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Identification of causal factors that influence fetal growth and anthropometry at birth is of great importance as they provide information about increased risk of disease throughout life. The association between maternal genetic polymorphism MTHFR(677)C>T and anthropometry at birth has been widely studied because of its key role in the one-carbon cycle. MTHFR(677) CT and TT genotypes have been associated with a greater risk of low birth weight, especially in case of deficient intake of folic acid during pregnancy. This study aimed to analyze the association between the maternal MTHFR(677)C>T genetic polymorphism and anthropometry at birth in a population with adequate folate consumption. We included 694 mother–newborn pairs from a prospective population-based birth cohort in Spain, in the Genetics, Early life enviroNmental Exposures and Infant Development in Andalusia (GENEIDA) project. Women were genotyped for MTHFR(677)C>T SNP by Q-PCR using TaqMan© probes. Relevant maternal and newborn information was obtained from structured questionnaires and medical records. Results showed that maternal MTHFR(677)C>T genotype was associated with newborn anthropometry. Genotypes CT or CT/TT showed statistically significant associations with increased or decreased risk of large-for-gestational-age (LGA) or small-for-gestational-age (SGA) based on weight and height, depending on the newborn’s sex, as well as with SGA in premature neonates. The relationships between this maternal genotype and anthropometry at birth remained despite an adequate maternal folate intake.

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Proper nutrition during pregnancy is pivotal to maintain good health for the child and the mother. This study evaluates the reproducibility and validity of a food frequency questionnaire (FFQ) designed to assess nutrient intake during pregnancy in the GENEIDA (Genetics, Early life Environmental Exposures and Infant Development in Andalusia) prospective birth cohort study. In addition, the nutrient intake was estimated and then compared with European guidelines and other studies. Diet information was collected from 690 pregnant women using a FFQ administered at two periods of pregnancy (used for the reproducibility study) and 24-h dietary recall (for the validity study). Statistical approaches included Spearman’s correlation coefficient and percentage agreement, classifying women into the same or adjacent quintiles to assess reproducibility, and limits of agreement (LoA) to evaluate validity. In the study of reproducibility, significant correlations for nutrients adjusted for total energy had an average of 0.417. Moreover, the percentage of subjects classified in the same quintile for nutrient intakes were above 66%. In the validation study, the significant correlation for nutrients adjusted for total energy had an average of 0.272. Nevertheless, the percentage of results in the LoA was above 94%. Our results were similar to other studies suggesting that the FFQ used is a valid tool of collect dietary intakes for South-East Spanish pregnant women.