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Working towards a risk prediction model for neural tube defects
Journal article   Open access   Peer reviewed

Working towards a risk prediction model for neural tube defects

A.J Agopian, Philip J Lupo, Sarah C Tinker, Mark A Canfield, Laura E Mitchell and National Birth Defects Prevention Study
Birth defects research. A Clinical and molecular teratology, Vol.94(3), pp.141-146
03/2012
DOI: 10.1002/bdra.22883
PMCID: PMC4569004
PMID: 22253139
url
https://doi.org/10.1002/bdra.22883View
Published (Version of record) Open Access

Abstract

BACKGROUND Several risk factors have been consistently associated with neural tube defects (NTDs). However, the predictive ability of these risk factors in combination has not been evaluated. METHODS To assess the predictive ability of established risk factors for NTDs, we built predictive models using data from the National Birth Defects Prevention Study, which is a large, population-based study of nonsyndromic birth defects. Cases with spina bifida or anencephaly, or both (n = 1239), and controls (n = 8494) were randomly divided into separate training (75% of cases and controls) and validation (remaining 25%) samples. Multivariable logistic regression models were constructed with the training samples. The predictive ability of these models was evaluated in the validation samples by assessing the area under the receiver operator characteristic curves. An ordinal predictive risk index was also constructed and evaluated. In addition, the ability of classification and regression tree (CART) analysis to identify subgroups of women at increased risk for NTDs in offspring was evaluated. RESULTSThe predictive ability of the multivariable models was poor (area under the receiver operating curve: 0.55 for spina bifida only, 0.59 for anencephaly only, and 0.56 for anencephaly and spina bifida combined). The predictive abilities of the ordinal risk indexes and CART models were also low. CONCLUSION Current established risk factors for NTDs are insufficient for population-level prediction of a women's risk for having affected offspring. Identification of genetic risk factors and novel nongenetic risk factors will be critical to establishing models, with good predictive ability, for NTDs.
anencephaly congenital abnormalities neural tube prediction risk score spina bifida

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