Maternal phenylketonuria syndrome in cousins caused by mild,unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation

Intrauterine growth retardation, microcephaly, and developmental delay in two first cousins lead to the recognition of phenylketonuria (PKU) in their mothers, 24- and 23 year-old sisters with blood phenylalanine concentrations of approx. 1.2 mmol/l who had never been treated and had no overt mental retardation. Both mothers were shown to be homozygous for a point mutation leading to an Arg-to-Gln substitution at codon 261 of the phenylalanine hydroxylase gene, a mutation which has been recently identified and tentatively associated with a mild variant of PKU. Our observation suggests that homozygosity for the Arg-261-Gln mutation can indeed result in mild PKU with little or perhaps no mental retardation, but also indicates that in such women, who may go unrecognized if not screened for, blood phenylalanine is elevated enough to cause the maternal PKU syndrome in their offspring.     

Maternal iron intake during pregnancy and the risk of small for gestational age

Studies of iron and its association with the risk of small for gestational age (SGA) show inconsistent results. Consuming iron supplements during pregnancy is controversial because of possible risks. This study assessed the association between iron intake and the risk of having an SGA newborn and whether iron intake is associated with gestational diabetes. A case–control study of 518 pairs of Spanish women who were pregnant and attending five hospitals was conducted. Groups were matched 1:1 for age (±2 years) and hospital. Cases were women with an SGA newborn at delivery. Controls were women with normal‐sized newborns at delivery. Data were gathered on demographic characteristics, socio‐economic status, adverse habits (like smoking), and diet. A 137‐item food frequency questionnaire was completed. Iron intakes were categorized in quintiles (Q1–Q5). Crude odds ratios (ORs) and adjusted ORs (aORs) with 95% confidence intervals (CIs) were estimated by conditional logistic regression. No significant relationship was found between dietary iron intake and SGA. A protective association was found for women receiving iron supplementation >40 mg/day and SGA versus women not taking supplements (aOR = 0.64, 95% CI [0.42, 0.99]). This association was identified in mothers both with (aOR = 0.57, 95% CI [0.40, 0.81]) and without (aOR = 0.64, 95% CI [0.64, 0.97]) anaemia. In women in the control group without anaemia, iron supplementation >40 mg/day was positively associated with gestational diabetes (aOR = 6.32, 95% CI [1.97, 20.23]). Iron supplementation in pregnancy may prevent SGA independently of existing anaemia but may also increase the risk of gestational diabetes.     

Diet quality during pregnancy and its association with social factors: 3D Cohort Study (Design,Develop, Discover)

Good diet quality during pregnancy provides adequate nutrition to support both the mothers and the fetus. The objective of this study is to describe the distribution of diet quality during pregnancy and to study the association between social factors and diet quality during pregnancy in a Canadian population. This study was based on 1535 pregnant women who provided dietary information in the 3D Cohort Study in Quebec, Canada. A 3‐day food record was used to collect dietary intake in the second trimester of pregnancy. A Canadian adaption of the Healthy Eating Index (HEI‐C) 2010 was used to quantify diet quality. Univariate and multiple linear regression models were used to calculate unadjusted and adjusted effect estimates and confidence intervals for the association between social factors and HEI‐C. The mean HEI‐C 2010 score in this study was 62.9 (SD: 11.2). Only 4.5% and 8.3% of the pregnant women consumed the recommended amounts of whole grains and ‘greens and beans’, respectively. Diet quality was lower in some subgroups of pregnant women. After multivariable adjustment, lower diet quality was observed in participants who were less educated, younger, overweight or obese before pregnancy, or parous. There was an interaction between ethnicity and immigration status on diet quality in pregnancy. These findings could be useful for health practitioners and policymakers in developing strategies to improve the diet quality of pregnant women.     

High cholesterol dietary intake during pregnancy is associated with large for gestational age in a sample of low‐income women of Rio de Janeiro,Brazil

The association between the quality of maternal dietary fat intake during pregnancy and the infant's birthweight (BW) remains controversial. Our goal was to investigate the association between maternal dietary fat intake during pregnancy and the rate of large for gestational age (LGA) newborns. This study employed a cross‐sectional analysis of 297 pairs of mothers/children attending a public maternity at Rio de Janeiro, Brazil. BW for gestational age according to the Intergrowth 21st was defined as follows: adequate for gestational age (AGA ≤ 90th percentile) and LGA (>90th percentile). The statistical analysis was a Poisson regression with robust estimations of the standard errors. Maternal dietary fat intake variables comprised lipids (% total energy); saturated (mg/1000 kcal), monounsaturated (mg/1000 kcal) and polyunsaturated (mg/1000 kcal) fats; and cholesterol (mg/1000 kcal), all of which were obtained with a Food Frequency Questionnaire. The mean BW was 3338 g (SD = 446.9), and the rate of LGA newborns was 13.1%. The mean maternal total energy intake was 2880 kcal (SD = 1074), cholesterol was 154.3 mg/1000 kcal (SD = 68.1) and monounsaturated fat was 6.9 mg/1000 kcal (SD = 2). Mothers of LGA newborns reported higher cholesterol dietary intake (195.8 vs. 148 mg/1000 kcal; P < 0.001), pre‐pregnancy body mass index (25.1 vs. 23.5 kg/m²; P = 0.026) when compared with mothers of AGA newborns. Women with cholesterol intake within the fourth quartile were 2.48 (95% confidence interval: 1.31–4.66) times more likely to have an LGA infant compared with those in the 1–3 quartiles. Dietary intake of cholesterol during pregnancy influences LGA even after adjusting for other confounders.