Mallia Theresa, Grech Alexia, Hili Abigail, Calleja-Agius Jean, Pace Nikolai P
Department of Anatomy, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Department of Anatomy, Faculty of Medicine and Surgery, University of Malta, Msida, Malta -
Minerva Ginecol. 2017 Dec;69(6):631-643. doi: 10.23736/S0026-4784.17.04050-3. Epub 2017 Mar 21.
Birth weight depends on the elaborate interaction between maternal and fetal genotypes, placental function, maternal nutrition and lifestyle and their effect on epigenetic regulators of gene activity. The maternal environment in which the fetus develops is a critical factor in determining birth weight. This review provides an overview of the effect of several genetic variants leading to intrauterine growth restriction and low birth weight. Irrespective of the exact cause of genetic variations of fetal genes, intrauterine growth restriction is most likely due to alteration in the growth hormone and insulin like growth factor axis with distinct changes in the growth factors and their interaction with corresponding receptors. Interactions also occur between the fetal genotype and the intrauterine environment, influencing expression certain genes required for fetal growth. Genomic imprinting is an important mechanism whereby the restraint of fetal growth could be determined through the maternal line. Furthermore, maternal cigarette smoking results in genetic variations in two specific genes, which interact synergistically, resulting in low birth weight. Confined placental mosaicism can also lead to clinically compelling intrauterine growth restriction or even intrauterine fetal death.
出生体重取决于母体和胎儿基因型、胎盘功能、母体营养与生活方式之间复杂的相互作用，以及这些因素对基因活性表观遗传调节因子的影响。胎儿发育所处的母体环境是决定出生体重的关键因素。本综述概述了几种导致子宫内生长受限和低出生体重的基因变异的影响。无论胎儿基因变异的确切原因是什么，子宫内生长受限很可能是由于生长激素和胰岛素样生长因子轴的改变，生长因子及其与相应受体的相互作用发生了明显变化。胎儿基因型与子宫内环境之间也会发生相互作用，影响胎儿生长所需某些基因的表达。基因组印记是一种重要机制，通过母系可以确定对胎儿生长的限制。此外，母亲吸烟会导致两个特定基因发生基因变异，这两个基因协同作用，导致低出生体重。局限性胎盘嵌合体也可导致临床上明显的子宫内生长受限，甚至导致胎儿宫内死亡。
