Hallman Mikko
Clinical Institutes of Pediatrics and Obstetrics & Gynecology, Oulu University Hospital, Oulu, Finland.
J Matern Fetal Neonatal Med. 2012 Apr;25 Suppl 1:21-4. doi: 10.3109/14767058.2012.667600.
It has been proposed that during human evolution, development of obligate bipedalism, narrow birth canal cross-sectional area and the large brain have forced an adjustment in duration of pregnancy (scaling of gestational age; Plunkett 2011). Children compared to other mammals are born with proportionally small brains (compared to adult brains), suggesting shortening of pregnancy duration during recent evolution. Prevalence of both obstructed delivery and premature birth is still exceptionally high. In near term infants, functional maturity and viability is high, and gene variants predisposing to respiratory distress syndrome (RDS) are rare. Advanced antenatal and neonatal treatment practices during the new era of medicine allowed survival of also very preterm infants (gestation <32 weeks). Genetic factors may play a major role in predisposing these infants to common pulmonary (bronchopulmonary dysplasia [BPD]; RDS) and intracerebral (intraventricular hemorrhage [IVH], cerebral palsy [CP]) diseases. Fetal genes also influence the susceptibility to preterm labor and premature birth. Specific genes associating with diseases in preterm infants may also contribute to the susceptibility to preterm birth. Understanding and applying the knowledge of genetic interactions in normal and abnormal perinatal-neonatal development requires large, well-structured population cohorts, studies involving the whole genome and international interdisciplinary collaboration.
有人提出，在人类进化过程中， obligate双足行走的发展、狭窄的产道横截面积和大脑的增大迫使妊娠期持续时间进行了调整（胎龄缩放；普伦基特，2011年）。与其他哺乳动物相比，人类儿童出生时大脑相对较小（与成人大脑相比），这表明在最近的进化过程中妊娠期持续时间缩短。难产和早产的发生率仍然异常高。在接近足月的婴儿中，功能成熟度和生存能力较高，而易患呼吸窘迫综合征（RDS）的基因变异很少见。在医学新时代，先进的产前和新生儿治疗方法使极早产儿（孕周<32周）也能存活。遗传因素可能在使这些婴儿易患常见肺部疾病（支气管肺发育不良[BPD]；RDS）和脑内疾病（脑室内出血[IVH]、脑瘫[CP]）方面起主要作用。胎儿基因也会影响早产和分娩的易感性。与早产儿疾病相关的特定基因也可能导致早产的易感性。要理解和应用正常和异常围产期 - 新生儿发育中基因相互作用的知识，需要大规模、结构良好的人群队列、涉及全基因组的研究以及国际跨学科合作。
