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Title: Laterality defects in the national birth defects prevention study 1998-2007 birth prevalence and descriptive epidemiology

Author
item LIN, ANGELA - Children'S Hospital - Boston, Massachusetts
item KRIKOV, SERGEY - University Of Utah
item RIEHLE-COLARUSSO, TIFFANY - Centers For Disease Control And Prevention (CDC) - United States
item FRIAS, JAIME - Centers For Disease Control And Prevention (CDC) - United States
item BELMONT, JOHN - Children'S Nutrition Research Center (CNRC)
item ANDERKA, MARLENE - Children'S Hospital - Boston, Massachusetts
item GEVA, TAL - Boston Children'S Hospital
item GETZ, KELLY - Children'S Hospital - Boston, Massachusetts
item BOTTO, LORENZO - University Of Utah

Submitted to: American Journal of Medical Genetics
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 6/20/2014
Publication Date: 8/6/2014
Citation: Lin, A.E., Krikov, S., Riehle-Colarusso, T., Frias, J.L., Belmont, J., Anderka, M., Geva, T., Getz, K.D., Botto, L.D. 2014. Laterality defects in the national birth defects prevention study 1998-2007 birth prevalence and descriptive epidemiology. American Journal of Medical Genetics. 164(10):2581-2591.

Interpretive Summary: Heart problems, which occur in nearly 1 out of every 100 babies, are the leading cause of infant deaths due to birth defects. If we want to reduce the occurrence of heart defects we have to discover their causes. The first step is to accurately measure where heart defects occur and whether there are different kinds of defects in different locations around the country. We found that one type of very severe heart malformation – called laterality defects – happen more frequently in premature babies. We also found that the different types of laterality defects all occur together and that future studies should look for common causes among all of them. It is known that maternal nutritional abnormalities (like vitamin deficiencies and obesity) increase the risk of all birth defects. This work sets the stage for testing whether maternal nutrition affects the occurrence of this kind of heart defect.

Technical 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.