Abstract
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.
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Acknowledgments
Partial support for this study was provided by the Joseph E. and Marjorie B. Jones Foundation and the Friends of the Boyne Research Institute. I am grateful to the families who participated in this study, and to Susan Carolan, Dorothy Collins, Yvonne Byrne, Suzanne Markey, Mark Harmon, David Carroll, Rebecca Lawler and Sharon McGinty for expert technical assistance.
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Byrne, J. Three generations of matrilineal excess of birth defects in Irish families with neural tube defects. Ir J Med Sci 180, 69–72 (2011). https://doi.org/10.1007/s11845-010-0632-x
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DOI: https://doi.org/10.1007/s11845-010-0632-x