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American Journal of Epidemiology Advance Access originally published online on May 4, 2009
American Journal of Epidemiology 2009 170(1):46-52; doi:10.1093/aje/kwp087
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American Journal of Epidemiology © The Author 2009. Published by the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org.

ORIGINAL CONTRIBUTIONS

Familial Recurrence of Midline Birth Defects—A Nationwide Danish Cohort Study

Nina Øyen, Heather A. Boyd, Gry Poulsen, Jan Wohlfahrt and Mads Melbye

Correspondence to Dr. Nina Øyen, Department of Epidemiology Research, Statens Serum Institut, Artillerivej 5, DK-2300 Copenhagen S, Denmark (e-mail: noy{at}ssi.dk).

Received for publication October 15, 2008. Accepted for publication March 17, 2009.

If birth defects resulting from fusion failure in the midline have a common etiology, as previously hypothesized, persons with a family history of 1 type of midline defect should have an increased risk of dissimilar midline defects. The authors examined this hypothesis by linking information from the National Patient Register, the Causes of Death Register, and the Danish Family Relations Database for all Danish residents registered in the Civil Registration System during 1977–2005. Linkage yielded a cohort of 1.7 million persons with 1 or more relatives, including 9,063 persons with 1 or more midline defects. The authors investigated familial clustering of midline defects by estimating relative risks of similar and dissimilar midline defects according to family history of midline defects. Given a history of similar defects in first-degree relatives, relative risks for neural tube defects, conotruncal defects, oral facial clefts, anal/rectal defects, and diaphragmatic defects were 8.2 (95% confidence interval (CI): 3.1, 21.7), 7.7 (95% CI: 4.3, 13.8), 13.2 (95% CI: 10.8, 16.2), 10.3 (95% CI: 2.6, 41.1), and 11.2 (95% CI: 1.6, 79.7), respectively. However, given a dissimilar defect in a family member, the relative risk for any midline defect was null. Thus, similar defects but not dissimilar defects clustered in families, providing no evidence of a shared etiology for dissimilar midline defects.

cleft lip; cleft palate; cohort studies; congenital abnormalities; gastroschisis; heart defects, congenital; neural tube defects; recurrence

Abbreviations: CI, confidence interval; ICD-8, International Classification of Diseases, Eighth Revision; ICD-10, International Classification of Diseases, Tenth Revision; RR, relative risk


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