Document Detail

Three generations of matrilineal excess of birth defects in Irish families with neural tube defects.
MedLine Citation:
PMID:  21057889     Owner:  NLM     Status:  In-Data-Review    
BACKGROUND: Neural tube defects (NTDs) and birth defects overall are more likely to occur among maternal compared to paternal relatives in two generations (uncles/aunts and first cousins) of Irish families where an individual has been born with an NTD.
AIMS: The aim of this study was to determine if the matrilineal excess persisted into the third generation.
METHODS: First cousins were interviewed about their pregnancy outcomes and their offsprings' health.
RESULTS: Maternal first cousins once removed (FCOR) were more likely to have birth defects than paternal FCOR: 6.7 versus 3.5% (adjusted odds ratio 1.49, 95% CI 0.57, 3.89). No NTDs occurred. Folic acid supplementation significantly reduced the risk of birth defects (P = 0.04).
CONCLUSIONS: This study demonstrates an excess of birth defects among maternal relatives in three consecutive generations of NTD families, and supports the hypothesis that an underlying mechanism links distant maternal relatives in at least some NTD families.
J Byrne
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Publication Detail:
Type:  Journal Article     Date:  2010-11-06
Journal Detail:
Title:  Irish journal of medical science     Volume:  180     ISSN:  1863-4362     ISO Abbreviation:  Ir J Med Sci     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-01-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7806864     Medline TA:  Ir J Med Sci     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  69-72     Citation Subset:  IM    
Boyne Research Institute, Duke House, Duke Street, Drogheda, Ireland,
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