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Birth defects among maternal first cousins in Irish families with a neural tube defect

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Abstract

Background

Maternal first cousins of an individual with a neural tube defect (NTD) are at increased risk for an NTD. It is not known if they are also at risk for other serious birth defects.

Methods

We carried out an interview study of uncles and aunts and first cousins in Irish NTD families covering their pregnancy histories and the health of family members.

Results

Maternal first cousins were more likely than paternal first cousins to have a birth defect (9.4% vs. 5.5%, p = 0.02; adjusted odds ratio: 1.72, 95% confidence interval: 1.04, 2.84).

Conclusions

This study shows that two generations of distant relatives (uncles/aunts and first cousins) in NTD families have similar maternal excesses of NTDs and birth defects overall. Inheritance mechanisms favouring matrilineal transmission, currently unknown, may contribute to birth defect occurrence in these families.

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Acknowledgments

The author expresses her sincere appreciation to the families which participated in this study, to Susan Carolan, Dorothy Collins, Rose Ryan, Clodagh Byrne, Suzanne Markey, Mark Harmon, David Carroll, for expert technical assistance data, and especially to Yvonne Byrne, interviewer for this study; and to Sonia Stoszek and Dilys Parry for their careful reading of the manuscript. I acknowledge with gratitude grants from the Drogheda and District Charity Chest and from the Joseph E. and Marjorie B. Jones Foundation in partial support for this study.

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Authors and Affiliations

  1. Boyne Research Institute, Duke House, Duke Street, Drogheda, Ireland

    Julianne Byrne

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  1. Julianne Byrne
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Correspondence to Julianne Byrne.

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Byrne, J. Birth defects among maternal first cousins in Irish families with a neural tube defect. Ir J Med Sci 179, 375–380 (2010). https://doi.org/10.1007/s11845-009-0381-x

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  • DOI: https://doi.org/10.1007/s11845-009-0381-x

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