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Type: Journal article
Title: Associations between inherited thrombophilias, gestational age, and cerebral palsy
Author: Gibson, C.
MacLennan, A.
Hague, W.
Haan, E.
Priest, K.
Chan, A.
Dekker, G.
Citation: American Journal of Obstetrics and Gynecology, 2005; 193(4):1437.e1-1437.e12
Publisher: Mosby Inc
Issue Date: 2005
ISSN: 0002-9378
Statement of
Catherine S. Gibson, Alastair H. MacLennan, William M. Hague, Eric A. Haan, Kevin Priest, Annabelle Chan, Gustaaf A. Dekker, and the South Australian Cerebral Palsy Research Group
Abstract: Objective: This study was undertaken to investigate associations between inherited thrombophilic polymorphisms and cerebral palsy (CP) in a large case-control study. Study design: This is a population-based case-control study. Genomic DNA from newborn screening cards of 443 white CP cases and 883 white controls was tested for factor V Leiden (FVL, G1691A), prothrombin gene mutation (PGM, G20210A), and methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C. Results: MTHFR C677T was associated with an increased risk of developing any CP (32-36 weeks' gestation, homozygous odds ratio [OR] 2.55, 95% CI 1.12-5.74; heterozygous OR 1.91, 95% CI 1.01-3.66). MTHFR C677T was also associated with diplegia at both less than 32 weeks' gestation (homozygous OR 2.76, 95% CI 1.21-6.12) and all gestations (heterozygous OR 1.58 95%, CI 1.02-2.45). For children less than 32 weeks, FVL homozygosity may be associated with an increase in the risk of developing quadriplegia (OR 9.12, 95% CI 0.86-53.71). MTHFR A1298C (heterozygous) was associated with a reduced risk of diplegia developing at 32 to 36 weeks' gestation (OR 0.16, 95% CI 0.02-0.70). There were no associations between any type of CP and thrombophilia for children born 37 weeks or greater. Heterozygous PGM and homozygous MTHFR C677T combined were associated with quadriplegia at all gestational ages (OR 5.33, 95% CI 1.06-23.25). Conclusion: MTHFR C677T approximately doubles the risk of CP in preterm infants. A combination of homozygous MTHFR C677T and heterozygous PGM increases the risk of quadriplegia 5-fold at all gestational ages.
Keywords: Cerebral palsy
Inherited thrombophilias
Gestational age
Description: © 2005 Mosby, Inc.
DOI: 10.1016/j.ajog.2005.02.107
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Appears in Collections:Aurora harvest 6
Cerebral Palsy Research Group publications
Obstetrics and Gynaecology publications

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