- From multiple spleens to absence: Insights from two cases of heterotaxy syndromes.Radiology case reports · 2026Article
- Left Atrial Isomerism in a Four-Year-Old Girl Diagnosed due to Gastrointestinal Bleeding: A Case Report.Cureus · 2026Article
- Management of Acute Cholecystitis in a Patient With Eisenmenger Syndrome and Abdominal Heterotaxy: A Case Report.The American journal of case reports · 2026Article
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- An Opto-Bio-Hydrodynamic Platform for Instructing Cardiac Left-Right Asymmetry Development.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Plasticity of ventricle position after heart looping in heterotaxy with right isomerism.Science advances · 2025Article
- Acute splenic torsion in an adolescent with polysplenia syndrome: case report.Italian journal of pediatrics · 2025Article
- Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach.American journal of human genetics · 2025Article
- A homozygous human WNT11 variant is associated with laterality, heart and renal defects.Disease models & mechanisms · 2025Article
- Pheochromocytoma in a patient with heterotaxy syndrome: a case report.BMC endocrine disorders · 2025Article
47 more citing papers are in PubMed but not listed here.
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10 authors.
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Abstract
Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control 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 1.0–1.2). 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-white or younger than 20 years compared to white mothers or those age 25–29 years. The distribution of associated cardiac and extra-cardiac 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-tetralogy 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- Walker 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-right axis patterning. These findings on laterality defects may help guide clinical care, future research, and prevention strategies.
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